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
PRDM16	63976	broad.mit.edu	37	1	3328709	3328709	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:3328709G>A	uc001akf.2	+	9	2028	c.1948G>A	c.(1948-1950)GGG>AGG	p.G650R	PRDM16_uc001akc.2_Missense_Mutation_p.G650R|PRDM16_uc001akd.2_Missense_Mutation_p.G650R|PRDM16_uc001ake.2_Missense_Mutation_p.G650R|PRDM16_uc009vlh.2_Missense_Mutation_p.G351R	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	650					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCCAAGTTTGGGGGCGGCTT	0.687000			T	EVI1	MDS|AML								34	5					0	0	0.000132358	0	0
NBPF1	55672	broad.mit.edu	37	1	16913547	16913548	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:16913547_16913548GG>TT	uc009vos.1	-	11	1663_1664	c.775_776CC>AA	c.(775-777)CCA>AAA	p.P259K	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	259	NBPF 1.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTT	0.401000													17	554					0	0	6.4e-05	0	0
Unknown	0	broad.mit.edu	37	1	21752830	21752830	+	RNA	SNP	C	T	T	rs139145324	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:21752830C>T	uc001bep.1	-	3		c.146G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TGAAAGGAGTCGAATACCATC	0.473000													13	31					0	0	5.49717e-05	0	0
COL16A1	1307	broad.mit.edu	37	1	32120459	32120460	+	Splice_Site	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:32120459_32120460CC>AA	uc001btk.1	-	68	4656	c.4291_splice	c.e68-1	p.G1431_splice	COL16A1_uc001bti.1_Splice_Site_p.G45_splice|COL16A1_uc001btj.1_Splice_Site_p.G1229_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ACCATGTCTCCCTGAAGAAAGA	0.460000													9	162					0	0	6.4e-05	0	0
SLC35A3	23443	broad.mit.edu	37	1	100459140	100459140	+	Silent	SNP	G	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:100459140G>C	uc001dsp.1	+	2	227	c.30G>C	c.(28-30)CTG>CTC	p.L10L	SLC35A3_uc001dsq.1_Silent_p.L10L|SLC35A3_uc009wdy.1_Silent_p.L10L|SLC35A3_uc001dsr.1_Silent_p.L52L|SLC35A3_uc001dss.1_5'Flank	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	10	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		ACGTTTCCCTGGGAATTTTGG	0.348000													3	47					0	0	1.23904e-05	0	0
GPSM2	29899	broad.mit.edu	37	1	109444446	109444447	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:109444446_109444447CG>AT	uc010ovc.1	+	8	1328_1329	c.832_833CG>AT	c.(832-834)CGA>ATA	p.R278I	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.R278I|GPSM2_uc010ove.1_Missense_Mutation_p.R278I	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	278					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GCTTAAAGACCGAGCTGTAGAA	0.356000													14	446					0	0	6.4e-05	0	0
CLCC1	23155	broad.mit.edu	37	1	109486591	109486592	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:109486591_109486592CC>AA	uc001dwe.1	-	5	519_520	c.427_428GG>TT	c.(427-429)GGA>TTA	p.G143L	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.G143L|CLCC1_uc001dwg.1_Intron|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Missense_Mutation_p.G143L	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	143						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCAGTCTTCTCCATTGAGAAAC	0.327000													14	629					0	0	6.4e-05	0	0
PHGDH	26227	broad.mit.edu	37	1	120269632	120269633	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120269632_120269633GG>TT	uc001ehz.2	+	5	644_645	c.417_418GG>TT	c.(415-420)ATGGGA>ATTTGA	p.139_140MG>I*	PHGDH_uc009whl.2_Nonsense_Mutation_p.41_42MG>I*|PHGDH_uc009whm.2_Nonsense_Mutation_p.37_38MG>I*|PHGDH_uc001eia.2_Nonsense_Mutation_p.139_140MG>I*|PHGDH_uc009whn.2_Nonsense_Mutation_p.139_140MG>I*|PHGDH_uc001eib.2_Nonsense_Mutation_p.105_106MG>I*	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	139_140					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGCAGTTCATGGGAACAGAGCT	0.559000													23	874					0	0	6.4e-05	0	0
PHGDH	26227	broad.mit.edu	37	1	120283111	120283112	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120283111_120283112CC>AA	uc001ehz.2	+	9	1275_1276	c.1048_1049CC>AA	c.(1048-1050)CCC>AAC	p.P350N	PHGDH_uc009whm.2_Missense_Mutation_p.P248N|PHGDH_uc001eia.2_Missense_Mutation_p.P349N|PHGDH_uc009whn.2_Missense_Mutation_p.P350N|PHGDH_uc001eib.2_Missense_Mutation_p.P316N|PHGDH_uc001eic.2_5'Flank	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	350					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGCTGGGTCCCCCAAAGGGACC	0.619000													14	627					0	0	6.4e-05	0	0
REG4	83998	broad.mit.edu	37	1	120337295	120337296	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120337295_120337296CC>AA	uc001eig.2	-	7	862_863	c.422_423GG>TT	c.(421-423)TGG>TTT	p.W141F	REG4_uc001eif.2_Missense_Mutation_p.W141F	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	141	C-type lectin.					extracellular region	sugar binding			ovary(1)	1	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CGTTGCTGCTCCAAGTTAAAAA	0.421000													15	867					0	0	6.4e-05	0	0
NBPF7	343505	broad.mit.edu	37	1	120378646	120378647	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120378646_120378647CC>AA	uc010oxk.1	-	7	1720_1721	c.1099_1100GG>TT	c.(1099-1101)GGG>TTG	p.G367L		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	367	NBPF 2.					cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		AGTTTCTTCCCCTTTGGAATTG	0.446000													16	862					0	0	6.4e-05	0	0
NBPF7	343505	broad.mit.edu	37	1	120378743	120378744	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120378743_120378744GG>TT	uc010oxk.1	-	7	1623_1624	c.1002_1003CC>AA	c.(1000-1005)TCCCAA>TCAAAA	p.Q335K		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	335	NBPF 2.					cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TGGTAAGATTGGGACACATCAT	0.500000													22	886					0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120437038	120437039	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120437038_120437039CG>AT	uc001eij.2	-	1	2075_2076	c.1921_1922CG>AT	c.(1921-1923)CGG>ATG	p.R641M		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	641	EGF-like.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCAAACACCCCGGGTATTGCAT	0.490000													17	890					0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438501	120438502	+	Missense_Mutation	DNP	GG	TT	TT	rs17852538		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120438501_120438502GG>TT	uc001eij.2	-	1	612_613	c.458_459CC>AA	c.(457-459)CCC>CAA	p.P153Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	153					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTCAAAACTGGGAGAGGCCTT	0.450000													24	918					0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438670	120438671	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120438670_120438671CC>AA	uc001eij.2	-	1	443_444	c.289_290GG>TT	c.(289-291)GGG>TTG	p.G97L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	97					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGCAGTTCCCCATGTTCTGTG	0.490000													28	933					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461160	120461161	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120461160_120461161CG>AT	uc001eik.2	-	32	6053_6054	c.5797_5798CG>AT	c.(5797-5799)CGA>ATA	p.R1933I		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1933	ANK 3.|Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAGTTACTCGGTTGCGAATC	0.480000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				12	866					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464353	120464354	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120464353_120464354GG>TT	uc001eik.2	-	29	5548_5549	c.5292_5293CC>AA	c.(5290-5295)CCCCAG>CCAAAG	p.Q1765K		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1765	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTTGGCTGGGGCCCTTCAT	0.421000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				18	893					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466346	120466347	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120466346_120466347GG>TT	uc001eik.2	-	26	5028_5029	c.4772_4773CC>AA	c.(4771-4773)CCC>CAA	p.P1591Q		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1591	Negative regulatory region (NRR).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATAATAGGGGTACACCAT	0.554000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				20	843					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468324	120468325	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120468324_120468325CG>AT	uc001eik.2	-	25	4370_4371	c.4114_4115CG>AT	c.(4114-4116)CGG>ATG	p.R1372M		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1372	Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGCAGTCCCGGGGACTGGGG	0.658000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				13	550					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120484301	120484302	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120484301_120484302CC>AA	uc001eik.2	-	18	3084_3085	c.2828_2829GG>TT	c.(2827-2829)GGG>GTT	p.G943V	NOTCH2_uc001eil.2_Missense_Mutation_p.G943V	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	943	EGF-like 24; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACTTATCCCCAGTGAAACC	0.480000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				17	868					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120496284	120496285	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120496284_120496285CC>AA	uc001eik.2	-	14	2502_2503	c.2246_2247GG>TT	c.(2245-2247)TGG>TTT	p.W749F	NOTCH2_uc001eil.2_Missense_Mutation_p.W749F|NOTCH2_uc001eim.3_Missense_Mutation_p.W666F	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	749	EGF-like 19.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGCCAACCCAGCCTGCATC	0.396000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				16	903					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497663	120497664	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120497663_120497664CC>AA	uc001eik.2	-	13	2474_2475	c.2218_2219GG>TT	c.(2218-2220)GGA>TTA	p.G740L	NOTCH2_uc001eil.2_Missense_Mutation_p.G740L|NOTCH2_uc001eim.3_Missense_Mutation_p.G657L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	740	EGF-like 19.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTACTCACCCACTGAGACCT	0.515000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				26	887					0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120506320	120506321	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:120506320_120506321CG>AT	uc001eik.2	-	11	2047_2048	c.1791_1792CG>AT	c.(1789-1794)CCCGGG>CCATGG	p.G598W	NOTCH2_uc001eil.2_Missense_Mutation_p.G598W|NOTCH2_uc001eim.3_Missense_Mutation_p.G515W	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	598	Extracellular (Potential).|EGF-like 15; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCATGTACCCGGGATTGCAGA	0.525000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				16	872					0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917924	144917925	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:144917924_144917925CC>AA	uc001elw.3	-	11	1652_1653	c.1361_1362GG>TT	c.(1360-1362)CGG>CTT	p.R454L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R520L|PDE4DIP_uc001emc.1_Missense_Mutation_p.R454L|PDE4DIP_uc001emd.1_Missense_Mutation_p.R454L|PDE4DIP_uc001emb.1_Missense_Mutation_p.R617L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.R241L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	454	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTAGGAGCTCCCGAAATTCCTG	0.262000			T	PDGFRB	MPD								16	756					0	0	6.4e-05	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281479	145281480	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:145281479_145281480GG>TT	uc001emn.3	+	4	779_780	c.409_410GG>TT	c.(409-411)GGG>TTG	p.G137L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G137L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G137L|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	137	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						AGGCTTCACAGGGCAGAAGTGT	0.554000													25	941					0	0	6.4e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:145296403C>T	uc001end.3	+	3	360	c.325C>T	c.(325-327)CTA>TTA	p.L109L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	109											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													6	289					0	0	2.17888e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	A	A	rs78186669		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:145360584G>A	uc001end.3	+	76	9469	c.9434G>A	c.(9433-9435)GGG>GAG	p.G3145E	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Missense_Mutation_p.G443E	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3070											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.483000													4	20					0	0	8.12818e-05	0	0
NBPF14	25832	broad.mit.edu	37	1	148009508	148009509	+	Missense_Mutation	DNP	CC	AA	AA	rs143363070	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:148009508_148009509CC>AA	uc001eqq.2	-	16	1815_1816	c.1798_1799GG>TT	c.(1798-1800)GGG>TTG	p.G600L	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.G173L|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	600	NBPF 7.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					CAACAGCTCCCCGCTGAGCCTG	0.465000													15	874					0	0	6.4e-05	0	0
TCHH	7062	broad.mit.edu	37	1	152082304	152082304	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:152082304T>G	uc001ezp.2	-	2	3389	c.3389A>C	c.(3388-3390)AAG>ACG	p.K1130T	TCHH_uc009wne.1_Missense_Mutation_p.K1130T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1130	4-8.|10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gcgccttctcttctcccgttc	0.239000													4	108					0	0	1.23904e-05	0	0
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:152082320T>C	uc001ezp.2	-	2	3373	c.3373A>G	c.(3373-3375)AGA>GGA	p.R1125G	TCHH_uc009wne.1_Missense_Mutation_p.R1125G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1125	4-8.|10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.224000													4	108					0	0	1.23904e-05	0	0
RPTN	126638	broad.mit.edu	37	1	152127975	152127976	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:152127975_152127976GG>TT	uc001ezs.1	-	3	1664_1665	c.1599_1600CC>AA	c.(1597-1602)TCCCAC>TCAAAC	p.H534N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	534	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TGACTGTAGTGGGAACTCTGGC	0.540000													12	652					0	0	6.4e-05	0	0
C4BPA	722	broad.mit.edu	37	1	207287557	207287557	+	Silent	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:207287557C>T	uc001hfo.2	+	3	449	c.255C>T	c.(253-255)TAC>TAT	p.Y85Y		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	85	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCCCTGGCTACGTCAGATCCC	0.433000													16	46					0	0	5.01169e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223177703	223177704	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:223177703_223177704GG>TT	uc001hnu.1	+	8	3111_3112	c.2964_2965GG>TT	c.(2962-2967)ATGGGG>ATTTGG	p.988_989MG>IW		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	988_989	Helical; (Potential).				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TCATTGCCATGGGGCTGTCAGT	0.485000													10	530					0	0	6.4e-05	0	0
RYR2	6262	broad.mit.edu	37	1	237732504	237732504	+	Silent	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:237732504C>T	uc001hyl.1	+	29	3603	c.3483C>T	c.(3481-3483)GTC>GTT	p.V1161V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1161	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGGCGATGTCGTGGGGTGTA	0.502000													13	32					0	0	0.00010058	0	0
FMN2	56776	broad.mit.edu	37	1	240371521	240371521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:240371521G>A	uc010pyd.1	+	5	3634	c.3409G>A	c.(3409-3411)GGA>AGA	p.G1137R	FMN2_uc010pye.1_Missense_Mutation_p.G1141R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1137	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTTCCCGGAGCGGGCAT	0.716000													4	7					0	0	0.00024832	0	0
UPF2	26019	broad.mit.edu	37	10	12070985	12070986	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12070985_12070986GG>TT	uc001ila.2	-	2	1377_1378	c.903_904CC>AA	c.(901-906)TCCCAC>TCAAAC	p.H302N	UPF2_uc001ilb.2_Missense_Mutation_p.H302N|UPF2_uc001ilc.2_Missense_Mutation_p.H302N|UPF2_uc009xiz.1_Missense_Mutation_p.H302N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	302	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				ACATGAGTGTGGGACTCCCGAT	0.376000													16	521					0	0	6.4e-05	0	0
UPF2	26019	broad.mit.edu	37	10	12077265	12077266	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12077265_12077266GG>TT	uc001ila.2	-	1	631_632	c.157_158CC>AA	c.(157-159)CCT>AAT	p.P53N	UPF2_uc001ilb.2_Missense_Mutation_p.P53N|UPF2_uc001ilc.2_Missense_Mutation_p.P53N|UPF2_uc009xiz.1_Missense_Mutation_p.P53N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	53	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CTTGTCTTCAGGGGCCTTGCTG	0.441000													17	825					0	0	6.4e-05	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160747	12160748	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12160747_12160748GG>TT	uc001ild.3	+	15	2502	c.2403_splice	c.e15-1	p.K801_splice		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain						glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGTCCAACAGGGTTAAGACCC	0.376000													13	329					0	0	6.4e-05	0	0
SEC61A2	55176	broad.mit.edu	37	10	12199906	12199907	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:12199906_12199907GG>TT	uc001ile.2	+	9	925	c.778_splice	c.e9-1	p.G260_splice	SEC61A2_uc010qbq.1_Splice_Site_p.G238_splice|SEC61A2_uc001ilf.3_Splice_Site|SEC61A2_uc001ilh.3_Splice_Site|SEC61A2_uc001ilg.3_Splice_Site_p.G260_splice	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a							endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				TCCTTTTTTAGGGATTTCGCGT	0.490000													11	237					0	0	6.4e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55996590	55996590	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:55996590G>A	uc001jju.1	-	9	1373	c.978C>T	c.(976-978)ATC>ATT	p.I326I	PCDH15_uc010qhq.1_Silent_p.I331I|PCDH15_uc010qhr.1_Silent_p.I326I|PCDH15_uc010qhs.1_Silent_p.I331I|PCDH15_uc010qht.1_Silent_p.I326I|PCDH15_uc010qhu.1_Silent_p.I326I|PCDH15_uc001jjv.1_Silent_p.I304I|PCDH15_uc010qhv.1_Silent_p.I326I|PCDH15_uc010qhw.1_Silent_p.I289I|PCDH15_uc010qhx.1_Silent_p.I326I|PCDH15_uc010qhy.1_Silent_p.I331I|PCDH15_uc010qhz.1_Silent_p.I326I|PCDH15_uc010qia.1_Silent_p.I304I|PCDH15_uc010qib.1_Silent_p.I304I|PCDH15_uc001jjw.2_Silent_p.I326I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	326	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AACCAACAAGGATGGAATAGA	0.363000										HNSCC(58;0.16)			27	59					0	0	0.000147802	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414014	61414015	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:61414014_61414015GG>TT	uc010qig.1	-	5	1218_1219	c.769_770CC>AA	c.(769-771)CCC>AAC	p.P257N		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	257	Extracellular (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						TGTCACTGTGGGGTTTTTATGA	0.401000													9	204					0	0	6.4e-05	0	0
TCF7L2	6934	broad.mit.edu	37	10	114724329	114724330	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr10:114724329_114724330CG>AT	uc001lae.3	+	4	903_904	c.396_397CG>AT	c.(394-399)TCCGGC>TCATGC	p.G133C	TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Missense_Mutation_p.G133C|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	133					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATTTTCAGTCCGGCAGCACACA	0.391000													11	442					0	0	6.4e-05	0	0
MUC6	4588	broad.mit.edu	37	11	1016880	1016881	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:1016880_1016881CC>AA	uc001lsw.2	-	31	5971_5972	c.5920_5921GG>TT	c.(5920-5922)GGG>TTG	p.G1974L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1974	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACTGCTCCCTGTAGGTGGG	0.584000													16	628					0	0	6.4e-05	0	0
ARAP1	116985	broad.mit.edu	37	11	72406827	72406828	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:72406827_72406828CC>AA	uc001osu.2	-	24	3544_3545	c.3355_3356GG>TT	c.(3355-3357)GGG>TTG	p.G1119L	ARAP1_uc001osv.2_Missense_Mutation_p.G1119L|ARAP1_uc001osr.2_Missense_Mutation_p.G879L|ARAP1_uc001oss.2_Missense_Mutation_p.G874L|ARAP1_uc009yth.2_Missense_Mutation_p.G813L|ARAP1_uc010rre.1_Missense_Mutation_p.G874L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1119	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GTAGTCCTGCCCATCTGTCTGG	0.574000													15	774					0	0	6.4e-05	0	0
ARAP1	116985	broad.mit.edu	37	11	72421461	72421462	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:72421461_72421462CC>AA	uc001osu.2	-	10	1573_1574	c.1384_1385GG>TT	c.(1384-1386)GGG>TTG	p.G462L	ARAP1_uc001osv.2_Missense_Mutation_p.G462L|ARAP1_uc001osr.2_Missense_Mutation_p.G222L|ARAP1_uc001oss.2_Missense_Mutation_p.G217L|ARAP1_uc009yth.2_Missense_Mutation_p.G217L|ARAP1_uc010rre.1_Missense_Mutation_p.G217L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	462	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CACTTTGTCCCCGACCACGGCC	0.599000													15	531					0	0	6.4e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553733	72553734	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:72553733_72553734GG>TT	uc009ytl.2	-	17	2079_2080	c.1858_1859CC>AA	c.(1858-1860)CCA>AAA	p.P620K	FCHSD2_uc010rrg.1_Missense_Mutation_p.P484K|FCHSD2_uc001oth.3_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	620	SH3 2.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCACCGATGGGAAAACTCCA	0.441000													16	811					0	0	6.4e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72579046	72579047	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:72579046_72579047CG>AT	uc009ytl.2	-	13	1392_1393	c.1171_1172CG>AT	c.(1171-1173)CGG>ATG	p.R391M	FCHSD2_uc010rrg.1_Missense_Mutation_p.R255M|FCHSD2_uc001oth.3_Missense_Mutation_p.R335M|FCHSD2_uc001oti.2_Missense_Mutation_p.R350M	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	391	Potential.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CAGGTCCAACCGGGCTTCAGCT	0.361000													12	734					0	0	6.4e-05	0	0
PGM2L1	283209	broad.mit.edu	37	11	74057837	74057838	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:74057837_74057838CG>AT	uc001ovb.1	-	8	1272_1273	c.976_977CG>AT	c.(976-978)CGG>ATG	p.R326M		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	326					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					TAGCACTACCCGGGCATTTTCT	0.431000													11	398					0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92086551	92086552	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:92086551_92086552CG>AT	uc001pdj.3	+	1	1290_1291	c.1273_1274CG>AT	c.(1273-1275)CGG>ATG	p.R425M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	425	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTAATCCTCGGTCGGGTCTG	0.411000										TCGA Ovarian(4;0.039)			6	263					0	0	6.4e-05	0	0
BCL9L	283149	broad.mit.edu	37	11	118779312	118779312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr11:118779312G>A	uc001pug.2	-	2	1044	c.79C>T	c.(79-81)CGC>TGC	p.R27C	BCL9L_uc009zal.2_Missense_Mutation_p.R22C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	27					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAATGACCGCGGGGGGACAGC	0.592000													7	15					0	0	1.12685e-05	0	0
ANKS1B	56899	broad.mit.edu	37	12	99222981	99222982	+	Silent	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr12:99222981_99222982GG>TT	uc001tge.1	-	19	3453_3454	c.3036_3037CC>AA	c.(3034-3039)CCCCGA>CCAAGA	p.1012_1013PR>PR	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Silent_p.309_310PR>PR|ANKS1B_uc010svd.1_Silent_p.18_19PR>PR|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Silent_p.18_19PR>PR|ANKS1B_uc001tgh.3_Silent_p.18_19PR>PR|ANKS1B_uc001tgi.2_Silent_p.238_239PR>PR|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_Silent_p.18_19PR>PR|ANKS1B_uc010svf.1_Silent_p.18_19PR>PR|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Silent_p.238_239PR>PR	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	1012_1013						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTTTTGATCGGGGAATATCAT	0.426000													6	289					0	0	6.4e-05	0	0
SYT16	83851	broad.mit.edu	37	14	62542015	62542015	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr14:62542015C>G	uc001xfu.1	+	3	1096	c.899C>G	c.(898-900)TCC>TGC	p.S300C	SYT16_uc010tsd.1_Missense_Mutation_p.S300C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	300										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGGCGCCAATCCACAGAGGGC	0.542000													3	40					0	0	6.4e-05	0	0
LOC646214	646214	broad.mit.edu	37	15	21936678	21936678	+	RNA	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:21936678T>C	uc010tzj.1	-	1		c.4062A>G				NR_027053				Homo sapiens mRNA for p21-activated kinase 2 variant protein.												0						ACCCCTTTTTTCCACATCTGT	0.398000													20	148					0	0	0.000132079	0	0
BLM	641	broad.mit.edu	37	15	91312395	91312396	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:91312395_91312396GG>TT	uc002bpr.2	+	11	2437_2438	c.2340_2341GG>TT	c.(2338-2343)CTGGAG>CTTTAG	p.E781*	BLM_uc010uqh.1_Nonsense_Mutation_p.E781*|BLM_uc010uqi.1_Nonsense_Mutation_p.E406*|BLM_uc010bnx.2_Nonsense_Mutation_p.E781*|BLM_uc002bps.1_Nonsense_Mutation_p.E343*	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	781	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTTCTACTCTGGAGAATCTCTA	0.381000			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				23	782					0	0	6.4e-05	0	0
SV2B	9899	broad.mit.edu	37	15	91827396	91827397	+	Missense_Mutation	DNP	CG	AT	AT	rs111640061		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr15:91827396_91827397CG>AT	uc002bqv.2	+	10	2044_2045	c.1653_1654CG>AT	c.(1651-1656)CCCGGG>CCATGG	p.G552W	SV2B_uc010uqv.1_Missense_Mutation_p.G401W|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	552	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTGTCTTACCCGGGAACATCAT	0.540000													18	410					0	0	6.4e-05	0	0
BTBD12	84464	broad.mit.edu	37	16	3639658	3639658	+	Silent	SNP	G	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:3639658G>C	uc002cvp.2	-	12	4608	c.3981C>G	c.(3979-3981)CCC>CCG	p.P1327P		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1327	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTGGAGAGACGGGAGTGAGGC	0.627000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				3	74					0	0	0.00024832	0	0
SMG1	23049	broad.mit.edu	37	16	18848644	18848644	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:18848644A>G	uc002dfm.2	-	46	7898	c.7535T>C	c.(7534-7536)CTA>CCA	p.L2512P	SMG1_uc010bwb.2_Missense_Mutation_p.L2372P|SMG1_uc010bwa.2_Missense_Mutation_p.L1243P	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2512					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TTCCTCCAGTAGTTTGCCCTG	0.428000													63	134					0	0	0.000147903	0	0
TAOK2	9344	broad.mit.edu	37	16	29998438	29998438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:29998438C>T	uc002dva.1	+	16	3628	c.2845C>T	c.(2845-2847)CAT>TAT	p.H949Y	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.H956Y|TAOK2_uc002dvd.1_Missense_Mutation_p.H776Y	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	949	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						ACTCCTGTCCCATGGCCTCCT	0.667000													39	79					0	0	0.000147903	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53706882	53706883	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr16:53706882_53706883CC>AA	uc002ehp.2	-	8	992_993	c.928_929GG>TT	c.(928-930)GGG>TTG	p.G310L	RPGRIP1L_uc002eho.3_Missense_Mutation_p.G310L|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.G310L|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.G310L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G310L|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.G310L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	310					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TAATTCATCCCCATTTGCCATC	0.317000													13	516					0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10415496	10415496	+	Silent	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr17:10415496T>C	uc002gmo.2	-	13	1255	c.1161A>G	c.(1159-1161)GCA>GCG	p.A387A	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	387	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GGAGATAGGCTGCCTTGTCAG	0.443000													7	83					0	0	0.000157383	0	0
CA4	762	broad.mit.edu	37	17	58235086	58235086	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr17:58235086G>A	uc002iym.3	+	5	544	c.450G>A	c.(448-450)TCG>TCA	p.S150S	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	150					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)	AGGGGACATCGAGGAATGTGA	0.592000													56	12					0	0	0.000147903	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr18:3188908T>C	uc002klp.2	-	4	943	c.609A>G	c.(607-609)ACA>ACG	p.T203T	MYOM1_uc002klq.2_Silent_p.T203T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	203	4.|6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCTTGGATGCTGTGGACTGCT	0.532000													4	94					0	0	8.12818e-05	0	0
INSR	3643	broad.mit.edu	37	19	7267586	7267587	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:7267586_7267587CG>AT	uc002mgd.1	-	2	530_531	c.421_422CG>AT	c.(421-423)CGG>ATG	p.R141M	INSR_uc002mge.1_Missense_Mutation_p.R141M|INSR_uc002mgf.2_Missense_Mutation_p.R141M	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	141					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACAGAACCCCGGGTGATGTTC	0.515000													9	480					0	0	6.4e-05	0	0
UPF1	5976	broad.mit.edu	37	19	18960966	18960966	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:18960966G>T	uc002nkg.2	+	4	819	c.544G>T	c.(544-546)GAG>TAG	p.E182*	UPF1_uc002nkf.2_Nonsense_Mutation_p.E182*	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	182	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GACAGTCCTGGAGTGCTACAA	0.572000													24	38					1.22574e-08	7.83122e-07	3.10358e-05	1	0
PSG3	5671	broad.mit.edu	37	19	43243060	43243060	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:43243060G>A	uc002oue.2	-	2	378	c.246C>T	c.(244-246)TAC>TAT	p.Y82Y	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.Y104Y	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	82	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CATCTACTACGTATGATGTAA	0.443000													125	203					0	0	0.000147903	0	0
NAPA	8775	broad.mit.edu	37	19	47991567	47991567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:47991567C>T	uc002pha.1	-	11	1166	c.866G>A	c.(865-867)GGC>GAC	p.G289D	uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.G250D|NAPA_uc002phc.1_Missense_Mutation_p.G176D|NAPA_uc002phd.1_Missense_Mutation_p.G289D	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	289					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTCCTCATCGCCCTGGATGGT	0.622000													23	36					0	0	0.000117367	0	0
LILRB4	11006	broad.mit.edu	37	19	55179198	55179198	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:55179198A>G	uc002qgp.2	+	11	1516	c.1154A>G	c.(1153-1155)GAC>GGC	p.D385G	LILRB4_uc002qgq.2_Missense_Mutation_p.D384G|LILRB4_uc002qgr.2_Missense_Mutation_p.D427G|LILRB4_uc010ert.2_Missense_Mutation_p.D426G|LILRB4_uc010eru.2_Missense_Mutation_p.D415G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	385	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		GAATTCCTGGACACAAAGGAC	0.587000													4	22					0	0	1.23904e-05	0	0
APOB	338	broad.mit.edu	37	2	21234704	21234705	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:21234704_21234705CC>AA	uc002red.2	-	26	5163_5164	c.5035_5036GG>TT	c.(5035-5037)GGG>TTG	p.G1679L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1679					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)	CATAGATGCCCCAGAGAGGCCA	0.485000													11	378					0	0	6.4e-05	0	0
THADA	63892	broad.mit.edu	37	2	43797552	43797553	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:43797552_43797553GG>TT	uc002rsw.3	-	14	2513_2514	c.2161_2162CC>AA	c.(2161-2163)CCT>AAT	p.P721N	THADA_uc010far.2_5'UTR|THADA_uc002rsx.3_Missense_Mutation_p.P721N|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.P431N|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Missense_Mutation_p.P431N|THADA_uc002rtb.1_Missense_Mutation_p.P721N|THADA_uc002rtc.3_Missense_Mutation_p.P721N|THADA_uc002rtd.2_Missense_Mutation_p.P721N	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	721							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAAACAGAAGGGTGCTGTTTG	0.312000													11	464					0	0	6.4e-05	0	0
THADA	63892	broad.mit.edu	37	2	43802053	43802054	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:43802053_43802054CC>AA	uc002rsw.3	-	11	1502_1503	c.1150_1151GG>TT	c.(1150-1152)GGG>TTG	p.G384L	THADA_uc002rsx.3_Missense_Mutation_p.G384L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.G94L|THADA_uc002rta.2_Missense_Mutation_p.G94L|THADA_uc002rtb.1_Missense_Mutation_p.G384L|THADA_uc002rtc.3_Missense_Mutation_p.G384L|THADA_uc002rtd.2_Missense_Mutation_p.G384L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	384							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTTGAATTCCCATTCAGGCTG	0.421000													14	583					0	0	6.4e-05	0	0
RGPD3	653489	broad.mit.edu	37	2	107073516	107073516	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:107073516T>C	uc010ywi.1	-	4	373	c.316A>G	c.(316-318)AAA>GAA	p.K106E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	106					intracellular transport		binding			ovary(1)	1						ACATCATTTTTACAAAGCAAT	0.328000													59	104					0	0	0.000147903	0	0
RIF1	55183	broad.mit.edu	37	2	152289643	152289643	+	Silent	SNP	C	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:152289643C>G	uc002txm.2	+	10	1108	c.978C>G	c.(976-978)TCC>TCG	p.S326S	RIF1_uc002txl.2_Silent_p.S326S|RIF1_uc010fnv.1_Silent_p.S290S|RIF1_uc002txn.2_Silent_p.S326S|RIF1_uc002txo.2_Silent_p.S326S|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	326					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTTTGAGTTCCATCCATGTGA	0.368000													3	54					0	0	0.00024832	0	0
WDR12	55759	broad.mit.edu	37	2	203748930	203748931	+	Silent	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:203748930_203748931GG>TT	uc002uzl.2	-	10	1728_1729	c.978_979CC>AA	c.(976-981)CCCCGA>CCAAGA	p.326_327PR>PR	WDR12_uc010ftt.2_Silent_p.326_327PR>PR	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	326_327	WD 5.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CCTTTAGTTCGGGGATCCCACA	0.366000													8	409					0	0	6.4e-05	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209168924	209168924	+	Silent	SNP	C	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:209168924C>G	uc002vcz.2	+	11	1508	c.1350C>G	c.(1348-1350)CCC>CCG	p.P450P	PIKFYVE_uc010fun.1_Silent_p.P131P|PIKFYVE_uc002vcy.1_Silent_p.P450P|PIKFYVE_uc002vcv.2_Silent_p.P353P|PIKFYVE_uc002vcw.2_Silent_p.P450P|PIKFYVE_uc002vcx.2_Silent_p.P364P	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	450					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CGCCTTCTCCCGACAGTGACT	0.448000													3	95					0	0	0.00024832	0	0
TNP1	7141	broad.mit.edu	37	2	217724691	217724691	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr2:217724691C>G	uc002vgk.2	-	1	92	c.67G>C	c.(67-69)GGA>CGA	p.G23R		NM_003284	NP_003275	P09430	STP1_HUMAN	transition protein 1 (during histone to	23					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding				0		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTTGACTCCCTTGTGAGGA	0.522000													3	66					0	0	0.00024832	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr20:29625877G>A	uc010ztl.1	+	2	63	c.31G>A	c.(31-33)GCC>ACC	p.A11T	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						GTACAGAATCGCCCTGAAATC	0.353000													7	73					0	0	0.000157383	0	0
PTPN1	5770	broad.mit.edu	37	20	49195776	49195776	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr20:49195776G>T	uc002xvl.2	+	7	948	c.774G>T	c.(772-774)ATG>ATT	p.M258I	PTPN1_uc010zys.1_Missense_Mutation_p.M185I	NM_002827	NP_002818	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type	258	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding				0		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	AGTTTCGGATGGGGCTGATCC	0.502000													57	195					3.89483e-19	2.50967e-17	0.000147903	1	0
ADSL	158	broad.mit.edu	37	22	40756422	40756422	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr22:40756422G>C	uc003ayp.3	+	7	777	c.718G>C	c.(718-720)GGG>CGG	p.G240R	ADSL_uc003ays.3_Missense_Mutation_p.G240R|ADSL_uc003ayq.3_Missense_Mutation_p.G240R|ADSL_uc003ayr.3_Missense_Mutation_p.G16R|ADSL_uc003ayt.3_Missense_Mutation_p.G225R|ADSL_uc010gyb.1_RNA	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	240					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						CATCATCACAGGGCAGACATA	0.368000													3	56					0	0	6.4e-05	0	0
TSEN2	80746	broad.mit.edu	37	3	12533634	12533635	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:12533634_12533635GG>TT	uc003bxc.2	+	3	577	c.190_splice	c.e3-1	p.G64_splice	TSEN2_uc003bwy.2_Splice_Site_p.G64_splice|TSEN2_uc003bwz.2_Splice_Site_p.G64_splice|TSEN2_uc003bxa.2_Splice_Site_p.G64_splice|TSEN2_uc011auq.1_Splice_Site_p.G64_splice|TSEN2_uc003bxb.2_Splice_Site_p.G64_splice|TSEN2_uc011aur.1_Intron	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1						mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						CTTCCTGGAAGGGTTATTTTGG	0.297000													15	444					0	0	6.4e-05	0	0
ZNF35	7584	broad.mit.edu	37	3	44692709	44692709	+	Silent	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:44692709G>A	uc003cnq.2	+	2	371	c.150G>A	c.(148-150)CAG>CAA	p.Q50Q	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	50	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCCCAGTGCAGGGTCTTCAGA	0.502000													21	34					0	0	4.16121e-05	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617564	64617565	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:64617564_64617565CG>AT	uc003dmg.2	-	15	2244_2245	c.2212_2213CG>AT	c.(2212-2214)CGG>ATG	p.R738M	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R710M|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R567M|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R738M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	738	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTATCTCTCCGGGCTTTTGAG	0.337000													9	644					0	0	6.4e-05	0	0
DIRC2	84925	broad.mit.edu	37	3	122598138	122598139	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:122598138_122598139CG>AT	uc003efw.3	+	9	1489_1490	c.1350_1351CG>AT	c.(1348-1353)CCCGGG>CCATGG	p.G451W	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.G289W|uc003efx.1_RNA	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	451	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		GGTGCCTTCCCGGGTCGTGTTT	0.455000													13	409					0	0	6.4e-05	0	0
A4GNT	51146	broad.mit.edu	37	3	137843566	137843566	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:137843566C>A	uc003ers.2	-	3	765	c.563G>T	c.(562-564)CGG>CTG	p.R188L		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	188	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						ACTAGAGTACCGAGAAGCCTG	0.493000													14	388					3.45872e-05	0.00217294	3.45872e-05	1	0
A4GNT	51146	broad.mit.edu	37	3	137849834	137849835	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:137849834_137849835CC>AA	uc003ers.2	-	2	466_467	c.264_265GG>TT	c.(262-267)AAGGGT>AATTGT	p.88_89KG>NC		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	88_89	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						TCAGTAAGACCCTTCATAAAGA	0.475000													13	464					0	0	6.4e-05	0	0
DBR1	51163	broad.mit.edu	37	3	137892420	137892421	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:137892420_137892421CC>AA	uc003erv.2	-	2	381_382	c.245_246GG>TT	c.(244-246)GGG>GTT	p.G82V	DBR1_uc003eru.2_Missense_Mutation_p.G31V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	82						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CATGGTTTCCCCCAATGAAGAG	0.416000													16	494					0	0	6.4e-05	0	0
CEP70	80321	broad.mit.edu	37	3	138219327	138219328	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:138219327_138219328CC>AA	uc003esl.2	-	15	1648_1649	c.1450_1451GG>TT	c.(1450-1452)GGA>TTA	p.G484L	CEP70_uc011bmk.1_Missense_Mutation_p.G464L|CEP70_uc011bml.1_Missense_Mutation_p.G466L|CEP70_uc011bmm.1_Missense_Mutation_p.G332L|CEP70_uc003esm.2_Missense_Mutation_p.G484L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	484	TPR.				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1						GGGATAGACTCCATTTAAAGAA	0.371000													16	671					0	0	6.4e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138426102	138426103	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:138426102_138426103CC>AA	uc011bmq.1	-	9	1428_1429	c.1428_1429GG>TT	c.(1426-1431)ATGGGA>ATTTGA	p.476_477MG>I*	PIK3CB_uc011bmn.1_Nonsense_Mutation_p.5_6MG>I*|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Nonsense_Mutation_p.80_81MG>I*	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	476_477					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TGAACAGTTCCCATTGGATTCA	0.302000													13	583					0	0	6.4e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461467	138461468	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:138461467_138461468GG>TT	uc011bmq.1	-	3	553_554	c.553_554CC>AA	c.(553-555)CCT>AAT	p.P185N		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	185	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TAAGTTTTCAGGGATGGATGGT	0.366000													15	528					0	0	6.4e-05	0	0
SENP2	59343	broad.mit.edu	37	3	185316811	185316812	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr3:185316811_185316812GG>TT	uc003fpn.2	+	4	528_529	c.357_358GG>TT	c.(355-360)CTGGGT>CTTTGT	p.G120C	SENP2_uc011brv.1_Missense_Mutation_p.G110C|SENP2_uc011brw.1_Intron	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	120					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGCTGAAACTGGGTGAGGTGGT	0.381000													12	429					0	0	6.4e-05	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420910	72420911	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr4:72420910_72420911CC>AA	uc003hfy.2	+	21	2865_2866	c.2748_2749CC>AA	c.(2746-2751)TCCCTT>TCAATT	p.L917I	SLC4A4_uc010iic.2_Missense_Mutation_p.L917I|SLC4A4_uc010iib.2_Missense_Mutation_p.L833I|SLC4A4_uc003hfz.2_Missense_Mutation_p.L917I|SLC4A4_uc003hgc.3_Missense_Mutation_p.L873I|SLC4A4_uc010iid.2_Missense_Mutation_p.L121I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	917	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGTAGCATCCCTTAATGGTGT	0.342000													10	306					0	0	6.4e-05	0	0
MYO10	4651	broad.mit.edu	37	5	16673992	16673993	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:16673992_16673993CC>AA	uc003jft.3	-	36	5438_5439	c.4970_4971GG>TT	c.(4969-4971)CGG>CTT	p.R1657L	MYO10_uc011cnb.1_Missense_Mutation_p.R286L|MYO10_uc011cnc.1_Missense_Mutation_p.R536L|MYO10_uc011cnd.1_Missense_Mutation_p.R1014L|MYO10_uc011cne.1_Missense_Mutation_p.R1014L|MYO10_uc010itx.2_Missense_Mutation_p.R1279L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1657	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GAAACTGTTCCCGTATCCTAGG	0.465000													6	92					0	0	6.4e-05	0	0
CDH9	1007	broad.mit.edu	37	5	26886150	26886151	+	Silent	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:26886150_26886151GG>TT	uc003jgs.1	-	10	1723_1724	c.1554_1555CC>AA	c.(1552-1557)CCCCGA>CCAAGA	p.518_519PR>PR	CDH9_uc011cnv.1_Silent_p.111_112PR>PR	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	518_519	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTGTGACCTCGGGGAGGGTCAT	0.322000													11	196					0	0	6.4e-05	0	0
UTP15	84135	broad.mit.edu	37	5	72872776	72872777	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:72872776_72872777GG>TT	uc003kcw.1	+	8	1033	c.810_splice	c.e8-1	p.R270_splice	UTP15_uc011cso.1_Splice_Site_p.R251_splice|UTP15_uc011csp.1_Splice_Site_p.R80_splice|UTP15_uc010ize.1_Splice_Site_p.R270_splice	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,						rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CTTTTTATTAGGAAGGTGAAAG	0.322000													9	259					0	0	6.4e-05	0	0
F2RL1	2150	broad.mit.edu	37	5	76128757	76128758	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:76128757_76128758CC>AA	uc003keo.2	+	2	500_501	c.325_326CC>AA	c.(325-327)CCT>AAT	p.P109N		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	109	Cytoplasmic (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GAAGAAGCACCCTGCTGTGATT	0.475000													15	576					0	0	6.4e-05	0	0
PDE8B	8622	broad.mit.edu	37	5	76709077	76709078	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:76709077_76709078CC>AA	uc003kfa.2	+	17	1899_1900	c.1854_1855CC>AA	c.(1852-1857)ACCCAT>ACAAAT	p.H619N	PDE8B_uc003kfb.2_Missense_Mutation_p.H599N|PDE8B_uc003kfc.2_Missense_Mutation_p.H564N|PDE8B_uc003kfd.2_Missense_Mutation_p.H572N|PDE8B_uc003kfe.2_Missense_Mutation_p.H522N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	619	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACAACTCCACCCATGCTGCCGA	0.475000													13	473					0	0	6.4e-05	0	0
HOMER1	9456	broad.mit.edu	37	5	78671906	78671906	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:78671906C>T	uc003kfy.2	-	9	2094	c.991G>A	c.(991-993)GAA>AAA	p.E331K	HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Missense_Mutation_p.E201K|HOMER1_uc010jad.2_Missense_Mutation_p.E157K	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	331	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCCAGAATTTCTAAGAGTGTC	0.393000													28	55					0	0	0.000117367	0	0
DMXL1	1657	broad.mit.edu	37	5	118525496	118525497	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:118525496_118525497CG>AT	uc003ksd.2	+	29	7410_7411	c.7229_7230CG>AT	c.(7228-7230)TCG>TAT	p.S2410Y	DMXL1_uc010jcl.1_Missense_Mutation_p.S2410Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2410										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCCCTTCCTCGGCACCAGTAA	0.431000													6	130					0	0	6.4e-05	0	0
LARS	51520	broad.mit.edu	37	5	145533506	145533506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:145533506G>A	uc003lnx.1	-	11	1341	c.1103C>T	c.(1102-1104)TCA>TTA	p.S368L	LARS_uc011dbq.1_Missense_Mutation_p.S322L|LARS_uc011dbr.1_Missense_Mutation_p.S314L|LARS_uc011dbs.1_Missense_Mutation_p.S341L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	368	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CACCTTGTATGATGTTAAAGG	0.294000													28	48					0	0	0.000109025	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469690	156469691	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:156469690_156469691CC>AA	uc010jij.1	-	6	969_970	c.784_785GG>TT	c.(784-786)GGG>TTG	p.G262L	HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	257	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGTCATTCCCATCTACTCAA	0.347000													13	486					0	0	6.4e-05	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657000									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			6	13					0	0	3.59834e-05	0	0
CDSN	1041	broad.mit.edu	37	6	31084467	31084467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:31084467G>A	uc003nsm.1	-	2	952	c.925C>T	c.(925-927)CCA>TCA	p.P309S	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	309	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2						GTCATGCCTGGAACCAGATAA	0.547000													13	4					0	0	0.000151284	0	0
PHF3	23469	broad.mit.edu	37	6	64394879	64394879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:64394879C>T	uc003pep.1	+	3	1282	c.1256C>T	c.(1255-1257)TCA>TTA	p.S419L	PHF3_uc010kaf.1_Missense_Mutation_p.S419L|PHF3_uc003pem.2_Missense_Mutation_p.S372L|PHF3_uc010kag.1_Missense_Mutation_p.S331L|PHF3_uc010kah.1_Missense_Mutation_p.S233L|PHF3_uc003pen.2_Missense_Mutation_p.S331L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S419L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	419					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTAATAAATCAAACTTAGAG	0.363000													33	61					0	0	0.000109025	0	0
NCOA7	135112	broad.mit.edu	37	6	126211073	126211073	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr6:126211073A>G	uc010kes.2	+	11	2322	c.1873A>G	c.(1873-1875)AAT>GAT	p.N625D	NCOA7_uc003qae.3_Missense_Mutation_p.N625D|NCOA7_uc003qah.2_Missense_Mutation_p.N614D|NCOA7_uc003qai.2_Missense_Mutation_p.N625D|NCOA7_uc010ket.2_Missense_Mutation_p.N510D	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	625					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACAAATGGATAATAAATCTGA	0.373000													37	18					0	0	6.26518e-05	0	0
PMS2L4	5382	broad.mit.edu	37	7	66764321	66764321	+	RNA	SNP	C	A	A			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr7:66764321C>A	uc003tvo.2	-	2		c.135G>T			PMS2L4_uc003tvq.2_RNA|PMS2L4_uc003tvr.3_RNA|PMS2L4_uc003tvs.3_RNA					Homo sapiens cDNA clone IMAGE:4081618.												0						ACTCCTTCACCGCAGTGCTTA	0.453000													7	360					0.000157383	0.00972551	0.000157383	1	0
COPG2	26958	broad.mit.edu	37	7	130147133	130147134	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr7:130147133_130147134GG>TT	uc003vqh.1	-	13	2556_2557	c.2466_2467CC>AA	c.(2464-2469)TCCCAT>TCAAAT	p.H823N		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	823					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)					TAGAGCGAATGGGAATTCTTGT	0.416000													15	523					0	0	6.4e-05	0	0
HIPK2	28996	broad.mit.edu	37	7	139258049	139258049	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr7:139258049G>C	uc003vvf.3	-	15	3395	c.3221C>G	c.(3220-3222)CCG>CGG	p.P1074R	HIPK2_uc003vvd.3_Missense_Mutation_p.P1047R	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	1074	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GCTGTTGTGCGGGAAGGAGTA	0.682000													3	54					0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140476822	140476822	+	Silent	SNP	A	G	G			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr7:140476822A>G	uc003vwc.3	-	13	1645	c.1584T>C	c.(1582-1584)GTT>GTC	p.V528V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	528	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACCACTGGGTAACAATAGCCA	0.408000		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				3	72					0	0	1.23904e-05	0	0
MSC	9242	broad.mit.edu	37	8	72754961	72754962	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:72754961_72754962CC>AA	uc003xyx.1	-	2	873_874	c.555_556GG>TT	c.(553-558)TCGGGA>TCTTGA	p.G186*	uc011lff.1_5'Flank|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	186					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCCGGTCTTCCCGAGACCACGA	0.470000													11	479					0	0	6.4e-05	0	0
ESRP1	54845	broad.mit.edu	37	8	95680338	95680339	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:95680338_95680339CC>AA	uc003ygq.3	+	10	1276_1277	c.1093_1094CC>AA	c.(1093-1095)CCA>AAA	p.P365K	ESRP1_uc003ygr.3_Missense_Mutation_p.P365K|ESRP1_uc003ygs.3_Missense_Mutation_p.P365K|ESRP1_uc003ygt.3_Missense_Mutation_p.P365K|ESRP1_uc003ygu.3_Missense_Mutation_p.P365K|ESRP1_uc003ygv.2_Missense_Mutation_p.P205K|ESRP1_uc003ygw.2_Missense_Mutation_p.P205K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	365	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TGTCACCTACCCAGATGGTAGG	0.510000													18	661					0	0	6.4e-05	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777452	95777453	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:95777452_95777453GG>TT	uc003ygx.2	+	9	1036_1037	c.912_913GG>TT	c.(910-915)CTGGGA>CTTTGA	p.G305*		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	305	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					CCCTCTTTCTGGGATATTTACT	0.297000													13	842					0	0	6.4e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95866034	95866035	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:95866034_95866035GG>TT	uc003yhb.2	+	14	1769_1770	c.1643_1644GG>TT	c.(1642-1644)TGG>TTT	p.W548F	INTS8_uc003yha.1_Missense_Mutation_p.W548F|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.W375F	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	548					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TTCTTTTAGTGGGAAGTACCTT	0.317000													19	677					0	0	6.4e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95906253	95906253	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:95906253G>T	uc003yhc.2	-	3	218	c.109C>A	c.(109-111)CAG>AAG	p.Q37K	C8orf38_uc003yhe.1_5'Flank|C8orf38_uc003yhf.2_5'Flank|CCNE2_uc003yhd.2_Missense_Mutation_p.Q37K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	37					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					TAAATCACCTGGGTAGTTTTC	0.468000													16	840					5.3912e-06	0.000341549	7.07596e-05	1	0
SLC30A8	169026	broad.mit.edu	37	8	118159213	118159214	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:118159213_118159214CG>AT	uc003yoh.2	+	2	322_323	c.92_93CG>AT	c.(91-93)CCG>CAT	p.P31H	SLC30A8_uc010mcz.2_Translation_Start_Site|SLC30A8_uc011lia.1_Translation_Start_Site|SLC30A8_uc003yog.2_Translation_Start_Site	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	31	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAACAGAAACCGGTGAATAAAG	0.520000													13	460					0	0	6.4e-05	0	0
ZNF7	7553	broad.mit.edu	37	8	146067043	146067043	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr8:146067043T>C	uc003zeg.3	+	5	688	c.551T>C	c.(550-552)CTT>CCT	p.L184P	ZNF7_uc010mge.2_Missense_Mutation_p.L195P|ZNF7_uc011lln.1_Missense_Mutation_p.L88P|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.L88P|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTCAGCCTCTTGAAAGTCAG	0.537000													19	72					0	0	0.000132079	0	0
LOC442421	442421	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr9:66499794C>T	uc004aee.1	+	1	604	c.604C>T	c.(604-606)CGC>TGC	p.R202C	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						GTGCAAGTCGCGCAAGGAGCA	0.587000													8	43					0	0	0.00010058	0	0
G6PD	2539	broad.mit.edu	37	X	153774257	153774257	+	Silent	SNP	A	C	C			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chrX:153774257A>C	uc004fly.1	-	2	227	c.114T>G	c.(112-114)GGT>GGG	p.G38G	G6PD_uc004flx.1_Silent_p.G68G|IKBKG_uc011mzr.1_Intron|IKBKG_uc010nva.2_5'Flank|IKBKG_uc004fmb.3_5'Flank|IKBKG_uc011mzs.1_5'Flank|IKBKG_uc004fma.3_5'Flank|IKBKG_uc004fmc.3_5'Flank|IKBKG_uc004fmd.2_5'Flank	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	38					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACCGATGCACCCATGATGA	0.562000													37	139					0	0	5.1965e-05	0	0
MDS2	259283	broad.mit.edu	37	1	23953539	23953540	+	RNA	DEL	GA	-	-			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr1:23953539_23953540delGA	uc001bhi.3	+	3		c.829_830delGA			MDS2_uc001bhj.3_RNA					Homo sapiens MDS2 gene.											ovary(2)	2						AAAGGGAGGGGAGAGAGAGAGA	0.208			T	ETV6	MDS								2	4	---	---	---	---					
NDUFS7	374291	broad.mit.edu	37	19	1388895	1388896	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr19:1388895_1388896delTG	uc002lse.3	+	4	229_230	c.186_187delTG	c.(184-189)TATGTGfs	p.Y62fs	NDUFS7_uc002lsf.2_Frame_Shift_Del_p.Y126fs|NDUFS7_uc002lsh.2_Frame_Shift_Del_p.Y126fs|NDUFS7_uc002lsg.2_Frame_Shift_Del_p.Y69fs	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	62_63					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	GGGGCGAGTATGTGGTGGCCAA	0.634													2	4	---	---	---	---					
LMBRD2	92255	broad.mit.edu	37	5	36123065	36123066	+	Splice_Site	INS	-	A	A	rs72438158		TCGA-D3-A2J6-06A-11D-A19A-08	TCGA-D3-A2J6-10A-01D-A19A-08									Somatic	Phase_I	Capture				Illumina GAIIx	5a1877f1-669a-4916-ab45-365dbc10f580	9dda350d-cbaa-40f9-9e44-733f8dcdea17	g.chr5:36123065_36123066insA	uc003jkb.1	-	8	1238	c.823_splice	c.e8-1	p.C275_splice		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTAGGGCACtaaaaaaaaaaa	0.228													7	45	---	---	---	---					
