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
PLOD1	5351	broad.mit.edu	37	1	12012751	12012751	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:12012751C>G	uc001atm.2	+	5	629	c.538C>G	c.(538-540)CAG>GAG	p.Q180E	PLOD1_uc010obb.1_Missense_Mutation_p.Q227E	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	180					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGACAGCGATCAGCTGTTTTA	0.617		NA											9	69					0	0	0	0
GRIK3	2899	broad.mit.edu	37	1	37324810	37324810	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:37324810C>T	uc001caz.2	-	7	1138	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	GRIK3_uc001cba.1_Missense_Mutation_p.V335M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	335	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGTAGCACACGGACACGATA	0.622		NA											11	112					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66102651	66102651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:66102651C>T	uc001dci.2	+	20	3653	c.3451C>T	c.(3451-3453)CAG>TAG	p.Q1151*	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1151	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTTCTACTCAGACTCATAA	0.338		NA											5	91					0	0	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778658	111778658	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:111778658C>T	uc001eam.2	+	7	689	c.618C>T	c.(616-618)TTC>TTT	p.F206F	CHI3L2_uc001ean.2_Silent_p.F196F|CHI3L2_uc001eao.2_Silent_p.F127F|CHI3L2_uc009wga.2_Silent_p.F127F	NM_004000	NP_003991	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	206					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ATCTGGATTTCATCAACCTCC	0.473		NA											49	269					0	0	0	0
ZNF697	90874	broad.mit.edu	37	1	120168657	120168657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:120168657C>G	uc001ehy.1	-	2	181	c.67G>C	c.(67-69)GAT>CAT	p.D23H		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCCTCAAAATCAGAACCCATC	0.498		NA											23	209					0	0	0	0
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:153362715T>C	uc001fbs.2	-	3	201	c.146A>G	c.(145-147)AAG>AGG	p.K49R		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507		NA											3	151					0	0	0	0
MTX1	4580	broad.mit.edu	37	1	155178627	155178627	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:155178627G>A	uc001fjb.2	+	1	138	c.32G>A	c.(31-33)CGC>CAC	p.R11H	RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjc.2_Missense_Mutation_p.R11H	NM_002455	NP_002446	Q13505	MTX1_HUMAN	metaxin 1 isoform 1	11					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			skin(1)	1	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCAGTCCCCGCTCGGGGACG	0.647		NA											3	20					0	0	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254169	161254169	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:161254169G>A	uc001gad.2	+	3	353	c.105G>A	c.(103-105)GAG>GAA	p.E35E		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35											0	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGAGGAGGAGATTGACATTG	0.488		NA											9	93					0	0	0	0
CACNA1S	779	broad.mit.edu	37	1	201047194	201047194	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:201047194C>T	uc001gvv.2	-	11	1659	c.1432G>A	c.(1432-1434)GAG>AAG	p.E478K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	478	Helical; Name=S2 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCAGCATCTCAGTGGTGAAG	0.567		NA											22	100					0	0	0	0
C1orf107	27042	broad.mit.edu	37	1	210012455	210012455	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:210012455G>A	uc001hhr.1	+	7	1340	c.1264G>A	c.(1264-1266)GAT>AAT	p.D422N	C1orf107_uc009xcu.1_Missense_Mutation_p.D137N	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	422					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		GGGCAATATTGATGACCACTT	0.428		NA											11	87					0	0	0	0
CAPN2	824	broad.mit.edu	37	1	223957578	223957578	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:223957578C>G	uc001hob.3	+	17	2015	c.1791C>G	c.(1789-1791)TTC>TTG	p.F597L	CAPN2_uc010puy.1_Missense_Mutation_p.F519L|CAPN2_uc001hoc.2_Missense_Mutation_p.F178L	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	597	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		TGAAGGAGTTCTACATTCTCT	0.478		NA											2	5					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228433261	228433261	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:228433261C>G	uc009xez.1	+	12	3673	c.3629C>G	c.(3628-3630)TCA>TGA	p.S1210*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.S1210*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1210	Poly-Ser.|Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCTCCAGCTCAAAAGTACGC	0.627		NA											16	102					0	0	0	0
TARBP1	6894	broad.mit.edu	37	1	234529206	234529206	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:234529206C>A	uc001hwd.2	-	28	4462	c.4462G>T	c.(4462-4464)GGG>TGG	p.G1488W		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1488					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTGAAGCCCCAAATACCTCA	0.498		NA											14	74					4.37e-10	4.89e-10	1	0
RGS7	6000	broad.mit.edu	37	1	241261998	241261998	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:241261998C>A	uc001hyv.2	-	3	473	c.143G>T	c.(142-144)AGC>ATC	p.S48I	RGS7_uc010pyh.1_Missense_Mutation_p.S22I|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.S48I|RGS7_uc009xgn.1_Missense_Mutation_p.S48I|RGS7_uc001hyw.2_Missense_Mutation_p.S48I	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	48	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGAAAGAAAGCTTTTGACCGT	0.363		NA											10	51					1.09e-07	1.19e-07	1	0
KLF6	1316	broad.mit.edu	37	10	3823969	3823969	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:3823969C>G	uc001iha.2	-	2	807	c.540G>C	c.(538-540)TCG>TCC	p.S180S	KLF6_uc010qaj.1_Silent_p.S180S|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Silent_p.S180S|KLF6_uc001ihb.2_Silent_p.S180S	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	180			S -> L (found in gastric cancer samples; somatic mutation).		B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		CTGGCTTCCCCGAAGTCCCGC	0.627		NA									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	79					0	0	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940261	70940261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:70940261C>T	uc001jpe.1	+	1	269	c.214C>T	c.(214-216)CAG>TAG	p.Q72*	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	72					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						TGTGAAACCTCAGGGCCCCAG	0.637		NA											24	108					0	0	0	0
MYST4	23522	broad.mit.edu	37	10	76788729	76788729	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:76788729G>C	uc001jwn.1	+	18	4640	c.4147G>C	c.(4147-4149)GAT>CAT	p.D1383H	MYST4_uc001jwo.1_Missense_Mutation_p.D1091H|MYST4_uc001jwp.1_Missense_Mutation_p.D1200H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1383					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					aaaagaTCCAGATGGTGCTAA	0.249		NA	T	CREBBP	AML								7	46					0	0	0	0
WDR11	55717	broad.mit.edu	37	10	122619653	122619653	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:122619653C>T	uc010qtf.1	+	4	623	c.385C>T	c.(385-387)CGC>TGC	p.R129C	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	129	WD 2.					integral to membrane					0						AGATGCTTCCCGCGATTTACT	0.448		NA											26	89					0	0	0	0
DPYSL4	10570	broad.mit.edu	37	10	134008424	134008424	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:134008424C>T	uc009ybb.2	+	4	543	c.389C>T	c.(388-390)GCG>GTG	p.A130V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	130					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGGACAGCGCGGCCTGCTGC	0.662		NA											13	81					0	0	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249416	3249416	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:3249416C>T	uc001lxq.3	-	2	921	c.611G>A	c.(610-612)CGA>CAA	p.R204Q		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	204	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGGGCCTCGCTCCACCCG	0.682		NA											3	8					0	0	0	0
IPO7	10527	broad.mit.edu	37	11	9456494	9456494	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:9456494C>T	uc001mho.2	+	19	2230	c.2088C>T	c.(2086-2088)CTC>CTT	p.L696L		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	696					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGCCCCTCCTTCATAATT	0.313		NA											9	81					0	0	0	0
TP53I11	9537	broad.mit.edu	37	11	44956498	44956498	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:44956498G>T	uc001myi.2	-	10	1112	c.507C>A	c.(505-507)CTC>CTA	p.L169L	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Silent_p.L169L|TP53I11_uc001myk.2_Silent_p.L169L|TP53I11_uc001myl.2_Silent_p.L169L|TP53I11_uc001mym.2_Silent_p.L116L	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	169	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						CGACAAAAAGGAGGCGGCTGA	0.617		NA											19	137					7.93e-12	8.94e-12	1	0
ZBTB3	79842	broad.mit.edu	37	11	62520951	62520951	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:62520951A>T	uc001nuz.2	-	2	458	c.336T>A	c.(334-336)GAT>GAA	p.D112E		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	112	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						TACACACCAGATCCCTCTTGT	0.547		NA											16	71					0	0	0	0
CDCA5	113130	broad.mit.edu	37	11	64846603	64846603	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:64846603C>G	uc001ocp.2	-	6	900	c.735G>C	c.(733-735)GAG>GAC	p.E245D		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	245					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0						GATCAAACTGCTCAGCAGCTT	0.552		NA											4	34					0	0	0	0
RSF1	51773	broad.mit.edu	37	11	77412091	77412091	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:77412091C>A	uc001oyn.2	-	6	2303	c.2183G>T	c.(2182-2184)AGG>ATG	p.R728M	RSF1_uc001oym.2_Missense_Mutation_p.R476M	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	728					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTTCTGCCTTTCAGAGGT	0.398		NA											27	157					7.08e-08	7.78e-08	1	0
USP28	57646	broad.mit.edu	37	11	113670017	113670017	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:113670017C>A	uc001poh.2	-	25	3212	c.3179G>T	c.(3178-3180)CGA>CTA	p.R1060L	USP28_uc001pog.2_Missense_Mutation_p.R736L|USP28_uc010rwy.1_Missense_Mutation_p.R903L|USP28_uc001poi.2_Missense_Mutation_p.R383L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	1060					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGCTGCAAATCGGCTACATAG	0.483		NA											27	137					7.38e-10	8.24e-10	1	0
RIMKLB	57494	broad.mit.edu	37	12	8926332	8926332	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:8926332C>G	uc001quu.2	+	6	1364	c.1113C>G	c.(1111-1113)TTC>TTG	p.F371L	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.F371L|RIMKLB_uc010sgl.1_Missense_Mutation_p.F371L|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	371					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GGGGCCTGTTCAACATGAACC	0.483		NA											18	128					0	0	0	0
EPS8	2059	broad.mit.edu	37	12	15784565	15784565	+	Missense_Mutation	SNP	C	C	T	rs145919374		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:15784565C>T	uc009zif.2	-	18	1949	c.1855G>A	c.(1855-1857)GAT>AAT	p.D619N	EPS8_uc001rdb.2_Missense_Mutation_p.D619N|EPS8_uc009zig.2_Missense_Mutation_p.D359N|EPS8_uc010shv.1_Missense_Mutation_p.D359N	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	619	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGGGAGTATCAGCTGGTCTT	0.433		NA											7	67					0	0	0	0
STK38L	23012	broad.mit.edu	37	12	27461352	27461352	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:27461352C>G	uc001rhr.2	+	4	466	c.267C>G	c.(265-267)GAC>GAG	p.D89E	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	89					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					GCTTGGATGACTTTGAGTCTC	0.353		NA											33	133					0	0	0	0
BICD1	636	broad.mit.edu	37	12	32369283	32369283	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:32369283C>G	uc001rku.2	+	2	397	c.316C>G	c.(316-318)CTG>GTG	p.L106V	BICD1_uc001rkv.2_Missense_Mutation_p.L106V|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	106	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCTTACTATCTGGGGAAGAT	0.542		NA											14	69					0	0	0	0
ASB8	140461	broad.mit.edu	37	12	48545077	48545077	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:48545077C>G	uc001rrh.2	-	3	310	c.141G>C	c.(139-141)GTG>GTC	p.V47V	ASB8_uc010slr.1_Silent_p.V43V	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	47					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						GAGTGCAGTTCACATCTGCTC	0.522		NA											12	46					0	0	0	0
KRT74	121391	broad.mit.edu	37	12	52962128	52962128	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:52962128C>G	uc001sap.1	-	7	1228	c.1180G>C	c.(1180-1182)GAC>CAC	p.D394H		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	394	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGGCATTGTCTCCCCGCTGC	0.597		NA											10	62					0	0	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660580	57660580	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:57660580C>G	uc009zpm.1	-	17	2058	c.2023G>C	c.(2023-2025)GAG>CAG	p.E675Q	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.E370Q|R3HDM2_uc001snr.2_Missense_Mutation_p.E402Q|R3HDM2_uc001sns.2_Missense_Mutation_p.E675Q|R3HDM2_uc001snt.2_Missense_Mutation_p.E689Q|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	675	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2						TGGTACTGCTCAGAGCCAGGG	0.552		NA											8	42					0	0	0	0
GNPTAB	79158	broad.mit.edu	37	12	102153834	102153834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:102153834G>A	uc001tit.2	-	16	3402	c.3223C>T	c.(3223-3225)CAG>TAG	p.Q1075*		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1075					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.Q1075*(1)		ovary(1)|skin(1)	2						TAGGATTCCTGAGTTGGTGGA	0.368		NA											13	89					0	0	0	0
PDS5B	23047	broad.mit.edu	37	13	33344579	33344579	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:33344579C>G	uc010abf.2	+	32	4103	c.3945C>G	c.(3943-3945)AGC>AGG	p.S1315R	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1315					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAAGGAAGCAAAAAAAAAT	0.438		NA											4	34					0	0	0	0
FAM124A	220108	broad.mit.edu	37	13	51854623	51854623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:51854623G>C	uc001vfg.1	+	4	1003	c.872G>C	c.(871-873)AGA>ACA	p.R291T	FAM124A_uc001vff.1_Missense_Mutation_p.R327T	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	291										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AAACCTGGCAGAGTACATCAT	0.517		NA											8	46					0	0	0	0
C13orf34	79866	broad.mit.edu	37	13	73327930	73327930	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:73327930G>A	uc001viv.1	+	11	1704	c.1585G>A	c.(1585-1587)GAG>AAG	p.E529K	C13orf34_uc010aen.1_Missense_Mutation_p.E604K|C13orf34_uc010thr.1_Missense_Mutation_p.E459K|C13orf34_uc001viw.1_Missense_Mutation_p.E478K	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	529					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		ATGTGAAGTTGAGAGTAAATC	0.313		NA											6	70					0	0	0	0
ING1	3621	broad.mit.edu	37	13	111372242	111372242	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:111372242T>G	uc001vri.2	+	2	1664	c.1232T>G	c.(1231-1233)CTG>CGG	p.L411R	ING1_uc001vrf.2_Missense_Mutation_p.L224R|ING1_uc001vrg.2_Missense_Mutation_p.L199R|ING1_uc001vrh.2_Missense_Mutation_p.L268R	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	411					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACAAAGCCCTGGAGAAATCC	0.507		NA											8	26					0	0	0	0
ATP11A	23250	broad.mit.edu	37	13	113478732	113478732	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:113478732G>A	uc001vsi.3	+	10	953	c.865G>A	c.(865-867)GTG>ATG	p.V289M	ATP11A_uc001vsj.3_Missense_Mutation_p.V289M|ATP11A_uc001vsm.1_Missense_Mutation_p.V165M	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	289	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCGATCTGCCGTGGAAAAGTA	0.443		NA											13	85					0	0	0	0
MMP14	4323	broad.mit.edu	37	14	23313957	23313957	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:23313957C>T	uc001whc.2	+	8	1503	c.1269C>T	c.(1267-1269)CCC>CCT	p.P423P		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	423	Hemopexin-like 3.|Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCTGGATGCCCAATGGAAAGA	0.547		NA											18	137					0	0	0	0
DAAM1	23002	broad.mit.edu	37	14	59820601	59820601	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:59820601C>T	uc001xdz.1	+	20	2430	c.2305C>T	c.(2305-2307)CAC>TAC	p.H769Y	DAAM1_uc001xea.1_Missense_Mutation_p.H759Y|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	769	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAATTAATCACTATCAGCA	0.378		NA											3	25					0	0	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376489	75376489	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:75376489G>A	uc010tux.1	-	7	1555	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W	RPS6KL1_uc001xqx.1_Missense_Mutation_p.R95W|RPS6KL1_uc001xqw.2_Missense_Mutation_p.R312W|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	343	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTGAGCCCCCGAGGGGGCCCA	0.697		NA											7	36					0	0	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91389537	91389537	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:91389537C>G	uc001xys.2	-	6	837	c.622G>C	c.(622-624)GAA>CAA	p.E208Q	RPS6KA5_uc010twi.1_Missense_Mutation_p.E129Q|RPS6KA5_uc001xyt.2_Missense_Mutation_p.E208Q|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	208	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TATGCTCTTTCAGTCTTGAAC	0.353		NA											6	37					0	0	0	0
BEGAIN	57596	broad.mit.edu	37	14	101012923	101012923	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:101012923C>T	uc010txa.1	-	2	237	c.91G>A	c.(91-93)GAG>AAG	p.E31K	BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Missense_Mutation_p.E31K	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	31						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				GAGTCGAACTCGGTCTCGAGC	0.562		NA											9	51					0	0	0	0
DISP2	85455	broad.mit.edu	37	15	40661167	40661167	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:40661167G>A	uc001zlk.1	+	8	2943	c.2854G>A	c.(2854-2856)GAG>AAG	p.E952K		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	952					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TAGCCGTCTAGAGCTGTATAG	0.632		NA											19	103					0	0	0	0
SPINT1	6692	broad.mit.edu	37	15	41145359	41145359	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:41145359G>C	uc001zna.2	+	3	717	c.513G>C	c.(511-513)TTG>TTC	p.L171F	SPINT1_uc001znb.2_Missense_Mutation_p.L171F|SPINT1_uc001znc.2_Missense_Mutation_p.L171F|SPINT1_uc010ucs.1_Missense_Mutation_p.L171F	NM_181642	NP_857593	O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	171						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATAGACTTGAAGGTACAAC	0.557		NA											25	150					0	0	0	0
UBR1	197131	broad.mit.edu	37	15	43351984	43351984	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43351984C>G	uc001zqq.2	-	8	967	c.901G>C	c.(901-903)GAA>CAA	p.E301Q	UBR1_uc010udk.1_Missense_Mutation_p.E301Q	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	301					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTAATACTTCTACATGAAGT	0.353		NA											8	49					0	0	0	0
LCMT2	9836	broad.mit.edu	37	15	43622444	43622444	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43622444G>A	uc001zrg.2	-	1	448	c.244C>T	c.(244-246)CGC>TGC	p.R82C	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652		NA											5	48					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43814803	43814803	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43814803G>A	uc001zrt.2	+	4	1599	c.1132G>A	c.(1132-1134)GAG>AAG	p.E378K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	378	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCAAGCCTGAGAGGGTGAA	0.493		NA											4	29					0	0	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500096	48500096	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:48500096C>T	uc001zwn.3	+	2	396	c.180C>T	c.(178-180)ATC>ATT	p.I60I	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Silent_p.I60I|SLC12A1_uc010uex.1_Silent_p.I60I	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	60	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GACTCAGAATCAGCTTTAGGC	0.438		NA											9	62					0	0	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519205	50519205	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:50519205C>T	uc001zxw.2	+	7	1519	c.1287C>T	c.(1285-1287)ATC>ATT	p.I429I	SLC27A2_uc010bes.2_Silent_p.I376I|SLC27A2_uc001zxx.2_Silent_p.I194I	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	429	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTGCAAAATCACACAACTTA	0.358		NA											5	43					0	0	0	0
CPEB1	64506	broad.mit.edu	37	15	83215266	83215266	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:83215266C>G	uc002bit.2	-	11	1832	c.1695G>C	c.(1693-1695)CAG>CAC	p.Q565H	CPEB1_uc002biq.2_Missense_Mutation_p.Q425H|CPEB1_uc002bir.2_Missense_Mutation_p.Q430H|CPEB1_uc002bis.2_Missense_Mutation_p.Q425H|CPEB1_uc010uod.1_Missense_Mutation_p.Q274H|CPEB1_uc010uoe.1_Missense_Mutation_p.Q503H|CPEB1_uc002biu.2_Missense_Mutation_p.Q527H|CPEB1_uc010uof.1_Missense_Mutation_p.Q425H|CPEB1_uc002biv.2_Missense_Mutation_p.Q500H|CPEB1_uc002bip.2_Missense_Mutation_p.Q274H	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	505	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGGGGTCAATCTGAACCTGCA	0.483		NA											8	74					0	0	0	0
IQGAP1	8826	broad.mit.edu	37	15	90934036	90934036	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:90934036A>T	uc002bpl.1	+	2	187	c.86A>T	c.(85-87)GAG>GTG	p.E29V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	29					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTACTGCAGAGGAGATGGAT	0.423		NA											10	103					0	0	0	0
STUB1	10273	broad.mit.edu	37	16	731286	731286	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:731286C>T	uc002cit.2	+	2	705	c.294C>T	c.(292-294)TTC>TTT	p.F98F	STUB1_uc002ciu.2_Silent_p.F26F|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	98	TPR 3.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				AGGCGCACTTCTTCCTGGGGC	0.652		NA											3	27					0	0	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862205	11862205	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:11862205C>G	uc002dbk.2	-	11	1524	c.1326G>C	c.(1324-1326)TTG>TTC	p.L442F	ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.L442F|ZC3H7A_uc002dbm.1_Missense_Mutation_p.L352F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	442						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AAGCTTGTCTCAATTCATGGG	0.413		NA											38	181					0	0	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871316	20871316	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:20871316G>C	uc002dhz.2	-	3	948	c.807C>G	c.(805-807)CTC>CTG	p.L269L	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain	269	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)		AGGTGTCAAAGAGACTTGGCC	0.552		NA											7	39					0	0	0	0
USP31	57478	broad.mit.edu	37	16	23116891	23116891	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:23116891G>A	uc002dll.2	-	5	960	c.960C>T	c.(958-960)CTC>CTT	p.L320L		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	320					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CAGTGACATAGAGAGGCCTGT	0.418		NA											11	52					0	0	0	0
TNRC6A	27327	broad.mit.edu	37	16	24800705	24800705	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:24800705G>C	uc002dmm.2	+	6	856	c.742G>C	c.(742-744)GAG>CAG	p.E248Q	TNRC6A_uc010bxs.2_5'UTR|TNRC6A_uc010vcc.1_5'UTR|TNRC6A_uc002dmn.2_5'UTR|TNRC6A_uc002dmo.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	248	Ser-rich.				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)		CAGTGATCCGGAGTTGGCTTC	0.458		NA											10	122					0	0	0	0
CCDC135	84229	broad.mit.edu	37	16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	rs116219187	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:57741450G>A	uc002emi.2	+	7	1026	c.937G>A	c.(937-939)GAG>AAG	p.E313K	CCDC135_uc002emj.2_Missense_Mutation_p.E313K|CCDC135_uc002emk.2_Missense_Mutation_p.E248K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	313						cytoplasm				central_nervous_system(1)	1						GGGGAAGCGCGAGGTGCCTGA	0.587		NA											10	52					0	0	0	0
TMED6	146456	broad.mit.edu	37	16	69385485	69385485	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69385485G>T	uc002exc.1	-	1	205	c.172C>A	c.(172-174)CAA>AAA	p.Q58K		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	58	Lumenal (Potential).|GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						TGGGCAAATTGCCAAAAGCAT	0.483		NA											17	131					5.35e-07	5.8e-07	1	0
WWP2	11060	broad.mit.edu	37	16	69969816	69969816	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69969816C>T	uc002exu.1	+	19	1992	c.1903C>T	c.(1903-1905)CTC>TTC	p.L635F	WWP2_uc002exv.1_Missense_Mutation_p.L635F|WWP2_uc010vlm.1_Missense_Mutation_p.L519F|WWP2_uc010vln.1_Missense_Mutation_p.L253F|WWP2_uc002exw.1_Missense_Mutation_p.L196F	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	635	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CAAGCGGATGCTCAATAAGAG	0.547		NA											32	157					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72830136	72830136	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:72830136G>A	uc002fck.2	-	9	7118	c.6445C>T	c.(6445-6447)CGC>TGC	p.R2149C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R1235C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2149	Homeobox 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATCCTGGTGCGAGGCCTCTTG	0.547		NA											12	64					0	0	0	0
TSR1	55720	broad.mit.edu	37	17	2234280	2234280	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:2234280G>T	uc002fuj.2	-	9	2577	c.1620C>A	c.(1618-1620)ATC>ATA	p.I540I	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	540					ribosome assembly	nucleolus	protein binding			ovary(1)	1						CCTCTTTAAAGATGCTTTTCC	0.393		NA											7	66					2.01e-06	2.17e-06	1	0
CAMKK1	84254	broad.mit.edu	37	17	3783646	3783646	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:3783646C>T	uc002fwt.2	-	9	884	c.790G>A	c.(790-792)GAG>AAG	p.E264K	CAMKK1_uc002fwu.2_Missense_Mutation_p.E264K|CAMKK1_uc002fwv.2_Missense_Mutation_p.E302K	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	264	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCACAGTACTCGAGGCCCAGG	0.652		NA											7	38					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7576927	7576927	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7576927C>G	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.?(16)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(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)		TTGGGCAGTGCTAGGAAAGAG	0.493		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)			16	73					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7577099C>G	uc002gim.2	-	8	1033	c.839G>C	c.(838-840)AGA>ACA	p.R280T	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (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.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(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)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			3	28					0	0	0	0
NCOR1	9611	broad.mit.edu	37	17	16089965	16089965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:16089965C>T	uc002gpo.2	-	3	385	c.145G>A	c.(145-147)GAA>AAA	p.E49K	NCOR1_uc002gpn.2_Missense_Mutation_p.E49K|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.E49K|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.E49K|NCOR1_uc010cpa.1_Missense_Mutation_p.E49K|NCOR1_uc002gpu.2_Missense_Mutation_p.E49K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	49	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACTCACTTCAAGATGAGAG	0.408		NA											6	80					0	0	0	0
MKS1	54903	broad.mit.edu	37	17	56289744	56289744	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56289744C>G	uc002ivr.1	-	9	985	c.910G>C	c.(910-912)GAG>CAG	p.E304Q	MKS1_uc010wnq.1_Missense_Mutation_p.E101Q|MKS1_uc002ivs.1_Missense_Mutation_p.E304Q	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	304					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						CTCACCATCTCAAAGTCGGTG	0.502		NA											18	84					0	0	0	0
LPO	4025	broad.mit.edu	37	17	56345268	56345268	+	Silent	SNP	C	C	T	rs3744104		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56345268C>T	uc002ivt.2	+	13	2368	c.2052C>T	c.(2050-2052)TTC>TTT	p.F684F	LPO_uc010wns.1_Silent_p.F625F|LPO_uc010dcp.2_Silent_p.F601F|LPO_uc010dcq.2_Silent_p.F355F|LPO_uc010dcr.2_Silent_p.F247F	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	684					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GGGACCCATTCTGGGCCAACA	0.572		NA											18	104					0	0	0	0
ICAM2	3384	broad.mit.edu	37	17	62081150	62081150	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:62081150G>A	uc002jdu.3	-	3	735	c.503C>T	c.(502-504)CCG>CTG	p.P168L	C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.P168L|ICAM2_uc010ded.2_Missense_Mutation_p.P168L|ICAM2_uc002jdx.3_Missense_Mutation_p.P168L|ICAM2_uc002jdv.3_Missense_Mutation_p.P168L	NM_000873	NP_000864	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2 precursor	168	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			ovary(1)	1						GGCCTCCTGCGGAGCAGGGGC	0.627		NA											16	74					0	0	0	0
AXIN2	8313	broad.mit.edu	37	17	63537611	63537611	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:63537611C>A	uc002jfi.2	-	4	1310	c.1021G>T	c.(1021-1023)GTG>TTG	p.V341L	AXIN2_uc010den.1_Missense_Mutation_p.V341L|AXIN2_uc002jfh.2_Missense_Mutation_p.V341L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	341	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TTGGCCTTCACACTGCGATGC	0.473		NA							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				15	117					5.35e-07	5.8e-07	1	0
APOH	350	broad.mit.edu	37	17	64216816	64216816	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:64216816G>A	uc002jfn.3	-	5	519	c.460C>T	c.(460-462)CGT>TGT	p.R154C		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	154	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTATAAACACGAAGTGTTGCA	0.383		NA											14	96					0	0	0	0
NPTX1	4884	broad.mit.edu	37	17	78444754	78444754	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:78444754C>T	uc002jyp.1	-	5	1316	c.1158G>A	c.(1156-1158)CTG>CTA	p.L386L		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	386	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCCCGGGGGTCAGCTTGCGGT	0.592		NA											14	84					0	0	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890002	6890002	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr18:6890002C>G	uc010wzi.1	+	12	1359	c.1121C>G	c.(1120-1122)TCT>TGT	p.S374C	ARHGAP28_uc002knc.2_Missense_Mutation_p.S499C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S392C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S392C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S383C			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	374					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				AGCAAACACTCTGATTATGAA	0.398		NA											12	85					0	0	0	0
THEG	51298	broad.mit.edu	37	19	362264	362264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:362264G>A	uc002lol.2	-	8	1115	c.1076C>T	c.(1075-1077)TCT>TTT	p.S359F	THEG_uc002lom.2_Missense_Mutation_p.S335F	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	359					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCATAGAGGCGAGGGG	0.602		NA											24	152					0	0	0	0
HAUS8	93323	broad.mit.edu	37	19	17170416	17170416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:17170416G>A	uc002nfe.2	-	6	482	c.371C>T	c.(370-372)TCA>TTA	p.S124L	HAUS8_uc002nff.2_Missense_Mutation_p.S123L|HAUS8_uc002nfg.1_Missense_Mutation_p.S63L|HAUS8_uc002nfh.1_Missense_Mutation_p.S124L	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	124					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						AGGTTTCTTTGATATTGTTTT	0.428		NA											13	78					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22154039	22154039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:22154039G>C	uc002nqp.2	-	6	3562	c.3413C>G	c.(3412-3414)TCA>TGA	p.S1138*	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTGAAGACTGATAACCAGCT	0.388		NA											6	56					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	38959733	38959733	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:38959733C>G	uc002oit.2	+	26	3639	c.3509C>G	c.(3508-3510)TCT>TGT	p.S1170C	RYR1_uc002oiu.2_Missense_Mutation_p.S1170C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1170	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCTCATGTCTGACTCAGGC	0.468		NA											10	100					0	0	0	0
ZNF221	7638	broad.mit.edu	37	19	44470712	44470712	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:44470712T>A	uc002oxx.2	+	6	1386	c.1058T>A	c.(1057-1059)CTT>CAT	p.L353H	ZNF221_uc010ejb.1_Missense_Mutation_p.L353H|ZNF221_uc010xws.1_Missense_Mutation_p.L353H	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	353	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				AGATCAGCACTTAATAGTCAT	0.403		NA											18	121					0	0	0	0
SNRNP70	6625	broad.mit.edu	37	19	49610936	49610936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:49610936C>T	uc002pmk.2	+	9	1071	c.632C>T	c.(631-633)TCA>TTA	p.S211L	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.S211L|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	NM_003089	NP_003080	P08621	RU17_HUMAN	U1 small nuclear ribonucleoprotein 70 kDa	211					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						ATCCGGCATTCAGGCCGCGAT	0.657		NA											12	63					0	0	0	0
LILRB3	11025	broad.mit.edu	37	19	54724540	54724540	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:54724540G>A	uc002qef.1	-	6	1227	c.1116C>T	c.(1114-1116)TAC>TAT	p.Y372Y	LILRB3_uc002qee.1_Silent_p.Y372Y|LILRB3_uc002qeh.1_Silent_p.Y372Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.Y372Y|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Silent_p.Y372Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.Y372Y|LILRB3_uc002qep.1_Silent_p.Y372Y|LILRB3_uc002qeq.1_Silent_p.Y372Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.Y372Y|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	372	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.Y372Y(1)		skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TATGAGCTCCGTACATTGATC	0.567		NA											20	49					0	0	0	0
FAM179A	165186	broad.mit.edu	37	2	29240094	29240094	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:29240094G>A	uc010ezl.2	+	9	1470	c.1119G>A	c.(1117-1119)CGG>CGA	p.R373R	FAM179A_uc010ymm.1_Silent_p.R373R|FAM179A_uc002rmr.3_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	373							binding			ovary(3)|skin(1)	4						AGCTGCTTCGGAGGCTGGAGG	0.577		NA											14	76					0	0	0	0
SOCS5	9655	broad.mit.edu	37	2	46986940	46986940	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:46986940G>C	uc002rvf.2	+	2	1435	c.1271G>C	c.(1270-1272)AGA>ACA	p.R424T	SOCS5_uc010yoe.1_Missense_Mutation_p.R393T|SOCS5_uc002rvg.2_Missense_Mutation_p.R424T	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	424	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTACAACAGATCCCTGCAT	0.517		NA											16	94					0	0	0	0
PDCL3	79031	broad.mit.edu	37	2	101188255	101188255	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:101188255G>C	uc002tao.2	+	5	684	c.572G>C	c.(571-573)AGA>ACA	p.R191T		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	191					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						AACCTGACAAGAGATGGTAAG	0.502		NA											30	162					0	0	0	0
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:132021797C>G	uc002tsn.2	+	15	2821	c.2769C>G	c.(2767-2769)TTC>TTG	p.F923L	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.F523L|POTEE_uc002tsl.2_Missense_Mutation_p.F505L|POTEE_uc010fmy.1_Missense_Mutation_p.F387L	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	923	Actin-like.						ATP binding				0						CCCTGGACTTCGAGCAGGAGA	0.597		NA											17	383					0	0	0	0
GPR39	2863	broad.mit.edu	37	2	133174980	133174980	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:133174980C>T	uc002ttl.2	+	1	834	c.365C>T	c.(364-366)ACG>ATG	p.T122M		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	122	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						AGCTACGCTACGCTGCTGCAC	0.572		NA											17	61					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152383461	152383461	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:152383461C>A	uc010fnx.2	-	120	17004	c.16813G>T	c.(16813-16815)GCC>TCC	p.A5605S	NEB_uc002txr.2_Missense_Mutation_p.A2028S|NEB_uc002txt.3_Missense_Mutation_p.A110S	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5605	Nebulin 153.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463		NA											4	20					4.1e-09	4.55e-09	1	0
TTN	7273	broad.mit.edu	37	2	179529384	179529384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179529384C>A	uc010zfk.1	-	12	1185	c.637G>T	c.(637-639)GAA>TAA	p.E213*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATACCTTCATCAGGAAGG	0.378		NA											11	69					4.69e-08	5.17e-08	1	0
TTN	7273	broad.mit.edu	37	2	179611406	179611406	+	Missense_Mutation	SNP	C	C	G	rs147119153		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611406C>G	uc002unb.2	-	46	15945	c.15721G>C	c.(15721-15723)GAA>CAA	p.E5241Q	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	8760							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5241K(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGAAATTTCCAGTGAACAC	0.393		NA											10	155					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179611715	179611715	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611715C>T	uc002unb.2	-	46	15636	c.15412G>A	c.(15412-15414)GAA>AAA	p.E5138K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	1039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCCCTTTCTATTTTTGAT	0.443		NA											36	141					0	0	0	0
AOX1	316	broad.mit.edu	37	2	201485524	201485524	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:201485524G>C	uc002uvx.2	+	17	1957	c.1856G>C	c.(1855-1857)AGA>ACA	p.R619T	AOX1_uc010zhf.1_Missense_Mutation_p.R175T|AOX1_uc010fsu.2_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	619					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTAGTTCAAGAGCTCATGCT	0.423		NA											9	35					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:202131505C>T	uc002uxr.1	+	3	505	c.296C>T	c.(295-297)TCT>TTT	p.S99F	CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc002uxy.1_Missense_Mutation_p.S99F|CASP8_uc002uxx.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	99					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						GCTCAAATTTCTGCCTACAGG	0.493		NA								HNSCC(4;0.00038)			5	42					0	0	0	0
ARPC2	10109	broad.mit.edu	37	2	219082227	219082227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:219082227G>A	uc002vhd.2	+	2	146	c.34G>A	c.(34-36)GAG>AAG	p.E12K	ARPC2_uc002vhe.2_Missense_Mutation_p.E12K	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	12					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCGCATCATCGAGGAGACGCT	0.473		NA											6	36					0	0	0	0
NMUR1	10316	broad.mit.edu	37	2	232392867	232392867	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:232392867C>T	uc002vry.3	-	2	975	c.865G>A	c.(865-867)GAT>AAT	p.D289N		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	289	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCCCGATCGTGCTGCTGG	0.652		NA											11	74					0	0	0	0
ACSS1	84532	broad.mit.edu	37	20	24989982	24989982	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr20:24989982G>C	uc002wub.2	-	13	2692	c.1814C>G	c.(1813-1815)TCA>TGA	p.S605*	ACSS1_uc002wuc.2_Nonsense_Mutation_p.S603*|ACSS1_uc010gdc.2_Nonsense_Mutation_p.S400*|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Nonsense_Mutation_p.S522*	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	605					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCACATCTGAGTCACCCGC	0.502		NA											36	190					0	0	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862566	43862566	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr21:43862566C>G	uc002zbe.2	+	12	1527	c.1491C>G	c.(1489-1491)CTC>CTG	p.L497L	UBASH3A_uc002zbf.2_Silent_p.L459L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.L459L	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	497	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						ATCCAGAACTCAAACTGGAGA	0.428		NA											19	113					0	0	0	0
DGCR6L	85359	broad.mit.edu	37	22	20307265	20307265	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:20307265G>C	uc002zrx.2	-	2	265	c.168C>G	c.(166-168)CTC>CTG	p.L56L	DGCR6L_uc010gsb.2_RNA|DGCR6L_uc010gsc.2_Silent_p.L56L	NM_033257	NP_150282	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6 like	56						nucleus					0	Colorectal(54;0.0993)					CGGTGCCGTCGAGAAGCGCCA	0.652		NA											6	22					0	0	0	0
CSNK1E	1454	broad.mit.edu	37	22	38698935	38698935	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:38698935G>C	uc003avj.2	-	4	528	c.267C>G	c.(265-267)CTC>CTG	p.L89L	CSNK1E_uc003avk.2_Silent_p.L89L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.L89L|CSNK1E_uc003avo.2_Silent_p.L89L|CSNK1E_uc003avp.1_Silent_p.L89L|CSNK1E_uc003avq.1_Silent_p.L89L|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	89	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					ACAGGTCCTCGAGGCTAGGCC	0.622		NA											16	89					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41556666	41556666	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:41556666G>A	uc003azl.3	+	20	4006	c.3611G>A	c.(3610-3612)TGT>TAT	p.C1204Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1204					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGTGAGAAGTGTTTCAATGAG	0.468		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				19	85					0	0	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077267	45077267	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:45077267T>C	uc003cok.3	+	3	556	c.460T>C	c.(460-462)TAC>CAC	p.Y154H	CLEC3B_uc003col.2_Missense_Mutation_p.Y112H	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	154	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGCATCGCCTACAAGAACTG	0.667		NA											3	73					0	0	0	0
MST1R	4486	broad.mit.edu	37	3	49927421	49927421	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:49927421C>T	uc003cxy.3	-	19	4147	c.3883G>A	c.(3883-3885)GAC>AAC	p.D1295N	MST1R_uc011bdc.1_Missense_Mutation_p.D174N	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1295	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGTAAGGTCAAAAGGGTCA	0.532		NA											11	83					0	0	0	0
DNAH1	25981	broad.mit.edu	37	3	52394093	52394093	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:52394093G>A	uc011bef.1	+	27	4830	c.4569G>A	c.(4567-4569)CTG>CTA	p.L1523L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1523	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCACAGCTGAGGTGAGGAC	0.562		NA											20	93					0	0	0	0
CCDC66	285331	broad.mit.edu	37	3	56605280	56605280	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:56605280G>A	uc003dhz.2	+	7	973	c.886G>A	c.(886-888)GAA>AAA	p.E296K	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E262K|CCDC66_uc003dhx.2_RNA	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	296										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAAATCTGAAAGTGATAA	0.269		NA											15	89					0	0	0	0
ROBO2	6092	broad.mit.edu	37	3	77666886	77666886	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:77666886G>C	uc003dpy.3	+	22	4159	c.3516G>C	c.(3514-3516)TTG>TTC	p.L1172F	ROBO2_uc003dpz.2_Missense_Mutation_p.L1176F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L1176F|ROBO2_uc003dqa.2_Missense_Mutation_p.L299F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1172	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATGAGTTGACAAGAGCCT	0.433		NA											10	65					0	0	0	0
ROBO1	6091	broad.mit.edu	37	3	78656171	78656171	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:78656171G>A	uc003dqe.2	-	29	4664	c.4456C>T	c.(4456-4458)CCG>TCG	p.P1486S	ROBO1_uc003dqb.2_Missense_Mutation_p.P1447S|ROBO1_uc003dqc.2_Missense_Mutation_p.P1386S|ROBO1_uc003dqd.2_Missense_Mutation_p.P1441S|ROBO1_uc010hoh.2_Missense_Mutation_p.P678S|ROBO1_uc011bgl.1_Missense_Mutation_p.P1058S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1486	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAGGTGGCGGCACAGGAGGT	0.423		NA											4	75					0	0	0	0
DRD3	1814	broad.mit.edu	37	3	113850003	113850003	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:113850003C>A	uc003ebd.2	-	7	1391	c.968G>T	c.(967-969)CGG>CTG	p.R323L	DRD3_uc010hqn.1_Missense_Mutation_p.R323L|DRD3_uc003ebb.1_Missense_Mutation_p.R290L|DRD3_uc003ebc.1_Missense_Mutation_p.R323L	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	323	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTCTTCTCCCGAAGTGGCAC	0.403		NA											22	109					7.42e-09	8.22e-09	1	0
ACPP	55	broad.mit.edu	37	3	132047150	132047150	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:132047150C>A	uc010htp.2	+	2	250	c.160C>A	c.(160-162)CCC>ACC	p.P54T	ACPP_uc003eon.3_Missense_Mutation_p.P54T|ACPP_uc003eop.3_Missense_Mutation_p.P54T	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	54						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						TGACACCTTTCCCACTGACCC	0.443		NA											7	80					1.26e-09	1.41e-09	1	0
GPR149	344758	broad.mit.edu	37	3	154146734	154146734	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:154146734C>T	uc003faa.2	-	1	771	c.671G>A	c.(670-672)AGA>AAA	p.R224K		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	224	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGTGGAGTCTCGGCGGCTC	0.577		NA											10	84					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (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.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(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)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	53					0	0	0	0
GP5	2814	broad.mit.edu	37	3	194118459	194118459	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:194118459G>T	uc003ftv.1	-	2	584	c.553C>A	c.(553-555)CTG>ATG	p.L185M		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	185	Extracellular (Potential).|LRR 5.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCCTTGGGCAGGTGGGTCAGG	0.542		NA											19	83					9.77e-05	0.000103274	1	0
ZNF141	7700	broad.mit.edu	37	4	337651	337651	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:337651G>A	uc003gaa.2	+	3	262	c.84G>A	c.(82-84)TTG>TTA	p.L28L	ZNF141_uc003fzz.2_Silent_p.L28L|ZNF141_uc003gab.2_Silent_p.L28L	NM_003441	NP_003432	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0						AGCAGAATTTGTATAGAGATG	0.388		NA											4	145					0	0	0	0
WHSC2	7469	broad.mit.edu	37	4	1985396	1985396	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:1985396C>G	uc003gem.2	-	10	1602	c.1362G>C	c.(1360-1362)GAG>GAC	p.E454D	WHSC2_uc003gek.2_Missense_Mutation_p.E180D|WHSC2_uc003gel.2_Missense_Mutation_p.E368D|WHSC2_uc003gen.2_Missense_Mutation_p.E308D	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	443					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			TCTTGAACATCTCCTGGGCAG	0.657		NA											12	61					0	0	0	0
WHSC2	7469	broad.mit.edu	37	4	1985419	1985419	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:1985419C>G	uc003gem.2	-	10	1579	c.1339G>C	c.(1339-1341)GAG>CAG	p.E447Q	WHSC2_uc003gek.2_Missense_Mutation_p.E173Q|WHSC2_uc003gel.2_Missense_Mutation_p.E361Q|WHSC2_uc003gen.2_Missense_Mutation_p.E301Q	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	436					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			AACATCTGCTCTCTCTACAGC	0.667		NA											8	47					0	0	0	0
DCAF16	54876	broad.mit.edu	37	4	17805653	17805653	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:17805653C>T	uc003gpn.2	-	3	1173	c.112G>A	c.(112-114)GAA>AAA	p.E38K	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	38						CUL4 RING ubiquitin ligase complex				ovary(1)	1						GAGTCCTCTTCTTCAGAGGAA	0.423		NA											13	103					0	0	0	0
CWH43	80157	broad.mit.edu	37	4	49052833	49052833	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:49052833G>C	uc003gyv.2	+	15	2170	c.1988G>C	c.(1987-1989)AGA>ACA	p.R663T	CWH43_uc011bzl.1_Missense_Mutation_p.R636T	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	663					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ATAGACCACAGAGAAGTTTCT	0.398		NA											5	51					0	0	0	0
SCLT1	132320	broad.mit.edu	37	4	129857913	129857913	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:129857913C>G	uc003igp.2	-	18	2232	c.1726G>C	c.(1726-1728)GAA>CAA	p.E576Q	SCLT1_uc003ign.2_Missense_Mutation_p.E240Q|SCLT1_uc003igo.2_Missense_Mutation_p.E186Q|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	576	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TGCCTCAGTTCAACAATGGAA	0.363		NA											7	35					0	0	0	0
MARCH11	441061	broad.mit.edu	37	5	16067874	16067874	+	Silent	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:16067874A>T	uc003jfo.2	-	4	1128	c.915T>A	c.(913-915)GTT>GTA	p.V305V	MARCH11_uc010itw.1_Silent_p.V61V	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	305						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						ACACTCTGTAAACTGCAGCTC	0.408		NA											6	46					0	0	0	0
MGC42105	167359	broad.mit.edu	37	5	43246074	43246074	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:43246074C>T	uc003jno.2	+	2	1078	c.197C>T	c.(196-198)ACG>ATG	p.T66M		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	66							ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						AGGGAGATCACGCTGGGGAAA	0.552		NA											14	102					0	0	0	0
CWC27	10283	broad.mit.edu	37	5	64267529	64267529	+	Splice_Site	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:64267529G>C	uc003jtn.1	+	12	1262	c.1043_splice	c.e12-1	p.E348_splice	CWC27_uc010iwt.1_Splice_Site_p.E348_splice	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10						protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						CTATTCTTTAGAGGAAGAAGC	0.418		NA											7	92					0	0	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715437	68715437	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:68715437C>G	uc003jwq.2	+	2	284	c.225C>G	c.(223-225)CTC>CTG	p.L75L	MARVELD2_uc010ixf.2_Silent_p.L75L|MARVELD2_uc003jwr.1_Silent_p.L75L|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	75	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CGCCAGATCTCAAACCAGTAA	0.522		NA											9	66					0	0	0	0
ZNF366	167465	broad.mit.edu	37	5	71757020	71757020	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:71757020C>G	uc003kce.1	-	2	490	c.304G>C	c.(304-306)GAG>CAG	p.E102Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGTTCTCCTCTGAGTGGAGG	0.582		NA											54	232					0	0	0	0
KIF3A	11127	broad.mit.edu	37	5	132051521	132051521	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:132051521C>G	uc003kxo.2	-	8	1211	c.1057G>C	c.(1057-1059)GAA>CAA	p.E353Q	KIF3A_uc003kxn.2_Missense_Mutation_p.E312Q|KIF3A_uc011cxf.1_Missense_Mutation_p.E353Q|KIF3A_uc003kxp.2_Missense_Mutation_p.E353Q	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	353					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGATCTTCATTAATTCTA	0.333		NA											9	48					0	0	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:140237074G>A	uc003lhx.2	+	1	1441	c.1441G>A	c.(1441-1443)GCG>ACG	p.A481T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A481T|PCDHA10_uc011dad.1_Missense_Mutation_p.A481T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	481	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662		NA											24	142					0	0	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427536	148427536	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:148427536G>A	uc003lpu.2	-	3	320	c.168C>T	c.(166-168)TTC>TTT	p.F56F	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Silent_p.F56F|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Silent_p.F56F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	56							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTACACAGAAGGAGAGTG	0.502		NA											20	171					0	0	0	0
C5orf41	153222	broad.mit.edu	37	5	172550143	172550143	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:172550143C>T	uc003mch.2	+	8	2046	c.1742C>T	c.(1741-1743)CCA>CTA	p.P581L	C5orf41_uc011dfd.1_Missense_Mutation_p.P581L	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	581							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTACAGAATCCAAGAGATGAG	0.363		NA											14	103					0	0	0	0
ZNF354A	6940	broad.mit.edu	37	5	178152447	178152447	+	Silent	SNP	C	C	T	rs146853988	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178152447C>T	uc003mjj.2	-	4	384	c.186G>A	c.(184-186)GTG>GTA	p.V62V		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	62	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACAGGGAGATCACTTTTGGTT	0.468		NA											15	113					0	0	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178563011	178563011	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178563011T>C	uc003mjw.2	-	13	1984	c.1984A>G	c.(1984-1986)AGG>GGG	p.R662G		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	662	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGTCTCCCTGGACTCGCAG	0.632		NA											5	144					0	0	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779660	31779660	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31779660G>A	uc003nxh.2	-	2	273	c.90C>T	c.(88-90)ATC>ATT	p.I30I	HSPA1L_uc010jte.2_Silent_p.I30I	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	30					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CGTTGGCGATGATCTCCACCT	0.607		NA											8	120					0	0	0	0
CYP21A2	1589	broad.mit.edu	37	6	31975160	31975160	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31975160G>A	uc010jtp.2	+	8	971	c.853G>A	c.(853-855)GCT>ACT	p.A285T	CYP21A2_uc011dpb.1_Missense_Mutation_p.A255T			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	284					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CTTGCACATGGCTGCAGTGGA	0.607		NA											35	187					0	0	0	0
ZNF318	24149	broad.mit.edu	37	6	43323487	43323487	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:43323487G>A	uc003oux.2	-	4	1663	c.1585C>T	c.(1585-1587)CCC>TCC	p.P529S	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	529					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAATGTCGGGAAAGCTACGT	0.488		NA											87	334					0	0	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740385	50740385	+	Silent	SNP	G	G	A	rs149503577		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:50740385G>A	uc003paf.2	+	8	1679	c.1167G>A	c.(1165-1167)CCG>CCA	p.P389P	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	389	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.P389L(1)		ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					TTGGGACTCCGGCAATATGTG	0.428		NA											12	69					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51612823	51612823	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51612823C>G	uc003pah.1	-	58	9867	c.9591G>C	c.(9589-9591)CAG>CAC	p.Q3197H	PKHD1_uc010jzn.1_Missense_Mutation_p.Q1180H|PKHD1_uc003pai.2_Missense_Mutation_p.Q3197H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3197	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TAAGCACAATCTGCACTTTTT	0.423		NA											27	164					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51934279	51934279	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51934279G>C	uc003pah.1	-	11	1030	c.754C>G	c.(754-756)CTT>GTT	p.L252V	PKHD1_uc003pai.2_Missense_Mutation_p.L252V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	252	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TATAGGAAAAGATCCTGTTTA	0.453		NA											42	247					0	0	0	0
MCM3	4172	broad.mit.edu	37	6	52129419	52129419	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:52129419G>T	uc003pan.1	-	17	2504	c.2394C>A	c.(2392-2394)GTC>GTA	p.V798V	MCM3_uc011dwu.1_Silent_p.V752V	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	798					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					CAGACACCATGACCTGATTGT	0.532		NA											11	139					0.000978159	0.00102707	1	0
SYNCRIP	10492	broad.mit.edu	37	6	86346765	86346765	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:86346765C>G	uc003pla.2	-	6	1127	c.586G>C	c.(586-588)GAT>CAT	p.D196H	SYNCRIP_uc003pku.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pky.2_Missense_Mutation_p.D98H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D44H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D196H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	196	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTGAGTGGATCCATCATTAGA	0.403		NA											9	69					0	0	0	0
BACH2	60468	broad.mit.edu	37	6	90660199	90660199	+	Silent	SNP	G	G	C	rs142894061	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:90660199G>C	uc011eab.1	-	7	2435	c.1626C>G	c.(1624-1626)CTC>CTG	p.L542L	BACH2_uc003pnw.2_Silent_p.L542L|BACH2_uc010kch.2_Silent_p.L542L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	542						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAACTCACAGAGAGGGAGGC	0.607		NA											26	55					0	0	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587118	111587118	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587118G>A	uc003puv.3	+	4	775	c.353G>A	c.(352-354)GGA>GAA	p.G118E		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	118	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGGGACAAAGGAGCCCCACAT	0.433		NA											27	70					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	144780337	144780337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:144780337C>T	uc003qkt.2	+	20	2646	c.2554C>T	c.(2554-2556)CAC>TAC	p.H852Y	UTRN_uc010khq.1_Missense_Mutation_p.H852Y	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	852	Interaction with SYNM.|Spectrin 6.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGGCCTTCACCCCAAAAT	0.507		NA											4	54					0	0	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278194	7278194	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:7278194G>C	uc010ktn.2	+	3	752	c.529G>C	c.(529-531)GAC>CAC	p.D177H	C1GALT1_uc003sra.2_Missense_Mutation_p.D177H|C1GALT1_uc010kto.1_Missense_Mutation_p.D177H	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	177	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGTCATACTAGACAATTTGAG	0.368		NA											8	69					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21939660	21939660	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:21939660G>A	uc003svc.2	+	82	13277	c.13246G>A	c.(13246-13248)GAT>AAT	p.D4416N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4416					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						CTTGACTGCTGATGTTACCAA	0.448		NA							Kartagener_syndrome				13	48					0	0	0	0
ZNF735	730291	broad.mit.edu	37	7	63680190	63680190	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:63680190C>G	uc011kdn.1	+	4	761	c.761C>G	c.(760-762)TCA>TGA	p.S254*		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGTGGCCCTCAAACCTTACT	0.453		NA											4	17					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87148696C>T	uc003uiz.1	-	24	3291	c.2873G>A	c.(2872-2874)CGG>CAG	p.R958Q	ABCB1_uc011khc.1_Missense_Mutation_p.R894Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.323		NA											10	60					0	0	0	0
ADAM22	53616	broad.mit.edu	37	7	87782587	87782587	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87782587C>T	uc003ujn.2	+	21	1812	c.1733C>T	c.(1732-1734)ACG>ATG	p.T578M	ADAM22_uc003ujk.1_Missense_Mutation_p.T578M|ADAM22_uc003ujl.1_Missense_Mutation_p.T578M|ADAM22_uc003ujm.2_Missense_Mutation_p.T578M|ADAM22_uc003ujo.2_Missense_Mutation_p.T578M|ADAM22_uc003ujp.1_Missense_Mutation_p.T630M	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	578	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGAAGGGACGGAGAAGGGT	0.433		NA											6	46					0	0	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474426	99474426	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:99474426G>A	uc003usc.1	-	1	231	c.231C>T	c.(229-231)ATC>ATT	p.I77I		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTTCAGGATGATTGTGGAGA	0.483		NA											16	71					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100676143	100676143	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:100676143G>A	uc003uxp.1	+	3	1499	c.1446G>A	c.(1444-1446)CAG>CAA	p.Q482Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	482	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|6.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAACTCAGGTGACCACTT	0.473		NA											60	407					0	0	0	0
SYPL1	6856	broad.mit.edu	37	7	105752650	105752650	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:105752650G>A	uc003vdp.2	-	2	141	c.59C>T	c.(58-60)TCC>TTC	p.S20F	SYPL1_uc003vdo.2_Missense_Mutation_p.S2F	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	20	Cytoplasmic (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						CTGGAAGCCGGACATCCTCTG	0.557		NA											7	53					0	0	0	0
CNOT4	4850	broad.mit.edu	37	7	135098284	135098284	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:135098284G>A	uc003vsv.1	-	6	947	c.640C>T	c.(640-642)CAT>TAT	p.H214Y	CNOT4_uc003vss.2_Missense_Mutation_p.H214Y|CNOT4_uc011kpz.1_Missense_Mutation_p.H214Y|CNOT4_uc003vst.2_Missense_Mutation_p.H214Y|CNOT4_uc003vsu.1_Missense_Mutation_p.H214Y|CNOT4_uc011kpy.1_Missense_Mutation_p.H214Y	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	214	C3H1-type.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						CCCAATTCATGAAGATACATG	0.408		NA											12	84					0	0	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418934	138418934	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:138418934G>A	uc003vuf.2	-	15	1876	c.1638C>T	c.(1636-1638)ATC>ATT	p.I546I	ATP6V0A4_uc003vug.2_Silent_p.I546I|ATP6V0A4_uc003vuh.2_Silent_p.I546I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	546	Helical; (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CAATTCCCAGGATCACCGACA	0.428		NA											7	49					0	0	0	0
MTMR7	9108	broad.mit.edu	37	8	17157648	17157648	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:17157648G>C	uc003wxm.2	-	14	1945	c.1706C>G	c.(1705-1707)TCT>TGT	p.S569C	MTMR7_uc011kya.1_Missense_Mutation_p.S203C|MTMR7_uc011kyb.1_Missense_Mutation_p.S160C	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	569							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		GTCTGAGGTAGAAAACCCTGA	0.438		NA											25	155					0	0	0	0
IDO1	3620	broad.mit.edu	37	8	39781060	39781060	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:39781060G>C	uc003xnm.2	+	7	724	c.610G>C	c.(610-612)GCT>CCT	p.A204P	IDO1_uc003xnn.2_RNA	NM_002164	NP_002155	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	204					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)	2					L-Tryptophan(DB00150)	GTTGGAAATAGCTTCTTGCTT	0.423		NA											6	45					0	0	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570373	53570373	+	Silent	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:53570373T>A	uc003xre.3	-	15	2574	c.2016A>T	c.(2014-2016)CCA>CCT	p.P672P	RB1CC1_uc003xrf.3_Silent_p.P672P	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	672					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGTCAGTGGTGGAGGAGTTC	0.443		NA											10	70					0	0	0	0
EYA1	2138	broad.mit.edu	37	8	72267089	72267089	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:72267089C>T	uc003xys.3	-	2	339	c.52G>A	c.(52-54)GAA>AAA	p.E18K	EYA1_uc003xyr.3_Missense_Mutation_p.E18K|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.E18K|EYA1_uc011lfe.1_Missense_Mutation_p.E18K|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	18					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGGGGATTCACTACTACCA	0.453		NA											29	188					0	0	0	0
E2F5	1875	broad.mit.edu	37	8	86114424	86114424	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:86114424G>A	uc003ycz.3	+	2	314	c.277G>A	c.(277-279)GAT>AAT	p.D93N	E2F5_uc003yda.3_Missense_Mutation_p.D93N|E2F5_uc010mab.2_5'UTR	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	93	Potential.|DEF box.|Leucine-zipper.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						GAGAATTTATGATATCACCAA	0.383		NA											6	35					0	0	0	0
FZD6	8323	broad.mit.edu	37	8	104336827	104336827	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:104336827C>G	uc003ylh.2	+	4	777	c.493C>G	c.(493-495)CTT>GTT	p.L165V	FZD6_uc003yli.2_Missense_Mutation_p.L165V|FZD6_uc003ylj.2_Missense_Mutation_p.L165V|FZD6_uc011lhn.1_Missense_Mutation_p.L131V|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.L110V	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	165	Extracellular (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCCAAGGCATCTTAAGACTTC	0.428		NA											22	139					0	0	0	0
TG	7038	broad.mit.edu	37	8	133885398	133885398	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:133885398G>C	uc003ytw.2	+	5	611	c.570G>C	c.(568-570)ATG>ATC	p.M190I		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	190	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGAGTTTATGCCTGTCCAGT	0.502		NA											8	55					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:21971029C>T	uc003zpk.2	-	2	541	c.329G>A	c.(328-330)TGG>TAG	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	110	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	25					0	0	0	0
SPAG8	26206	broad.mit.edu	37	9	35810671	35810671	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:35810671C>T	uc003zye.2	-	4	1163	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	SPAG8_uc003zyf.2_Missense_Mutation_p.E267K|SPAG8_uc003zyg.2_Missense_Mutation_p.E350K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	350						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGCATGGCTTCACGCTTCCCT	0.527		NA											5	48					0	0	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318700	79318700	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:79318700G>A	uc010mpk.2	-	9	7953	c.7829C>T	c.(7828-7830)TCT>TTT	p.S2610F	PRUNE2_uc004akj.3_Missense_Mutation_p.S63F|PRUNE2_uc010mpl.1_Missense_Mutation_p.S63F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2610					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTTCTCTGCAGAGAGACCTTT	0.453		NA											13	90					0	0	0	0
TRUB2	26995	broad.mit.edu	37	9	131084698	131084698	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:131084698C>A	uc004buq.1	-	1	1	c.-9_splice	c.e1-1		COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank	NM_015679	NP_056494	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase homolog 2						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(1)	1						ACTTGAAGATCACAGCACCCG	0.622		NA											13	49					0.000151284	0.000159609	1	0
EDF1	8721	broad.mit.edu	37	9	139757370	139757370	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:139757370C>G	uc004cjt.1	-	4	401	c.373G>C	c.(373-375)GAG>CAG	p.E125Q	EDF1_uc004cju.1_Missense_Mutation_p.E125Q	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	125	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATGGCCCGCTCGATTTTGCCA	0.582		NA											12	83					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31986458	31986458	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:31986458C>G	uc004dda.1	-	45	6856	c.6612G>C	c.(6610-6612)AAG>AAC	p.K2204N	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.K860N|DMD_uc004dcx.2_Missense_Mutation_p.K863N|DMD_uc004dcz.2_Missense_Mutation_p.K2081N|DMD_uc004dcy.1_Missense_Mutation_p.K2200N|DMD_uc004ddb.1_Missense_Mutation_p.K2196N|DMD_uc010ngo.1_Missense_Mutation_p.K113N|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2204	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCCCTACCTCTTTTTTCTGT	0.398		NA											17	180					0	0	0	0
ZNF182	7569	broad.mit.edu	37	X	47837082	47837082	+	Missense_Mutation	SNP	C	C	G	rs140603964		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:47837082C>G	uc004dir.2	-	7	750	c.404G>C	c.(403-405)CGT>CCT	p.R135P	ZNF182_uc004dis.2_Missense_Mutation_p.R116P|ZNF182_uc004dit.2_Missense_Mutation_p.R135P|ZNF182_uc011mlu.1_Missense_Mutation_p.R115P	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						ATGACAGTCACGAGCACTCTT	0.378		NA											14	85					0	0	0	0
TBC1D25	4943	broad.mit.edu	37	X	48417355	48417355	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:48417355G>C	uc004dka.1	+	4	570	c.459G>C	c.(457-459)GAG>GAC	p.E153D	TBC1D25_uc011mly.1_Missense_Mutation_p.E95D|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_Intron|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Missense_Mutation_p.E157D|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_Intron	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	153						intracellular	Rab GTPase activator activity			ovary(1)	1						TGCTGGCTGAGAAACGGTCAT	0.537		NA											6	68					0	0	0	0
FAM123B	139285	broad.mit.edu	37	X	63412536	63412536	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:63412536C>A	uc004dvo.2	-	2	904	c.631G>T	c.(631-633)GCC>TCC	p.A211S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	211					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						ACCTGAGGGGCTGAGCTCACG	0.597		NA											13	89					1.5e-05	1.6e-05	1	0
MED12	9968	broad.mit.edu	37	X	70346843	70346843	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:70346843G>C	uc004dyy.2	+	20	2909	c.2710G>C	c.(2710-2712)GAG>CAG	p.E904Q	MED12_uc011mpq.1_Missense_Mutation_p.E904Q|MED12_uc004dyz.2_Missense_Mutation_p.E904Q|MED12_uc004dza.2_Missense_Mutation_p.E751Q|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	904					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GAGTGTAGTTGAGGCTGAGCT	0.542		NA											10	102					0	0	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433878	72433878	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:72433878T>C	uc004ebi.2	-	1	807	c.451A>G	c.(451-453)AGA>GGA	p.R151G	NAP1L2_uc011mqj.1_Missense_Mutation_p.R9G	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					ATCTGACGTCTTTTTTCCAGT	0.383		NA											3	205					0	0	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996182	140996182	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:140996182C>A	uc004fbt.2	+	4	3278	c.2992C>A	c.(2992-2994)CGC>AGC	p.R998S	MAGEC1_uc010nsl.1_Missense_Mutation_p.R65S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	998	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCAGAACCGCCTCCTGAT	0.512		NA								HNSCC(15;0.026)			20	185					2.38e-13	2.69e-13	1	0
FAM3A	60343	broad.mit.edu	37	X	153735817	153735817	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:153735817G>C	uc004fls.1	-	7	667	c.390C>G	c.(388-390)GTC>GTG	p.V130V	FAM3A_uc004flt.1_Silent_p.V144V|FAM3A_uc011mzp.1_Silent_p.V113V|FAM3A_uc004flu.1_Silent_p.V127V|FAM3A_uc011mzq.1_Silent_p.V130V|FAM3A_uc004flw.1_Silent_p.V130V	NM_021806	NP_068578	P98173	FAM3A_HUMAN	family 3, member A protein precursor	130						extracellular region				large_intestine(1)	1	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)					ACAGGTCGTTGACATCTGGGG	0.582		NA											7	31					0	0	0	0
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:104879687delT	uc010rva.1	-	2	60	c.28delA	c.(28-30)AGGfs	p.R10fs	CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	10					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388		NA											7	86	---	---	---	---	NA	NA	NA	NA
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:103695960delG	uc001tjt.2	-	6	1097	c.1009delC	c.(1009-1011)CGCfs	p.R337fs	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	337										ovary(1)|central_nervous_system(1)	2						CGGGTTGGGCGGGGGGGTGCT	0.587		NA											8	173	---	---	---	---	NA	NA	NA	NA
LUC7L3	51747	broad.mit.edu	37	17	48827881	48827882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:48827881_48827882insA	uc002isr.2	+	10	1275_1276	c.1158_1159insA	c.(1156-1161)GATAAAfs	p.D386fs	LUC7L3_uc010wmw.1_Frame_Shift_Ins_p.D310fs|LUC7L3_uc002isq.2_Frame_Shift_Ins_p.D386fs|LUC7L3_uc002iss.2_Frame_Shift_Ins_p.D386fs|uc002ist.1_5'Flank	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	386_387	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						GATCTGATGATAAAAAAAGTAG	0.356		NA											11	146	---	---	---	---	NA	NA	NA	NA
KIAA1919	91749	broad.mit.edu	37	6	111587361	111587361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587361delT	uc003puv.3	+	4	1018	c.596delT	c.(595-597)ATTfs	p.I199fs		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	199	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTTTCTGTCATTTTTTTTTGT	0.368		NA											8	71	---	---	---	---	NA	NA	NA	NA
HAS2	3037	broad.mit.edu	37	8	122626357	122626358	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:122626357_122626358insAA	uc003yph.2	-	4	2188_2189	c.1650_1651insTT	c.(1648-1653)CTTGATfs	p.L550fs		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	550_551	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCATACATCAAGCACCATGT	0.446		NA											30	98	---	---	---	---	NA	NA	NA	NA
