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	pox_cutoff	isArtifactMode	oxoGCut	init_n_lod
KIF1B	23095	broad.mit.edu	37	1	10399860	10399860	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:10399860G>A	uc001aqx.3	+	32	3658	c.3456G>A	c.(3454-3456)ACG>ACA	p.T1152T	KIF1B_uc001aqw.3_Silent_p.T1106T|KIF1B_uc001aqy.2_Silent_p.T1126T|KIF1B_uc001aqz.2_Silent_p.T1152T|KIF1B_uc001ara.2_Silent_p.T1112T|KIF1B_uc001arb.2_Silent_p.T1138T	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1152					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CATTCTCCACGGAGCCCCTCA	0.393000													10	58					0	0	0.010729	0	0	
DFFA	1676	broad.mit.edu	37	1	10527292	10527292	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:10527292T>A	uc001arj.2	-	3	494	c.396A>T	c.(394-396)AAA>AAT	p.K132N	DFFA_uc001ark.2_Missense_Mutation_p.K132N	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	132					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ACAGATCTTCTTTCAGCTGCC	0.537000													36	184					0	0	0.005524	0	0	
NPPA	4878	broad.mit.edu	37	1	11907410	11907410	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:11907410C>T	uc001ati.2	-	2	309	c.210G>A	c.(208-210)GCG>GCA	p.A70A	CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	70					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCAGCCCCCGCTTCTTCAT	0.592000													18	43					0	0	0.010504	0	0	
PRAMEF12	390999	broad.mit.edu	37	1	12835687	12835687	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:12835687C>T	uc001aui.2	+	2	316	c.289C>T	c.(289-291)CGG>TGG	p.R97W		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	97										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACCCACAGGCGGTGGAAACT	0.517000													17	340					0	0	0.012319	0	0	
SLC25A34	284723	broad.mit.edu	37	1	16064477	16064477	+	Silent	SNP	G	A	A	rs12025441		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:16064477G>A	uc001axb.1	+	2	604	c.432G>A	c.(430-432)CAG>CAA	p.Q144Q	SLC25A34_uc009vok.1_5'Flank	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	144	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGACACCAGCACAATCACC	0.642000													3	59					0	0	0.004672	0	0	
ZNF362	149076	broad.mit.edu	37	1	33747303	33747303	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:33747303G>A	uc001bxc.1	+	6	969	c.799G>A	c.(799-801)GCC>ACC	p.A267T		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	267	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTTGCCAACGCCTCCTACCT	0.592000													27	180					0	0	0.006320	0	0	
COL8A2	1296	broad.mit.edu	37	1	36563353	36563353	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:36563353C>T	uc001bzv.1	-	2	1936	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	COL8A2_uc001bzw.1_Silent_p.P578P	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	643	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TATAGGTGGCCGGCACGTTGT	0.602000													7	95					0	0	0.001984	0	0	
KDM4A	9682	broad.mit.edu	37	1	44137280	44137280	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:44137280G>A	uc001cjx.2	+	11	1634	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	490					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						GGATCTTTCTGTGAATCCTGC	0.468000													38	99					0	0	0.007835	0	0	
CACHD1	57685	broad.mit.edu	37	1	65139147	65139147	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:65139147G>A	uc001dbo.1	+	19	2679	c.2574G>A	c.(2572-2574)GCG>GCA	p.A858A	CACHD1_uc001dbp.1_Silent_p.A613A|CACHD1_uc001dbq.1_Silent_p.A613A|CACHD1_uc010opa.1_Silent_p.A102A	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	909	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						CCAGCCTTGCGGTAAGTTGAT	0.398000													8	117					0	0	0.010729	0	0	
ANKRD35	148741	broad.mit.edu	37	1	145560139	145560139	+	Missense_Mutation	SNP	G	A	A	rs150487019	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:145560139G>A	uc001eob.1	+	8	733	c.625G>A	c.(625-627)GGA>AGA	p.G209R	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.G52R	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	209	ANK 5.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGAGCCACGGAGCTGACGC	0.582000													13	88					0	0	0.003163	0	0	
FLG	2312	broad.mit.edu	37	1	152279018	152279018	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:152279018C>T	uc001ezu.1	-	3	8380	c.8344G>A	c.(8344-8346)GGT>AGT	p.G2782S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2782	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCGTCTTGGGAT	0.602000									Ichthyosis				73	755					0	0	0.014410	0	0	
FAM189B	10712	broad.mit.edu	37	1	155223695	155223695	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:155223695T>G	uc001fjm.2	-	4	1074	c.468A>C	c.(466-468)AAA>AAC	p.K156N	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Missense_Mutation_p.K137N|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Missense_Mutation_p.K156N	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	156						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						TAGGGGCAACTTTCAGTTCCT	0.607000													8	53					0	0	0.003080	0	0	
SMG5	23381	broad.mit.edu	37	1	156236454	156236454	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:156236454C>T	uc001foc.3	-	11	1282	c.1133G>A	c.(1132-1134)AGT>AAT	p.S378N	SMG5_uc009wrv.2_5'Flank	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	378					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AATGGCTGCACTGTACTGCTT	0.557000													9	56					0	0	0.013537	0	0	
ATP1A2	477	broad.mit.edu	37	1	160099970	160099970	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:160099970C>T	uc001fvc.2	+	12	1672	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	ATP1A2_uc001fvb.2_Missense_Mutation_p.R514W|ATP1A2_uc001fvd.2_Missense_Mutation_p.R250W|ATP1A2_uc009wtg.1_Missense_Mutation_p.R202W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	514	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATTCTGGACCGGTGCTCCAC	0.587000													34	125					0	0	0.003271	0	0	
ILDR2	387597	broad.mit.edu	37	1	166891981	166891981	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:166891981G>A	uc001gdx.1	-	8	1116	c.1060C>T	c.(1060-1062)CAT>TAT	p.H354Y		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	354	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						CTCATCTGATGGAAAGACTGG	0.517000													47	128					0	0	0.014410	0	0	
CACNA1E	777	broad.mit.edu	37	1	181732633	181732633	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:181732633G>A	uc001gow.2	+	34	4946	c.4781G>A	c.(4780-4782)CGC>CAC	p.R1594H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1482H|CACNA1E_uc001gox.1_Missense_Mutation_p.R820H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R820H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1594	Cytoplasmic (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TATACCATACGCATTTTGCTG	0.512000													12	39					0	0	0.010729	0	0	
LOC148709	148709	broad.mit.edu	37	1	202842892	202842892	+	RNA	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:202842892G>A	uc001gyk.1	+	3		c.844G>A				NR_002929				Homo sapiens cDNA FLJ31247 fis, clone KIDNE2005296, weakly similar to ACTIN, CYTOPLASMIC 1.												0						AGACCCACACGGTGCCCGTCT	0.572000													6	22					0	0	0.001168	0	0	
PLXNA2	5362	broad.mit.edu	37	1	208218522	208218522	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:208218522C>T	uc001hgz.2	-	19	4287	c.3529G>A	c.(3529-3531)GCC>ACC	p.A1177T		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1177	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGAGTTTGGCCCCTCCAGAG	0.438000													4	133					0	0	0.009096	0	0	
OBSCN	84033	broad.mit.edu	37	1	228444584	228444584	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:228444584C>T	uc009xez.1	+	15	4586	c.4542C>T	c.(4540-4542)TGC>TGT	p.C1514C	OBSCN_uc001hsn.2_Silent_p.C1514C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1514	Ig-like 15.				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)				AGTACAGCTGCGAGGCGGGGA	0.647000													23	65					0	0	0.002780	0	0	
ACTN2	88	broad.mit.edu	37	1	236902618	236902618	+	Missense_Mutation	SNP	G	A	A	rs142482143	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:236902618G>A	uc001hyf.2	+	10	1097	c.893G>A	c.(892-894)CGT>CAT	p.R298H	ACTN2_uc001hyg.2_Missense_Mutation_p.R90H|ACTN2_uc009xgi.1_Missense_Mutation_p.R298H|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	298	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAATGGATTCGTCGCACGATC	0.517000													59	131					0	0	0.014410	0	0	
CDC123	8872	broad.mit.edu	37	10	12277093	12277093	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:12277093G>A	uc001ill.2	+	8	820	c.536G>A	c.(535-537)CGA>CAA	p.R179Q	CDC123_uc001ilm.2_Missense_Mutation_p.R179Q	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	179					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						GCTGAGTTTCGATGTTTTGTC	0.333000													5	122					0	0	0.001168	0	0	
AGAP7	653268	broad.mit.edu	37	10	51472552	51472552	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:51472552G>T	uc001jio.2	-	4	554	c.428C>A	c.(427-429)TCT>TAT	p.S143Y	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	143					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						TTGTACTCATGATATTATTGT	0.368000													8	54					1.49906e-05	1.66562e-05	0.002450	1	0	
BICC1	80114	broad.mit.edu	37	10	60573731	60573731	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:60573731A>G	uc001jki.1	+	18	2518	c.2518A>G	c.(2518-2520)AAA>GAA	p.K840E	BICC1_uc001jkj.1_Missense_Mutation_p.K481E	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	840					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						CCCTAAGCGTAAACAAAACAA	0.433000													25	55					0	0	0.004656	0	0	
JMJD1C	221037	broad.mit.edu	37	10	64977091	64977091	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:64977091C>A	uc001jmn.2	-	5	854	c.554G>T	c.(553-555)GGT>GTT	p.G185V	JMJD1C_uc001jml.2_5'UTR|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_Missense_Mutation_p.G3V|JMJD1C_uc009xpi.2_Missense_Mutation_p.G3V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	185					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGAATAAGGACCTTAAAAAAA	0.348000													9	45					0.00829132	0.00907507	0.008291	1	0	
LRIT2	340745	broad.mit.edu	37	10	85982052	85982052	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:85982052C>T	uc001kcy.2	-	3	1285	c.1277G>A	c.(1276-1278)GGC>GAC	p.G426D	LRIT2_uc010qmc.1_Missense_Mutation_p.G436D	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	426	Fibronectin type-III.					integral to membrane				ovary(2)	2						ATATTTTGTGCCAGGAAGGAG	0.542000													4	114					0	0	0.001168	0	0	
DMBT1	1755	broad.mit.edu	37	10	124359592	124359592	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:124359592G>A	uc001lgk.1	+	27	3399	c.3293G>A	c.(3292-3294)CGG>CAG	p.R1098Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R1088Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R599Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1098Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R59Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1098					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCAGTCCCGGCCAACACCT	0.527000													37	377					0	0	0.007835	0	0	
CTBP2	1488	broad.mit.edu	37	10	126691934	126691934	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:126691934C>T	uc009yak.2	-	4	473	c.186G>A	c.(184-186)GCG>GCA	p.A62A	CTBP2_uc009yal.2_Silent_p.A62A|CTBP2_uc001lif.3_Silent_p.A62A|CTBP2_uc001lih.3_Silent_p.A62A|CTBP2_uc001lid.3_Silent_p.A130A|CTBP2_uc001lie.3_Silent_p.A602A	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	62					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCGTCGACTGCGCGTCACAGA	0.677000													4	100					0	0	0.000602	0	0	
EIF3F	8665	broad.mit.edu	37	11	8008920	8008920	+	Silent	SNP	A	G	G	rs148453570	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:8008920A>G	uc001mfw.2	+	1	54	c.21A>G	c.(19-21)CCA>CCG	p.P7P	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	7						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCGGTACCAGTAAGTGCTC	0.318000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	77					0	0	0.014410	0	0	
OR8H1	219469	broad.mit.edu	37	11	56058005	56058005	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:56058005G>A	uc010rje.1	-	1	534	c.534C>T	c.(532-534)TGC>TGT	p.C178C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GAGACGTGTCGCAGAAAAAGT	0.438000													19	27					0	0	0.014323	0	0	
PYGM	5837	broad.mit.edu	37	11	64520592	64520592	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:64520592G>A	uc001oax.3	-	12	2288	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	PYGM_uc001oay.3_Missense_Mutation_p.R403C	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	491					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	ACCAGCCAGCGCCGAGGGGTG	0.572000													8	374					0	0	0.004482	0	0	
MALAT1	378938	broad.mit.edu	37	11	65273753	65273753	+	RNA	SNP	C	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:65273753C>G	uc010roh.1	+	1		c.8521C>G			uc001ody.2_5'Flank	NR_002819				Homo sapiens clone alpha1 mRNA sequence.												0						AGCACAATATCTTTGAACTAT	0.373000													13	28					0	0	0.002450	0	0	
RSF1	51773	broad.mit.edu	37	11	77387955	77387955	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:77387955T>C	uc001oyn.2	-	13	3343	c.3223A>G	c.(3223-3225)AAA>GAA	p.K1075E	RSF1_uc001oym.2_Missense_Mutation_p.K823E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1075					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)			TGGGGTCGTTTATTTTCTTTT	0.468000													4	118					0	0	0.000602	0	0	
CCDC67	159989	broad.mit.edu	37	11	93104248	93104248	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:93104248G>A	uc001pdq.2	+	7	691	c.591G>A	c.(589-591)CAG>CAA	p.Q197Q	CCDC67_uc001pdo.1_Silent_p.Q197Q|CCDC67_uc001pdp.2_Silent_p.Q197Q	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	197	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTAAAAAACAGTGCTTAGAAG	0.328000													10	9					0	0	0.006214	0	0	
CRYAB	1410	broad.mit.edu	37	11	111782347	111782347	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:111782347C>T	uc001pmf.1	-	1	127	c.102G>A	c.(100-102)GAG>GAA	p.E34E	CRYAB_uc010rwp.1_Silent_p.E34E|HSPB2_uc001pmg.2_5'Flank|HSPB2_uc009yyj.2_5'Flank|C11orf52_uc001pmh.2_5'Flank	NM_001885	NP_001876	P02511	CRYAB_HUMAN	crystallin, alpha B	34					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding				0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AAAGATCAGACTCCAACAGGT	0.597000													9	20					0	0	0.004482	0	0	
CCDC153	283152	broad.mit.edu	37	11	119063944	119063944	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:119063944C>T	uc010rze.1	-	5	354	c.266G>A	c.(265-267)CGC>CAC	p.R89H		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	coiled-coil domain containing 153	89	Potential.										0						ATGGCACTGGCGACTCATCTC	0.592000													12	49					0	0	0.013537	0	0	
PUS3	83480	broad.mit.edu	37	11	125764059	125764059	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:125764059G>A	uc001qcy.2	-	4	1165	c.1067C>T	c.(1066-1068)GCT>GTT	p.A356V	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	356						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AGTTTTGACAGCATGATTAGC	0.428000													4	72					0	0	0.009096	0	0	
PDZRN4	29951	broad.mit.edu	37	12	41957359	41957359	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:41957359G>C	uc010skn.1	+	8	846	c.778G>C	c.(778-780)GAA>CAA	p.E260Q	PDZRN4_uc001rmq.3_Missense_Mutation_p.E201Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E199Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E86Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	459	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATAAATGGGGAAGATGTCCA	0.418000													6	67					0	0	0.001984	0	0	
PRPF40B	25766	broad.mit.edu	37	12	50036741	50036741	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:50036741G>A	uc001rur.1	+	21	2148	c.2084G>A	c.(2083-2085)GGC>GAC	p.G695D	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.G716D|PRPF40B_uc001ruq.1_Missense_Mutation_p.G682D|PRPF40B_uc001rus.1_Missense_Mutation_p.G637D|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	695					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CACACCAAAGGCCGAAAGCAT	0.542000													8	25					0	0	0.003080	0	0	
RDH5	5959	broad.mit.edu	37	12	56115030	56115030	+	Missense_Mutation	SNP	G	C	C	rs3138143		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:56115030G>C	uc001shk.2	+	2	245	c.62G>C	c.(61-63)CGG>CCG	p.R21P	BLOC1S1_uc001shj.3_Intron|RDH5_uc010spt.1_Missense_Mutation_p.R21P|RDH5_uc010spu.1_Intron|RDH5_uc001shl.2_Missense_Mutation_p.R21P	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	21					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)	CTCAGGGACCGGCAGAGCCTG	0.617000											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	144					0	0	0.004990	0	0	
FAM19A2	338811	broad.mit.edu	37	12	62147508	62147508	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:62147508T>A	uc001sqw.2	-	4	1792	c.279A>T	c.(277-279)AAA>AAT	p.K93N	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.K93N|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	93						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGCACCACCATTTCTGTTCCA	0.383000													9	90					0	0	0.006214	0	0	
DPY19L2	283417	broad.mit.edu	37	12	63976297	63976297	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:63976297A>C	uc001srp.1	-	18	1795	c.1614T>G	c.(1612-1614)TTT>TTG	p.F538L	DPY19L2_uc010sso.1_5'UTR	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	538	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCAATGTGTGAAAAGCCAGCT	0.289000													4	34					0	0	0.009096	0	0	
KCNC2	3747	broad.mit.edu	37	12	75601380	75601380	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:75601380G>A	uc001sxg.1	-	2	928	c.384C>T	c.(382-384)GAC>GAT	p.D128D	KCNC2_uc009zry.2_Silent_p.D128D|KCNC2_uc001sxe.2_Silent_p.D128D|KCNC2_uc001sxf.2_Silent_p.D128D|KCNC2_uc010stw.1_Silent_p.D128D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	128	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						GCCCGCACACGTCTGCGGGGC	0.672000													5	60					0	0	0.000602	0	0	
GPR109B	8843	broad.mit.edu	37	12	123200189	123200189	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:123200189A>C	uc001ucy.3	-	1	1251	c.1096T>G	c.(1096-1098)TCC>GCC	p.S366A	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	366	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	CCCTTCTTGGAATGGTTATTT	0.527000													29	199					0	0	0.006320	0	0	
SACS	26278	broad.mit.edu	37	13	23929289	23929289	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr13:23929289G>A	uc001uon.2	-	8	2051	c.1462C>T	c.(1462-1464)CCG>TCG	p.P488S	SACS_uc001uoo.2_Missense_Mutation_p.P341S|SACS_uc001uop.1_Missense_Mutation_p.P275S|SACS_uc001uoq.1_Missense_Mutation_p.P341S	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	488					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTGCCGGGTCTCTCCAC	0.473000													11	106					0	0	0.013537	0	0	
DCLK1	9201	broad.mit.edu	37	13	36445395	36445396	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr13:36445395_36445396GG>TT	uc001uvf.2	-	5	1138_1139	c.905_906CC>AA	c.(904-906)TCC>TAA	p.S302*	uc001uvi.1_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	302	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCTACGCCTGGACGGTCCTGG	0.520000													22	181					0	0	0.004672	0	0	
ELF1	1997	broad.mit.edu	37	13	41517138	41517138	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr13:41517138C>T	uc001uxs.2	-	7	1129	c.756G>A	c.(754-756)AAG>AAA	p.K252K	ELF1_uc010tfc.1_Silent_p.K228K|ELF1_uc010acd.2_Silent_p.K145K	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	252	ETS.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGTTTTTGTGCTTCCCCCACA	0.388000													49	64					0	0	0.014410	0	0	
P704P	641455	broad.mit.edu	37	14	20020001	20020001	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:20020001C>T	uc001vwc.3	-	1	272	c.220G>A	c.(220-222)GGG>AGG	p.G74R	P704P_uc001vwb.3_RNA	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	prostate-specific P704P	74											0						TTGCCGCTCCCCCTGCACCAG	0.587000													25	551					0	0	0.004878	0	0	
SPTB	6710	broad.mit.edu	37	14	65259772	65259772	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:65259772C>A	uc001xht.2	-	13	2663	c.2609G>T	c.(2608-2610)TGG>TTG	p.W870L	SPTB_uc001xhr.2_Missense_Mutation_p.W870L|SPTB_uc001xhs.2_Missense_Mutation_p.W870L|SPTB_uc001xhu.2_Missense_Mutation_p.W870L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	870	Spectrin 6.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCGGCCAGCCACTTCTCCTT	0.602000													23	48					7.33532e-06	8.19173e-06	0.003954	1	0	
SPATA7	55812	broad.mit.edu	37	14	88895764	88895764	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:88895764T>C	uc001xwq.2	+	8	1136	c.985T>C	c.(985-987)TGG>CGG	p.W329R	SPATA7_uc001xwr.2_Missense_Mutation_p.W297R|SPATA7_uc001xws.2_Missense_Mutation_p.W265R|SPATA7_uc001xwt.2_Missense_Mutation_p.W223R|SPATA7_uc001xwu.2_5'UTR	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	329					response to stimulus|visual perception					ovary(1)	1						TGACTCAACATGGGATGAGAT	0.358000													19	76					0	0	0.012319	0	0	
TECPR2	9895	broad.mit.edu	37	14	102931611	102931611	+	Silent	SNP	T	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:102931611T>A	uc001ylw.1	+	17	3922	c.3774T>A	c.(3772-3774)ATT>ATA	p.I1258I	TECPR2_uc010awl.2_Silent_p.I1258I|TECPR2_uc010txx.1_Silent_p.I421I	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1258	TECPR 4.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GGATAATGATTGAGCCACCTG	0.502000													13	57					0	0	0.002450	0	0	
TNFAIP2	7127	broad.mit.edu	37	14	103600064	103600064	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:103600064G>T	uc001ymm.1	+	10	1878	c.1747G>T	c.(1747-1749)GAG>TAG	p.E583*	TNFAIP2_uc010awo.1_Nonsense_Mutation_p.E243*|TNFAIP2_uc010txz.1_Nonsense_Mutation_p.E252*|TNFAIP2_uc010tya.1_Nonsense_Mutation_p.E66*	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	583					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			TACGCTGGCCGAGATCATTCG	0.647000													13	18					3.27435e-08	3.69414e-08	0.002450	1	0	
LCMT2	9836	broad.mit.edu	37	15	43622421	43622422	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr15:43622421_43622422GC>AA	uc001zrg.2	-	1	470_471	c.266_267GC>TT	c.(265-267)GGC>GTT	p.G89V	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	89		S-adenosyl-L-methionine; via carbonyl oxygen (By similarity).			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)	CGAAGCCAGCGCCGAGAGACAA	0.658000													26	28					0	0	0.004672	0	0	
ACAN	176	broad.mit.edu	37	15	89382194	89382194	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr15:89382194G>A	uc010upo.1	+	3	745	c.371G>A	c.(370-372)CGC>CAC	p.R124H	ACAN_uc002bmx.2_Missense_Mutation_p.R124H|ACAN_uc010upp.1_Missense_Mutation_p.R124H|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	124					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGAGCCTGCGCTCCAATGAC	0.622000													25	176					0	0	0.003954	0	0	
TPSD1	23430	broad.mit.edu	37	16	1306318	1306318	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:1306318C>T	uc002clb.1	+	1	46	c.37C>T	c.(37-39)CTG>TTG	p.L13L	TPSD1_uc010brm.1_5'Flank	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	13					proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GAGCCTGCTGCTGCTGGCGCT	0.687000													8	97					0	0	0.004482	0	0	
BAIAP3	8938	broad.mit.edu	37	16	1398100	1398100	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:1398100C>T	uc002clk.1	+	33	3258	c.3258C>T	c.(3256-3258)TCC>TCT	p.S1086S	BAIAP3_uc002clj.2_Silent_p.S1068S|BAIAP3_uc010uuz.1_Silent_p.S1051S|BAIAP3_uc010uva.1_Silent_p.S1023S|BAIAP3_uc010uvc.1_Silent_p.S1015S	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1086	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TCCGCAGTTCCGTGCCTGCCG	0.597000													18	40					0	0	0.010504	0	0	
ZSCAN10	84891	broad.mit.edu	37	16	3139286	3139286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:3139286G>A	uc002ctv.1	-	5	2072	c.1984C>T	c.(1984-1986)CAG>TAG	p.Q662*	ZSCAN10_uc002cty.1_Nonsense_Mutation_p.Q323*|ZSCAN10_uc002ctw.1_Nonsense_Mutation_p.Q580*|ZSCAN10_uc002ctx.1_Nonsense_Mutation_p.Q590*	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	662					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCCTGCTCCTGCCCGGGCTCC	0.711000													6	17					0	0	0.001168	0	0	
NLRC3	197358	broad.mit.edu	37	16	3613636	3613636	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:3613636C>T	uc010btn.2	-	5	1713	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	434	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGCAGCTGCACGGGGCGCCCT	0.577000													12	23					0	0	0.001855	0	0	
CREBBP	1387	broad.mit.edu	37	16	3779597	3779597	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:3779597C>T	uc002cvv.2	-	31	5655	c.5451G>A	c.(5449-5451)CCG>CCA	p.P1817P	CREBBP_uc002cvw.2_Silent_p.P1779P	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1817	TAZ-type 2.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTTGCACACCGGGCAGCCCC	0.602000			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				39	142					0	0	0.007835	0	0	
ZNF500	26048	broad.mit.edu	37	16	4802675	4802675	+	Missense_Mutation	SNP	G	A	A	rs143815276		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:4802675G>A	uc002cxp.1	-	6	1392	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	ZNF500_uc002cxo.1_Missense_Mutation_p.P174L|ZNF500_uc010uxt.1_Missense_Mutation_p.P382L	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	382	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CTCGGGGCACGGGTAGGGCTT	0.657000													12	27					0	0	0.013537	0	0	
ARHGAP17	55114	broad.mit.edu	37	16	24942343	24942343	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:24942343C>T	uc002dnb.2	-	19	2370	c.2277G>A	c.(2275-2277)ACG>ACA	p.T759T	ARHGAP17_uc002dmx.2_Silent_p.T21T|ARHGAP17_uc002dmw.2_Silent_p.T21T|ARHGAP17_uc002dmy.2_Silent_p.T204T|ARHGAP17_uc002dmz.2_Silent_p.T283T|ARHGAP17_uc002dna.2_Silent_p.T486T|ARHGAP17_uc002dnc.2_Silent_p.T681T|ARHGAP17_uc010vcf.1_Silent_p.T502T|ARHGAP17_uc002dne.1_Silent_p.T21T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	759	SH3-binding (Potential).|Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TACTGGGGGGCGTTGGAGTCT	0.607000													52	146					0	0	0.014410	0	0	
CCDC101	112869	broad.mit.edu	37	16	28602110	28602110	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:28602110C>T	uc002dqf.2	+	9	804	c.619C>T	c.(619-621)CGG>TGG	p.R207W	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	207	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(1)	1						CACCCTGAGCCGGCGCCGTGT	0.652000													42	47					0	0	0.008740	0	0	
ITGAD	3681	broad.mit.edu	37	16	31435274	31435274	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:31435274C>T	uc002ebv.1	+	27	3203	c.3154C>T	c.(3154-3156)CGC>TGC	p.R1052C	ITGAD_uc010cap.1_Missense_Mutation_p.R1053C	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	1052	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CGGCTGGGTCCGCGAGGTGTG	0.642000													8	29					0	0	0.003080	0	0	
CDH16	1014	broad.mit.edu	37	16	66946243	66946243	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:66946243G>A	uc002eql.2	-	12	1523	c.1450C>T	c.(1450-1452)CGC>TGC	p.R484C	CDH16_uc010cdy.2_Missense_Mutation_p.R484C|CDH16_uc002eqm.2_Missense_Mutation_p.R387C	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	484	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCCATGAGGCGGAAGGCGGGC	0.572000													18	117					0	0	0.004990	0	0	
PLEKHG4	25894	broad.mit.edu	37	16	67321045	67321045	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:67321045C>T	uc002eso.3	+	17	5603	c.3068C>T	c.(3067-3069)TCC>TTC	p.S1023F	PLEKHG4_uc002esp.3_Missense_Mutation_p.S830F|PLEKHG4_uc002esq.3_Missense_Mutation_p.S1023F|PLEKHG4_uc010cef.2_Missense_Mutation_p.S1023F|PLEKHG4_uc002ess.3_Missense_Mutation_p.S1023F|PLEKHG4_uc010ceg.2_Missense_Mutation_p.S942F	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1023	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTGACATCTCCCACCTGCTT	0.622000													16	51					0	0	0.007413	0	0	
Unknown	0	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	C	C	rs149244259	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:70268080T>C	uc010cfp.1	-	3		c.335A>G								Homo sapiens cDNA, FLJ98908.																		GTCTTACTGTTGGCTAAAAGG	0.373000													3	10					0	0	0.009096	0	0	
FAM92B	339145	broad.mit.edu	37	16	85143910	85143910	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:85143910G>A	uc010vok.1	-	2	333	c.177C>T	c.(175-177)TCC>TCT	p.S59S		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	59										central_nervous_system(1)	1						CGGGGTTCTCGGAGTTGGCAA	0.677000													25	74					0	0	0.006320	0	0	
ZC3H18	124245	broad.mit.edu	37	16	88643772	88643772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:88643772C>T	uc002fky.2	+	2	441	c.241C>T	c.(241-243)CAG>TAG	p.Q81*	ZC3H18_uc010voy.1_Nonsense_Mutation_p.Q81*|ZC3H18_uc010voz.1_Nonsense_Mutation_p.Q81*|ZC3H18_uc010vpa.1_Nonsense_Mutation_p.Q81*	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	81						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATCCCAAGACCAGGACTCAGA	0.627000													12	23					0	0	0.013537	0	0	
TSR1	55720	broad.mit.edu	37	17	2236864	2236864	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:2236864C>T	uc002fuj.2	-	6	2085	c.1128G>A	c.(1126-1128)CTG>CTA	p.L376L		NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	376					ribosome assembly	nucleolus	protein binding			ovary(1)	1						TTGCCTCGCTCAGCTCCTCCT	0.493000													27	101					0	0	0.009535	0	0	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	T	T	rs28934578		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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)			54	9					0	0	0.014410	0	0	
TAOK1	57551	broad.mit.edu	37	17	27807468	27807468	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:27807468C>A	uc002hdz.1	+	7	726	c.532C>A	c.(532-534)CCT>ACT	p.P178T	TAOK1_uc010wbe.1_Missense_Mutation_p.P178T|TAOK1_uc010wbf.1_Missense_Mutation_p.P178T|TAOK1_uc002heb.1_Missense_Mutation_p.P4T	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	178	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			CATGGCATCACCTGCCAATTC	0.418000													22	28					1.64293e-13	1.90234e-13	0.003330	1	0	
MRM1	79922	broad.mit.edu	37	17	34958585	34958585	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:34958585C>T	uc002hne.2	+	1	561	c.346C>T	c.(346-348)CAC>TAC	p.H116Y	MRM1_uc002hnf.2_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	116					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTACCAGGTCCACCAGGGTGT	0.697000													7	72					0	0	0.003080	0	0	
SRCIN1	80725	broad.mit.edu	37	17	36708247	36708247	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36708247G>T	uc002hqd.2	-	14	2827	c.2602C>A	c.(2602-2604)CCG>ACG	p.P868T	SRCIN1_uc002hqf.1_Missense_Mutation_p.P740T|SRCIN1_uc002hqe.2_Missense_Mutation_p.P722T|SRCIN1_uc002hqg.2_Missense_Mutation_p.P174T	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	740					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						AGGTTCAGCGGGGGGCTGGGG	0.617000													16	616					1.33834e-09	1.5177e-09	0.007413	1	0	
SRCIN1	80725	broad.mit.edu	37	17	36719105	36719105	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36719105G>A	uc002hqd.2	-	6	1017	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	SRCIN1_uc002hqf.1_Silent_p.Y136Y|SRCIN1_uc002hqe.2_Silent_p.Y118Y|SRCIN1_uc002hqh.1_Silent_p.Y324Y	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	136					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGAAGGCAGCGTAGAGGGGCT	0.642000													8	256					0	0	0.006214	0	0	
MLLT6	4302	broad.mit.edu	37	17	36874191	36874191	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36874191G>C	uc002hqi.3	+	12	1940	c.1927G>C	c.(1927-1929)GAG>CAG	p.E643Q	MLLT6_uc002hqj.2_Missense_Mutation_p.E78Q|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	643					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CTCCCAAGCTGAGAGCAGCCA	0.542000			T	MLL	AL								32	809					0	0	0.004289	0	0	
PCGF2	7703	broad.mit.edu	37	17	36896639	36896639	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36896639C>T	uc002hqp.1	-	3	260	c.17G>A	c.(16-18)CGG>CAG	p.R6Q	PCGF2_uc002hqn.1_Missense_Mutation_p.R6Q|PCGF2_uc002hqo.1_Missense_Mutation_p.R6Q|PCGF2_uc010cvo.1_Intron|PCGF2_uc002hqq.1_Missense_Mutation_p.R6Q	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	6					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GATTTTGATCCGTGTAGTCCG	0.562000													14	616					0	0	0.006122	0	0	
CA4	762	broad.mit.edu	37	17	58235657	58235657	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:58235657G>A	uc002iym.3	+	7	688	c.594G>A	c.(592-594)ACG>ACA	p.T198T	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	198					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGAGCACTACGATGGCAGAGA	0.602000													20	32					0	0	0.008871	0	0	
KCNH6	81033	broad.mit.edu	37	17	61613084	61613084	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:61613084G>A	uc002jay.2	+	6	1236	c.1156G>A	c.(1156-1158)GTA>ATA	p.V386I	KCNH6_uc002jax.1_Missense_Mutation_p.V386I|KCNH6_uc010wpl.1_Missense_Mutation_p.V263I|KCNH6_uc010wpm.1_Missense_Mutation_p.V386I|KCNH6_uc002jaz.1_Missense_Mutation_p.V386I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	386	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GCTGGTGCGCGTAGCACGGAA	0.617000													29	42					0	0	0.007291	0	0	
GH2	2689	broad.mit.edu	37	17	61958860	61958860	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:61958860G>A	uc002jco.1	-	2	92	c.30C>T	c.(28-30)CTC>CTT	p.L10L	GH2_uc002jcj.2_Silent_p.L10L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.L10L|GH2_uc002jcm.1_Silent_p.L10L|GH2_uc002jcn.1_Silent_p.L10L	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	10						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						CAAAAGCCAGGAGCAGGGACG	0.607000													50	140					0	0	0.014410	0	0	
SMURF2	64750	broad.mit.edu	37	17	62589599	62589599	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:62589599C>T	uc002jep.1	-	4	681	c.293G>A	c.(292-294)CGT>CAT	p.R98H	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	98	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGAAAGAAGACGAACACAACC	0.343000													5	99					0	0	0.000602	0	0	
EXOC7	23265	broad.mit.edu	37	17	74080608	74080608	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:74080608G>A	uc002jqs.2	-	17	2014	c.1919C>T	c.(1918-1920)CCG>CTG	p.P640L	EXOC7_uc002jqp.1_Missense_Mutation_p.P26L|EXOC7_uc010dgv.1_Missense_Mutation_p.P514L|EXOC7_uc002jqq.2_Missense_Mutation_p.P589L|EXOC7_uc010wsw.1_Missense_Mutation_p.P612L|EXOC7_uc010wsx.1_Missense_Mutation_p.P581L|EXOC7_uc002jqr.2_Missense_Mutation_p.P558L|EXOC7_uc010wsv.1_Missense_Mutation_p.P561L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	640					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTGACTCCCGGCTGGAACAC	0.542000													12	66					0	0	0.001855	0	0	
TCEB3C	162699	broad.mit.edu	37	18	44554665	44554665	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:44554665C>T	uc010xdb.1	-	1	1785	c.1549G>A	c.(1549-1551)GCG>ACG	p.A517T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						GTTTTGTccgcgggcgccgcg	0.368000													10	402					0	0	0.014323	0	0	
MAPK4	5596	broad.mit.edu	37	18	48255791	48255791	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48255791G>A	uc002lev.2	+	6	2331	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	MAPK4_uc010xdm.1_Missense_Mutation_p.R233H|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	444					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCTGTGGCGCGACAACAAG	0.697000													5	0					0	0	0.000602	0	0	
SMAD4	4089	broad.mit.edu	37	18	48604674	48604674	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48604674G>A	uc010xdp.1	+	12	2034	c.1496G>A	c.(1495-1497)TGC>TAC	p.C499Y	SMAD4_uc002lfb.3_Missense_Mutation_p.C344Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	499	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.C499Y(2)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGTCGCTTATGCATACTCAGG	0.478000									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				15	49					0	0	0.007413	0	0	
SERPINB4	6318	broad.mit.edu	37	18	61309051	61309051	+	Silent	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:61309051T>C	uc002ljf.2	-	4	380	c.294A>G	c.(292-294)GCA>GCG	p.A98A	SERPINB4_uc002lje.2_Silent_p.A98A|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	98					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TCAGCTCATATGCATCAGTGG	0.398000													16	75					0	0	0.006122	0	0	
SFRS14	10147	broad.mit.edu	37	19	19141867	19141867	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:19141867C>T	uc002nkx.2	-	2	160	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	SFRS14_uc002nkz.1_Missense_Mutation_p.R19Q|SFRS14_uc002nla.1_Missense_Mutation_p.R5Q|SFRS14_uc002nlb.2_Missense_Mutation_p.R5Q|SFRS14_uc010xqk.1_5'UTR|ARMC6_uc002nlc.2_5'Flank|ARMC6_uc002nld.2_5'Flank|ARMC6_uc010xql.1_5'Flank|ARMC6_uc002nle.2_5'Flank	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	5					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CTGTGTAATTCGTCTGGCTGC	0.338000													56	152					0	0	0.014410	0	0	
RPSAP58	388524	broad.mit.edu	37	19	24010155	24010155	+	Silent	SNP	T	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:24010155T>A	uc002nrn.2	+	4	615	c.192T>A	c.(190-192)GCT>GCA	p.A64A		NM_002295	NP_002286			ribosomal protein SA												0						CAGCTCGTGCTATTGTTGCCA	0.473000													4	46					0	0	0.001984	0	0	
RPSAP58	388524	broad.mit.edu	37	19	24010482	24010482	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:24010482G>A	uc002nrn.2	+	4	942	c.519G>A	c.(517-519)TTG>TTA	p.L173L		NM_002295	NP_002286			ribosomal protein SA												0						CAGTGGGTTTGATGTGGTGGA	0.522000													5	48					0	0	0.013537	0	0	
ZC3H4	23211	broad.mit.edu	37	19	47569645	47569645	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:47569645A>G	uc002pga.3	-	15	3918	c.3880T>C	c.(3880-3882)TTC>CTC	p.F1294L	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1294							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGGGGTCGAAGCCTTTAAAA	0.627000													6	18					0	0	0.003080	0	0	
C19orf41	126123	broad.mit.edu	37	19	50666388	50666388	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:50666388G>A	uc002prp.1	-	1	151	c.64C>T	c.(64-66)CTG>TTG	p.L22L		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	22	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		TCGCACTGCAGGCAGCCCCAG	0.706000													8	7					0	0	0.003080	0	0	
CEACAM18	729767	broad.mit.edu	37	19	51981863	51981863	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:51981863G>A	uc002pwv.1	+	2	150	c.150G>A	c.(148-150)GAG>GAA	p.E50E		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	50						integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTCTCTGGAGGGACCCCTCC	0.627000													8	18					0	0	0.004482	0	0	
MIR522	574495	broad.mit.edu	37	19	54254543	54254543	+	RNA	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:54254543G>A	hsa-mir-522|MI0003177	+			c.79G>A			MIR519A1_hsa-mir-519a-1|MI0003178_5'Flank|MIR527_hsa-mir-527|MI0003179_5'Flank																	0						AGAGTGTTACGCTTTGAGAAA	0.408000													45	52					0	0	0.010771	0	0	
ZNF547	284306	broad.mit.edu	37	19	57889486	57889486	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:57889486G>A	uc002qol.2	+	4	1335	c.1142G>A	c.(1141-1143)AGT>AAT	p.S381N	ZNF547_uc002qpm.3_Intron|ZNF547_uc010ygx.1_Intron	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	381	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCAGTGCAGTGAATGTGGG	0.463000													21	35					0	0	0.008871	0	0	
PXDN	7837	broad.mit.edu	37	2	1670014	1670014	+	Silent	SNP	G	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:1670014G>C	uc002qxa.2	-	10	1327	c.1263C>G	c.(1261-1263)GTC>GTG	p.V421V	PXDN_uc002qxb.1_Silent_p.V421V|PXDN_uc002qxc.1_Silent_p.V238V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	421	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGTGGCATGGACGCTGTCAA	0.597000													4	42					0	0	0.009096	0	0	
KIDINS220	57498	broad.mit.edu	37	2	8870881	8870881	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:8870881C>G	uc002qzc.2	-	30	5467	c.5285G>C	c.(5284-5286)GGC>GCC	p.G1762A	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.G1663A|KIDINS220_uc002qzb.2_Missense_Mutation_p.G616A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1762	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCCAAAGCCTGTGCTCTC	0.438000													25	75					0	0	0.005443	0	0	
APOB	338	broad.mit.edu	37	2	21230333	21230333	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:21230333C>T	uc002red.2	-	26	9535	c.9407G>A	c.(9406-9408)CGT>CAT	p.R3136H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAAGGTAGACGCATTTCAGG	0.373000													14	136					0	0	0.003163	0	0	
CAD	790	broad.mit.edu	37	2	27454962	27454962	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:27454962C>T	uc002rji.2	+	17	2677	c.2515C>T	c.(2515-2517)CGA>TGA	p.R839*	CAD_uc010eyw.2_Nonsense_Mutation_p.R776*	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	839	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTTCCTGCACCGAATGAAGCG	0.552000													60	78					0	0	0.014410	0	0	
C2orf16	84226	broad.mit.edu	37	2	27801051	27801051	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:27801051G>A	uc002rkz.3	+	1	1663	c.1612G>A	c.(1612-1614)GAA>AAA	p.E538K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	538										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					TCAAATGGTAGAATATATTGA	0.408000													11	64					0	0	0.013537	0	0	
MYADML	151325	broad.mit.edu	37	2	33952443	33952443	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:33952443C>T	uc002rpb.2	-	1	842	c.400G>A	c.(400-402)GCC>ACC	p.A134T		NR_003143				RecName: Full=Myeloid-associated differentiation marker-like protein.;												0						AAGCAGAGGGCGTACACCGCC	0.637000													4	6					0	0	0.001984	0	0	
CCDC88A	55704	broad.mit.edu	37	2	55544720	55544720	+	Silent	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:55544720T>C	uc002ryv.2	-	20	4421	c.3579A>G	c.(3577-3579)GAA>GAG	p.E1193E	CCDC88A_uc010yoz.1_Silent_p.E1194E|CCDC88A_uc010ypa.1_Silent_p.E1193E|CCDC88A_uc002ryu.2_Silent_p.E476E|CCDC88A_uc002rys.2_Silent_p.E179E|CCDC88A_uc002ryw.2_Silent_p.E477E|CCDC88A_uc010fby.1_Silent_p.E73E	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1194	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GGTCTCTATGTTCCACCTCAA	0.313000													3	128					0	0	0.009096	0	0	
MEIS1	4211	broad.mit.edu	37	2	66670035	66670035	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:66670035T>C	uc002sdu.2	+	6	942	c.485T>C	c.(484-486)GTA>GCA	p.V162A	MEIS1_uc002sdt.2_Missense_Mutation_p.V162A|MEIS1_uc002sdv.2_Missense_Mutation_p.V160A|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.V97A|MEIS1_uc002sdw.1_Missense_Mutation_p.V18A	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	162							sequence-specific DNA binding transcription factor activity				0						ATAATGTAGGTACACGAATTA	0.383000													7	422					0	0	0.001984	0	0	
TTN	7273	broad.mit.edu	37	2	179648873	179648873	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:179648873T>C	uc010zfg.1	-	16	2923	c.2699A>G	c.(2698-2700)AAG>AGG	p.K900R	TTN_uc010zfh.1_Missense_Mutation_p.K854R|TTN_uc010zfi.1_Missense_Mutation_p.K854R|TTN_uc010zfj.1_Missense_Mutation_p.K854R|TTN_uc002unb.2_Missense_Mutation_p.K900R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	900							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)			CCCTACTTCCTTTTTCACCTC	0.547000													3	128					0	0	0.004672	0	0	
HIBCH	26275	broad.mit.edu	37	2	191161620	191161620	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:191161620C>T	uc002uru.2	-	3	221	c.138G>A	c.(136-138)ACG>ACA	p.T46T	HIBCH_uc002urv.2_Silent_p.T46T	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform	46					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTATGACTCCCGTGCAACCTT	0.358000													9	50					0	0	0.004482	0	0	
CTLA4	1493	broad.mit.edu	37	2	204735610	204735610	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:204735610G>A	uc002vak.1	+	2	568	c.411G>A	c.(409-411)CCG>CCA	p.P137P	CTLA4_uc002val.1_Silent_p.P137P|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	137	Ig-like V-type.|Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)	TGTACCCACCGCCATACTACC	0.512000													26	25					0	0	0.004656	0	0	
CD93	22918	broad.mit.edu	37	20	23066171	23066171	+	Missense_Mutation	SNP	G	A	A	rs138932459		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:23066171G>A	uc002wsv.2	-	1	807	c.659C>T	c.(658-660)GCG>GTG	p.A220V		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	220	Extracellular (Potential).		A -> V (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.A220V(1)		large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACATTGGCCGCAGAGGCAAA	0.617000													17	108					0	0	0.004990	0	0	
PLUNC	51297	broad.mit.edu	37	20	31828172	31828172	+	Missense_Mutation	SNP	C	A	A	rs115425643	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:31828172C>A	uc002wyv.2	+	5	632	c.562C>A	c.(562-564)CAA>AAA	p.Q188K	PLUNC_uc002wyt.3_Missense_Mutation_p.Q188K|PLUNC_uc002wyu.3_Missense_Mutation_p.Q188K	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	188					innate immune response	extracellular region	lipid binding				0						TGGAAGCCTGCAAATTTCTCT	0.522000													30	297					8.4185e-14	9.79932e-14	0.012213	1	0	
ZNF341	84905	broad.mit.edu	37	20	32341059	32341059	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:32341059C>T	uc002wzy.2	+	5	591	c.571C>T	c.(571-573)CCG>TCG	p.P191S	ZNF341_uc002wzx.2_Missense_Mutation_p.P191S|ZNF341_uc010geq.2_Missense_Mutation_p.P101S|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						actgcccccaccgccaccacc	0.388000													31	51					0	0	0.010818	0	0	
LBP	3929	broad.mit.edu	37	20	36975024	36975024	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:36975024C>T	uc002xic.1	+	1	140	c.105C>T	c.(103-105)ACC>ACT	p.T35T		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	35					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				CCAGGATCACCGACAAGGGAC	0.632000													10	98					0	0	0.010729	0	0	
TOP1	7150	broad.mit.edu	37	20	39728846	39728846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:39728846C>T	uc002xjl.2	+	12	1372	c.1126C>T	c.(1126-1128)CGA>TGA	p.R376*	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	376					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCTGAAGAGACGAATCATGCC	0.502000			T	NUP98	AML*								23	76					0	0	0.003330	0	0	
NCRNA00176	284739	broad.mit.edu	37	20	62670389	62670389	+	RNA	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:62670389G>T	uc002yhq.2	+	4		c.4338G>T			NCRNA00176_uc011abq.1_RNA|NCRNA00176_uc010gko.2_RNA	NR_027686				Homo sapiens cDNA FLJ27267 fis, clone TMS00367.												0						GCCTAGGACCGCCCCGGGATC	0.741000													3	14					0.00024832	0.000274525	0.009096	1	0	
PSMG1	8624	broad.mit.edu	37	21	40555269	40555269	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr21:40555269G>C	uc002yxi.2	-	1	172	c.43C>G	c.(43-45)CGA>GGA	p.R15G	PSMG1_uc002yxj.2_Missense_Mutation_p.R15G|PSMG1_uc010gob.2_5'UTR	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	15					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				GTCCCAGCTCGGCACGGCGCC	0.582000													4	5					0	0	0.000602	0	0	
CCDC116	164592	broad.mit.edu	37	22	21988517	21988517	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr22:21988517G>A	uc002zve.2	+	3	372	c.279G>A	c.(277-279)GCG>GCA	p.A93A	CCDC116_uc011aih.1_Silent_p.A93A	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93	Potential.									ovary(1)|skin(1)	2	Colorectal(54;0.105)					TGGAGAAGGCGACTGAGCGCA	0.622000													30	76					0	0	0.013726	0	0	
MN1	4330	broad.mit.edu	37	22	28193748	28193748	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr22:28193748C>T	uc003adj.2	-	1	3739	c.2784G>A	c.(2782-2784)TCG>TCA	p.S928S		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	928							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGTCATTCCCCGACGTGGATT	0.677000			T	ETV6	AML|meningioma								7	11					0	0	0.003080	0	0	
SREBF2	6721	broad.mit.edu	37	22	42271599	42271599	+	Silent	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr22:42271599G>T	uc003bbi.2	+	7	1426	c.1257G>T	c.(1255-1257)CTG>CTT	p.L419L	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	419	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AGGTGGACCTGAAGATCGAGG	0.517000													67	235					2.26907e-38	2.71302e-38	0.014410	1	0	
ITPR1	3708	broad.mit.edu	37	3	4699844	4699844	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:4699844C>T	uc003bqa.2	+	13	1381	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	ITPR1_uc010hca.1_Missense_Mutation_p.R330W|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R330W	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	345	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAGTAGGTTGCGGAATGCCCA	0.498000													46	59					0	0	0.014410	0	0	
THRB	7068	broad.mit.edu	37	3	24185037	24185037	+	Silent	SNP	C	T	T	rs115360190	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:24185037C>T	uc003ccx.3	-	8	1042	c.693G>A	c.(691-693)GCG>GCA	p.A231A	THRB_uc010hfe.2_Silent_p.A231A|THRB_uc003ccy.3_Silent_p.A231A|THRB_uc003ccz.3_Silent_p.A226A	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	231					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGGCGTTGGTCGCCACATGGG	0.483000													44	139					0	0	0.014410	0	0	
GOLGA4	2803	broad.mit.edu	37	3	37368302	37368302	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:37368302G>T	uc003cgv.2	+	14	5229	c.4925G>T	c.(4924-4926)AGA>ATA	p.R1642I	GOLGA4_uc010hgr.1_Missense_Mutation_p.R1203I|GOLGA4_uc003cgw.2_Missense_Mutation_p.R1664I|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.R1523I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1642	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GAGTTGAAGAGAAAAGCTGAA	0.363000													11	95					9.70103e-10	1.10582e-09	0.008291	1	0	
TRAK1	22906	broad.mit.edu	37	3	42264549	42264549	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:42264549C>T	uc003cky.2	+	16	2398	c.2182C>T	c.(2182-2184)CGT>TGT	p.R728C	TRAK1_uc011azi.1_Missense_Mutation_p.R707C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	728					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CACTAACACCCGTGAGTCCAC	0.612000													26	44					0	0	0.005443	0	0	
BSN	8927	broad.mit.edu	37	3	49691693	49691693	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:49691693G>A	uc003cxe.3	+	5	4818	c.4704G>A	c.(4702-4704)CAG>CAA	p.Q1568Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1568					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCCAGCCAGACCAGGATGG	0.607000													32	35					0	0	0.008361	0	0	
SEMA3F	6405	broad.mit.edu	37	3	50220987	50220987	+	Missense_Mutation	SNP	G	A	A	rs137935899		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:50220987G>A	uc003cyj.2	+	12	1421	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R377Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	408	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCTACCCACGGCCGGGCACG	0.582000													17	72					0	0	0.010504	0	0	
PHLDB2	90102	broad.mit.edu	37	3	111603367	111603367	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:111603367A>G	uc010hqa.2	+	2	854	c.443A>G	c.(442-444)TAT>TGT	p.Y148C	PHLDB2_uc003dyc.2_Missense_Mutation_p.Y175C|PHLDB2_uc003dyd.2_Missense_Mutation_p.Y148C|PHLDB2_uc003dyg.2_Missense_Mutation_p.Y148C|PHLDB2_uc003dyh.2_Missense_Mutation_p.Y148C|PHLDB2_uc003dye.3_Missense_Mutation_p.Y148C|PHLDB2_uc003dyf.3_Missense_Mutation_p.Y148C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	148						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AAGCCTCCCTATTCCAAATAT	0.507000													60	130					0	0	0.014410	0	0	
MED12L	116931	broad.mit.edu	37	3	151073819	151073819	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:151073819G>A	uc003eyp.2	+	17	2586	c.2548G>A	c.(2548-2550)GCA>ACA	p.A850T	MED12L_uc011bnz.1_Missense_Mutation_p.A710T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A14T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	850					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGACTTCGCAATACAGGT	0.403000													20	54					0	0	0.014323	0	0	
BCHE	590	broad.mit.edu	37	3	165503997	165503997	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:165503997C>T	uc003fem.3	-	3	1780	c.1620G>A	c.(1618-1620)ACG>ACA	p.T540T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	540					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CACGTAGTTTCGTCATTATTC	0.358000													23	45					0	0	0.014323	0	0	
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	66					0	0	0.003163	0	0	
HTR3E	285242	broad.mit.edu	37	3	183823112	183823112	+	Missense_Mutation	SNP	G	A	A	rs145547998	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:183823112G>A	uc010hxq.2	+	6	1083	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	HTR3E_uc003fml.3_Missense_Mutation_p.R191Q|HTR3E_uc003fmm.2_Missense_Mutation_p.R221Q|HTR3E_uc010hxr.2_Missense_Mutation_p.R232Q|HTR3E_uc003fmn.2_Missense_Mutation_p.R206Q	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	206	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GACGCATCCCGGAACATCCTT	0.493000													20	38					0	0	0.008871	0	0	
EIF4G1	1981	broad.mit.edu	37	3	184041232	184041232	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:184041232C>T	uc003fnp.2	+	15	2323	c.2125C>T	c.(2125-2127)CGA>TGA	p.R709*	EIF4G1_uc003fno.1_Nonsense_Mutation_p.R650*|EIF4G1_uc010hxw.1_Nonsense_Mutation_p.R545*|EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R420*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R622*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R545*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R716*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R669*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R716*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R710*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R709*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R716*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R514*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R513*|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	709	eIF3/EIF4A-binding.|MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGGACCCCGAAAAGAACC	0.532000													95	277					0	0	0.014410	0	0	
FGF12	2257	broad.mit.edu	37	3	191861866	191861866	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:191861866G>A	uc003fsx.2	-	5	1490	c.664C>T	c.(664-666)CGT>TGT	p.R222C	FGF12_uc003fsy.2_Missense_Mutation_p.R160C	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	222					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCCTTGAACGCCCTTGTTTT	0.328000													73	144					0	0	0.014410	0	0	
RASA1	5921	broad.mit.edu	37	5	86672329	86672329	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:86672329C>T	uc003kiw.2	+	16	2249	c.2131C>T	c.(2131-2133)CGA>TGA	p.R711*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R534*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R544*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R545*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R533*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	711					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGTTCGAGCACGATACTCTAT	0.393000													5	27					0	0	0.000602	0	0	
P4HA2	8974	broad.mit.edu	37	5	131530693	131530693	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:131530693T>C	uc003kwh.2	-	14	2027	c.1463A>G	c.(1462-1464)AAC>AGC	p.N488S	P4HA2_uc003kwg.2_Missense_Mutation_p.N486S|P4HA2_uc003kwi.2_Missense_Mutation_p.N486S|P4HA2_uc003kwk.2_Missense_Mutation_p.N486S|P4HA2_uc003kwl.2_Missense_Mutation_p.N488S|P4HA2_uc003kwj.2_Missense_Mutation_p.N486S	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	488	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|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-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CCGCAAGAGGTTGTACCAGAA	0.537000													5	47					0	0	0.001168	0	0	
PCDHA4	56144	broad.mit.edu	37	5	140188676	140188676	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:140188676G>A	uc003lhi.2	+	1	2005	c.1904G>A	c.(1903-1905)CGT>CAT	p.R635H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635H|PCDHA4_uc011daa.1_Missense_Mutation_p.R635H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAACGCGTGCCCTGGAC	0.682000													46	42					0	0	0.014410	0	0	
PCDHA6	56142	broad.mit.edu	37	5	140207964	140207964	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:140207964C>T	uc003lho.2	+	1	315	c.288C>T	c.(286-288)TGC>TGT	p.C96C	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_Silent_p.C96C|PCDHA6_uc011dab.1_Silent_p.C96C	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	96	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCGGGCGGAGCG	0.572000													129	86					0	0	0.014410	0	0	
PCDHGA6	56109	broad.mit.edu	37	5	140755558	140755558	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:140755558C>T	uc003ljy.1	+	1	1908	c.1908C>T	c.(1906-1908)GAC>GAT	p.D636D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D636D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	636	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACGCGCTCAAGC	0.701000													9	77					0	0	0.004482	0	0	
FAT2	2196	broad.mit.edu	37	5	150907625	150907625	+	Missense_Mutation	SNP	G	T	T	rs145145475	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:150907625G>T	uc003lue.3	-	15	10109	c.10096C>A	c.(10096-10098)CTT>ATT	p.L3366I	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L59I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3366	Cadherin 30.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGCCCAAGCTGGTTCCCT	0.567000													62	26					6.66387e-47	8.01121e-47	0.014410	1	0	
GRIA1	2890	broad.mit.edu	37	5	153190663	153190663	+	Missense_Mutation	SNP	G	T	T	rs139474308		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:153190663G>T	uc003lva.3	+	16	2964	c.2599G>T	c.(2599-2601)GCC>TCC	p.A867S	GRIA1_uc003luy.3_Missense_Mutation_p.A867S|GRIA1_uc003luz.3_Missense_Mutation_p.A772S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A787S|GRIA1_uc011dcx.1_Missense_Mutation_p.A798S|GRIA1_uc011dcy.1_Missense_Mutation_p.A877S|GRIA1_uc011dcz.1_Missense_Mutation_p.A877S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	867	Cytoplasmic (Potential).			AGA -> TAP (in Ref. 1; AAA58613).	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.A867S(1)		ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGGGCAGGAGCCAGCAGCGG	0.582000													28	20					1.77063e-15	2.07202e-15	0.005443	1	0	
OR10C1	442194	broad.mit.edu	37	6	29408180	29408180	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:29408180C>T	uc011dlp.1	+	1	388	c.388C>T	c.(388-390)CGC>TGC	p.R130C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGAACCCCTCCGCTACCCACT	0.622000													26	73					0	0	0.003330	0	0	
C6orf81	221481	broad.mit.edu	37	6	35705852	35705852	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:35705852G>A	uc003ola.2	+	2	320	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Missense_Mutation_p.R71Q	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	71							binding			ovary(1)	1						GGTGAGCTCCGGAGGCTCCTC	0.577000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	103					0	0	0.014410	0	0	
UNC5CL	222643	broad.mit.edu	37	6	41001837	41001837	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:41001837G>C	uc003opi.2	-	3	558	c.469C>G	c.(469-471)CAG>GAG	p.Q157E	UNC5CL_uc010jxe.1_Missense_Mutation_p.Q157E	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	157	ZU5.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCAGCCCCTGGGCTTGGGAC	0.657000													19	164					0	0	0.014323	0	0	
GPR116	221395	broad.mit.edu	37	6	46823761	46823761	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:46823761G>A	uc003oyo.3	-	20	4200	c.3911C>T	c.(3910-3912)TCT>TTT	p.S1304F	GPR116_uc011dwj.1_Missense_Mutation_p.S859F|GPR116_uc011dwk.1_Missense_Mutation_p.S733F|GPR116_uc003oyp.3_Missense_Mutation_p.S1162F|GPR116_uc003oyq.3_Missense_Mutation_p.S1304F|GPR116_uc010jzi.1_Missense_Mutation_p.S956F	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1304	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			AGAACTCATAGAAAACACAGG	0.418000													14	64					0	0	0.004007	0	0	
CRISP3	10321	broad.mit.edu	37	6	49698923	49698923	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:49698923C>A	uc003ozs.2	-	7	578	c.563G>T	c.(562-564)GGA>GTA	p.G188V		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	188					innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACAAGGTGCTCCTTGTTCATA	0.318000													54	77					2.23399e-28	2.64236e-28	0.014410	1	0	
TTK	7272	broad.mit.edu	37	6	80751871	80751871	+	Silent	SNP	T	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:80751871T>C	uc003pjc.2	+	22	2600	c.2526T>C	c.(2524-2526)CAT>CAC	p.H842H	TTK_uc003pjb.3_Silent_p.H841H	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	842					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GTGAAAGTCATAATTCTTCAT	0.294000													25	90					0	0	0.007291	0	0	
MCHR2	84539	broad.mit.edu	37	6	100390958	100390958	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:100390958G>A	uc003pqh.1	-	4	769	c.454C>T	c.(454-456)CGG>TGG	p.R152W	MCHR2_uc003pqi.1_Missense_Mutation_p.R152W	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152	Cytoplasmic (Potential).		R -> Q (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473000													15	209					0	0	0.007413	0	0	
CLVS2	134829	broad.mit.edu	37	6	123332153	123332153	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:123332153G>A	uc003pzi.1	+	3	1282	c.413G>A	c.(412-414)CGT>CAT	p.R138H		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	138	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GATATTTTGCGTGCCATCTTA	0.378000													5	178					0	0	0.001984	0	0	
SYNE1	23345	broad.mit.edu	37	6	152651740	152651740	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:152651740A>T	uc010kiw.2	-	78	14682	c.14080T>A	c.(14080-14082)TTC>ATC	p.F4694I	SYNE1_uc003qot.3_Missense_Mutation_p.F4623I|SYNE1_uc003qou.3_Missense_Mutation_p.F4694I|SYNE1_uc010kiz.2_Missense_Mutation_p.F449I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4694	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCTCAAGAATTGGGCTTCA	0.502000										HNSCC(10;0.0054)			10	51					0	0	0.006214	0	0	
ETV1	2115	broad.mit.edu	37	7	13971291	13971291	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:13971291C>T	uc011jxq.1	-	9	1377	c.638G>A	c.(637-639)CGC>CAC	p.R213H	ETV1_uc011jxn.1_Missense_Mutation_p.R173H|ETV1_uc011jxo.1_Missense_Mutation_p.R110H|ETV1_uc011jxp.1_Missense_Mutation_p.R155H|ETV1_uc003ssw.3_Missense_Mutation_p.R213H|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.R195H|ETV1_uc011jxs.1_Missense_Mutation_p.R195H|ETV1_uc010ktv.2_Missense_Mutation_p.R82H	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	213					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						AGACATCTGGCGTTGGTACAT	0.532000			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								17	50					0	0	0.004007	0	0	
TMEM195	392636	broad.mit.edu	37	7	15470727	15470727	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:15470727T>A	uc003stb.1	-	4	586	c.416A>T	c.(415-417)AAT>ATT	p.N139I		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	139					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CCACATAATATTAACTTCTGC	0.398000													8	64					0	0	0.004482	0	0	
DNAH11	8701	broad.mit.edu	37	7	21779199	21779199	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:21779199C>A	uc003svc.2	+	49	7874	c.7843C>A	c.(7843-7845)CAG>AAG	p.Q2615K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2615	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GTATGATAGACAGAAGGTGAT	0.373000									Kartagener_syndrome				41	53					3.68427e-32	4.38129e-32	0.010771	1	0	
KLHL7	55975	broad.mit.edu	37	7	23205329	23205329	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:23205329A>G	uc003svs.3	+	8	1242	c.949A>G	c.(949-951)ACA>GCA	p.T317A	KLHL7_uc003svr.3_Missense_Mutation_p.T295A|KLHL7_uc011jys.1_Missense_Mutation_p.T241A|KLHL7_uc011jyt.1_Missense_Mutation_p.T92A|KLHL7_uc003svt.2_Missense_Mutation_p.T269A|KLHL7_uc011jyv.1_Missense_Mutation_p.T92A	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	317	Kelch 1.					Golgi apparatus|nucleolus|plasma membrane					0						TTATAGCTGGACAGACATCCG	0.388000													16	57					0	0	0.008871	0	0	
PMS2L11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	T	T	rs61737188	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:76631555C>T	uc003ufw.3	+	4		c.696C>T			PMS2L11_uc011kgn.1_RNA	NR_023383				Homo sapiens cDNA FLJ59034 complete cds, moderately similar to Protein deltex-2.												0						GGCAATCGGGCCCCTGGCTGT	0.607000													4	43					0	0	0.000602	0	0	
SEMA3D	223117	broad.mit.edu	37	7	84629053	84629053	+	Silent	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:84629053C>A	uc003uic.2	-	17	2077	c.2037G>T	c.(2035-2037)CTG>CTT	p.L679L	SEMA3D_uc010led.2_Silent_p.L679L|SEMA3D_uc003uib.2_Silent_p.L318L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	679	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CATTCAAAGTCAGCTTCACTA	0.463000													10	89					9.70103e-10	1.10582e-09	0.008291	1	0	
ZAN	7455	broad.mit.edu	37	7	100350655	100350655	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:100350655T>G	uc003uwj.2	+	14	3092	c.2927T>G	c.(2926-2928)CTT>CGT	p.L976R	ZAN_uc003uwk.2_Missense_Mutation_p.L976R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	976	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTTACCATCCCC	0.552000													110	106					0	0	0.014410	0	0	
EPHB4	2050	broad.mit.edu	37	7	100417377	100417377	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:100417377C>T	uc003uwn.1	-	6	1590	c.1099G>A	c.(1099-1101)GGA>AGA	p.G367R	EPHB4_uc003uwm.1_Missense_Mutation_p.G274R|EPHB4_uc010lhj.1_Missense_Mutation_p.G367R|EPHB4_uc011kkf.1_Missense_Mutation_p.G367R|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.G367R	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	367	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGAGCCTCCGGGTCGGCAC	0.697000													8	15					0	0	0.003080	0	0	
DOCK4	9732	broad.mit.edu	37	7	111398842	111398842	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:111398842C>T	uc003vfx.2	-	40	4409	c.4140G>A	c.(4138-4140)TTG>TTA	p.L1380L	DOCK4_uc011kml.1_Silent_p.L261L|DOCK4_uc011kmm.1_Silent_p.L287L|DOCK4_uc003vfw.2_Silent_p.L830L|DOCK4_uc003vfy.2_Silent_p.L1425L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1380	DHR-2.			YLQ -> CIRTYKGWTQFGTAVITDVGRLGTQIITQIN (in Ref. 3; BAC05221).	cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CATATATCTGCAAATCTAGGA	0.478000													6	41					0	0	0.003080	0	0	
ZNF282	8427	broad.mit.edu	37	7	148921431	148921431	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:148921431G>A	uc003wfm.2	+	8	1813	c.1708G>A	c.(1708-1710)GGC>AGC	p.G570S	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	570					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACGCACCGCGGCGAGCGGCC	0.657000													18	16					0	0	0.004990	0	0	
FASTK	10922	broad.mit.edu	37	7	150775086	150775086	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:150775086C>T	uc003wix.1	-	5	1017	c.919G>A	c.(919-921)GAA>AAA	p.E307K	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.E68K|FASTK_uc003wiy.1_Missense_Mutation_p.E166K|FASTK_uc003wiz.1_Missense_Mutation_p.E280K|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	307					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		ACCCCTGCTTCCCGAGCCAGG	0.577000													38	64					0	0	0.006999	0	0	
PRKAG2	51422	broad.mit.edu	37	7	151254294	151254294	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:151254294G>A	uc003wkk.2	-	16	2314	c.1703C>T	c.(1702-1704)ACG>ATG	p.T568M	PRKAG2_uc003wki.2_Missense_Mutation_p.T327M|PRKAG2_uc011kvl.1_Missense_Mutation_p.T443M|PRKAG2_uc003wkj.2_Missense_Mutation_p.T524M|PRKAG2_uc003wkl.2_3'UTR	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	568					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGTCACTCCGTTTCTGTCTC	0.493000													179	183					0	0	0.014410	0	0	
Unknown	0	broad.mit.edu	37	8	26237332	26237332	+	RNA	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:26237332C>T	uc003xew.2	-	2		c.2617G>A								Homo sapiens cDNA clone IMAGE:4826633.																		CTGGTGCTGACGGCTGCAGTT	0.478000													27	56					0	0	0.003954	0	0	
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:62212794C>T	uc003xuh.2	+	2	732	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	CLVS1_uc003xug.2_Silent_p.Y136Y|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.Y136Y	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						GAGACCATTACGGCAGGAAGA	0.443000													39	49					0	0	0.008740	0	0	
MATN2	4147	broad.mit.edu	37	8	98973727	98973727	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:98973727C>T	uc003yic.2	+	5	1158	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y	MATN2_uc003yib.1_Silent_p.Y309Y|MATN2_uc010mbh.1_Silent_p.Y309Y|MATN2_uc003yid.2_Silent_p.Y309Y|MATN2_uc003yie.1_Silent_p.Y309Y|MATN2_uc010mbi.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	309	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACAGTGGCTACGCCCTGGCTG	0.582000													36	120					0	0	0.013726	0	0	
ZFPM2	23414	broad.mit.edu	37	8	106815221	106815221	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:106815221G>A	uc003ymd.2	+	8	2934	c.2911G>A	c.(2911-2913)GCA>ACA	p.A971T	ZFPM2_uc011lhs.1_Missense_Mutation_p.A702T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	971					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTACCCTGGAGCAATAAAGAA	0.408000													4	40					0	0	0.000602	0	0	
ZFPM2	23414	broad.mit.edu	37	8	106815238	106815238	+	Silent	SNP	A	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:106815238A>G	uc003ymd.2	+	8	2951	c.2928A>G	c.(2926-2928)AAA>AAG	p.K976K	ZFPM2_uc011lhs.1_Silent_p.K707K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	976					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCAAAAGGAGCCGACC	0.403000													4	43					0	0	0.000602	0	0	
ZFPM2	23414	broad.mit.edu	37	8	106815458	106815458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:106815458C>T	uc003ymd.2	+	8	3171	c.3148C>T	c.(3148-3150)CAA>TAA	p.Q1050*	ZFPM2_uc011lhs.1_Nonsense_Mutation_p.Q781*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1050					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGACTGAAACAAGATGAGAG	0.498000													5	64					0	0	0.000602	0	0	
MTBP	27085	broad.mit.edu	37	8	121530251	121530251	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:121530251G>C	uc003ypc.1	+	19	2452	c.2407G>C	c.(2407-2409)GCT>CCT	p.A803P		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	803	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCCAAAACTTGCTACAAAGAC	0.393000													16	108					0	0	0.003163	0	0	
FAM83H	286077	broad.mit.edu	37	8	144809765	144809765	+	Silent	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:144809765G>A	uc003yzk.2	-	5	1935	c.1866C>T	c.(1864-1866)GCC>GCT	p.A622A	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	622					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCAGGTCGCCGGCAGGTGCCC	0.756000													5	36					0	0	0.001984	0	0	
JAK2	3717	broad.mit.edu	37	9	5089674	5089674	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:5089674G>A	uc010mhm.2	+	19	2685	c.2572G>A	c.(2572-2574)GGT>AGT	p.G858S	JAK2_uc003ziw.2_Missense_Mutation_p.G858S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	858	Protein kinase 2.|ATP (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGTCATTTAGGGTAATTTTGG	0.383000		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				7	74					0	0	0.010729	0	0	
C9orf93	203238	broad.mit.edu	37	9	15846777	15846777	+	Silent	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:15846777G>T	uc003zmd.2	+	22	3660	c.3345G>T	c.(3343-3345)CTG>CTT	p.L1115L	C9orf93_uc003zme.2_Silent_p.L1030L|C9orf93_uc011lmu.1_Silent_p.L1123L|C9orf93_uc003zmf.1_Silent_p.L423L	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1115	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		TTACCCAGCTGGAGCAGGACA	0.512000													7	3					3.09899e-07	3.47845e-07	0.004482	1	0	
RFK	55312	broad.mit.edu	37	9	79002415	79002415	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:79002415A>G	uc004akd.2	-	4	725	c.389T>C	c.(388-390)ATT>ACT	p.I130T	RFK_uc004ake.2_3'UTR	NM_018339	NP_060809	Q969G6	RIFK_HUMAN	riboflavin kinase	123					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity				0					Riboflavin(DB00140)	AGCTTCTTCAATATCACCTTG	0.323000													34	89					0	0	0.003271	0	0	
TGFBR1	7046	broad.mit.edu	37	9	101904870	101904870	+	Silent	SNP	A	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:101904870A>T	uc004azc.2	+	5	934	c.858A>T	c.(856-858)GGA>GGT	p.G286G	TGFBR1_uc004azd.2_Silent_p.G209G|TGFBR1_uc011lvc.1_Silent_p.G217G	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	286	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				ATGAGCATGGATCCCTTTTTG	0.428000													26	77					0	0	0.006320	0	0	
CYLC2	1539	broad.mit.edu	37	9	105767016	105767016	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:105767016C>A	uc004bbs.2	+	4	290	c.220C>A	c.(220-222)CCA>ACA	p.P74T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				TCGTAGACAACCATTATGGAT	0.373000													3	34					0.004672	0.0051392	0.004672	1	0	
ZFP37	7539	broad.mit.edu	37	9	115818962	115818962	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:115818962C>T	uc004bgm.1	-	1	35	c.7G>A	c.(7-9)GTC>ATC	p.V3I	ZFP37_uc011lwz.1_Missense_Mutation_p.V3I|ZFP37_uc011lxa.1_Missense_Mutation_p.V3I	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	3						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCGCTGGAGACCGACATGGCG	0.662000													26	51					0	0	0.003954	0	0	
NR0B1	190	broad.mit.edu	37	X	30326860	30326860	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:30326860C>T	uc004dcf.3	-	1	636	c.621G>A	c.(619-621)CCG>CCA	p.P207P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	207	4; truncated.|4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGCCCTGCTGCGGGTGGTCTT	0.687000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	10					0	0	0.001168	0	0	
PIM2	11040	broad.mit.edu	37	X	48776164	48776164	+	Translation_Start_Site	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:48776164G>A	uc004dls.2	-	1	250	c.-52C>T	c.(-54--50)CACGC>CATGC			NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	serine/threonine protein kinase pim-2						anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						CCCGCAGGGCGTGGACGCCCG	0.731000													6	18					0	0	0.001168	0	0	
LAS1L	81887	broad.mit.edu	37	X	64754491	64754491	+	Silent	SNP	T	G	G			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:64754491T>G	uc004dwa.1	-	1	177	c.105A>C	c.(103-105)CCA>CCC	p.P35P	LAS1L_uc004dwc.1_Silent_p.P35P|LAS1L_uc004dwd.1_Silent_p.P35P	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	35						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GGGCCGAGAGTGGCAACGACC	0.617000													10	11					0	0	0.006214	0	0	
PCDH11X	27328	broad.mit.edu	37	X	91090711	91090711	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:91090711G>A	uc004efk.1	+	1	1053	c.208G>A	c.(208-210)GGA>AGA	p.G70R	PCDH11X_uc004efl.1_Missense_Mutation_p.G70R|PCDH11X_uc004efo.1_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.1_Missense_Mutation_p.G70R|PCDH11X_uc004efm.1_Missense_Mutation_p.G70R|PCDH11X_uc004efn.1_Missense_Mutation_p.G70R|PCDH11X_uc004efh.1_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	70	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GTACAAGACCGGAGATGTGCC	0.458000													73	128					0	0	0.014410	0	0	
XKRX	402415	broad.mit.edu	37	X	100178029	100178029	+	Silent	SNP	C	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:100178029C>T	uc004egn.2	-	2	962	c.357G>A	c.(355-357)AAG>AAA	p.K119K	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	119						integral to membrane|plasma membrane				breast(1)	1						GTGTGAGGTACTTAATCATGG	0.468000													21	136					0	0	0.008871	0	0	
KIAA1210	57481	broad.mit.edu	37	X	118223121	118223121	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:118223121G>T	uc004era.3	-	11	2072	c.2072C>A	c.(2071-2073)GCT>GAT	p.A691D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	691										ovary(4)|skin(1)	5						AAACACCTGAGCCTCTGCTGC	0.463000													19	56					1.01871e-10	1.17339e-10	0.008871	1	0	
KIF26A	26153	broad.mit.edu	37	14	104639830	104639831	+	In_Frame_Ins	INS	-	GAC	GAC			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:104639830_104639831insGAC	uc001yos.3	+	9	1847_1848	c.1847_1848insGAC	c.(1846-1848)GAG>GAGACG	p.616_617insT		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	616_617	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TACCGCATGGAGAAGTGCGGCC	0.688													8	15	---	---	---	---						.
ZFP1	162239	broad.mit.edu	37	16	75203864	75203865	+	Frame_Shift_Ins	INS	-	CACAG	CACAG			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:75203864_75203865insCACAG	uc002fdo.2	+	4	1020_1021	c.856_857insCACAG	c.(856-858)CACfs	p.H286fs	ZFP1_uc002fdp.2_Frame_Shift_Ins_p.H231fs|ZFP1_uc010cgt.2_Frame_Shift_Ins_p.H253fs|ZFP1_uc010cgs.2_Frame_Shift_Ins_p.H231fs|ZFP1_uc002fdq.2_Frame_Shift_Ins_p.H286fs	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	286	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTCACCACACACCAGAGAATT	0.421													23	34	---	---	---	---						.
SMAD4	4089	broad.mit.edu	37	18	48593481	48593482	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48593481_48593482insT	uc010xdp.1	+	10	1770_1771	c.1232_1233insT	c.(1231-1233)AGTfs	p.S411fs	SMAD4_uc002lfb.3_Frame_Shift_Ins_p.S256fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	411	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTTGTACAGAGTTACTACTTAG	0.426									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				24	29	---	---	---	---						.
SAFB2	9667	broad.mit.edu	37	19	5622607	5622621	+	In_Frame_Del	DEL	CGCCCGCAGATCGAT	-	-			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:5622607_5622621delCGCCCGCAGATCGAT	uc002mcd.2	-	1	318_332	c.106_120delATCGATCTGCGGGCG	c.(106-120)ATCGATCTGCGGGCGdel	p.IDLRA36del	SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_In_Frame_Del_p.IDLRA36del|SAFB2_uc010xip.1_RNA	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	36_40	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCTTCAGCTCCGCCCGCAGATCGATCACCCGCAGC	0.712													6	2	---	---	---	---						.
TRIO	7204	broad.mit.edu	37	5	14389501	14389503	+	In_Frame_Del	DEL	ATA	-	-			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:14389501_14389503delATA	uc003jff.2	+	25	4058_4060	c.4052_4054delATA	c.(4051-4056)CATAAT>CAT	p.N1353del	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_In_Frame_Del_p.N1304del|TRIO_uc003jfh.1_In_Frame_Del_p.N1002del	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1353	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TACGAATTTCATAATAAGTGAGT	0.399													4	9	---	---	---	---						.
