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
PAFAH2	5051	broad.mit.edu	37	1	26311003	26311003	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	uc001bld.3	-	5	538	c.358T>C	c.(358-360)TTC>CTC	p.F120L	PAFAH2_uc001ble.3_Missense_Mutation_p.F120L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	120					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.408000													17	5					0	0	0.014323	0	0
CACHD1	57685	broad.mit.edu	37	1	65141193	65141193	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	uc001dbo.1	+	20	2789	c.2684T>C	c.(2683-2685)CTT>CCT	p.L895P	CACHD1_uc001dbp.1_Missense_Mutation_p.L650P|CACHD1_uc001dbq.1_Missense_Mutation_p.L650P|CACHD1_uc010opa.1_Missense_Mutation_p.L139P	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	946	Extracellular (Potential).|Cys-rich.				calcium ion transport	integral to membrane				ovary(2)	2						TGCGACTCTCTTGCCTTCTGT	0.478000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	0.014758	0	0
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	uc001diq.3	-	2	240	c.84C>G	c.(82-84)CTC>CTG	p.L28L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	28	Extracellular (Potential).|EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343000													49	17					0	0	0.014410	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307657	95307657	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	uc001dqv.3	+	8	969	c.862G>A	c.(862-864)GCT>ACT	p.A288T	SLC44A3_uc001dqx.3_Missense_Mutation_p.A288T|SLC44A3_uc010otq.1_Missense_Mutation_p.A220T|SLC44A3_uc010otr.1_Missense_Mutation_p.A252T|SLC44A3_uc001dqw.3_Missense_Mutation_p.A240T|SLC44A3_uc010ots.1_Missense_Mutation_p.A208T|SLC44A3_uc009wds.2_Missense_Mutation_p.A191T|SLC44A3_uc010ott.1_Missense_Mutation_p.A208T|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	288	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448000													12	68					0	0	0.010729	0	0
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:144815953A>G	uc009wig.1	+	12	1400	c.1324A>G	c.(1324-1326)AAT>GAT	p.N442D	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.N442D|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.N102D	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	442	NBPF 2.					cytoplasm					0						CAACGATGACAATGAAGATGT	0.423000													7	200					0	0	0.001984	0	0
FCRL5	83416	broad.mit.edu	37	1	157516858	157516858	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	uc001fqu.2	-	3	340	c.182A>G	c.(181-183)TAC>TGC	p.Y61C	FCRL5_uc009wsm.2_Missense_Mutation_p.Y61C|FCRL5_uc010phv.1_Missense_Mutation_p.Y61C|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.Y61C|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	61	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502000													29	68					0	0	0.012213	0	0
SOAT1	6646	broad.mit.edu	37	1	179316745	179316745	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	uc001gml.2	+	12	1191	c.1128T>G	c.(1126-1128)ATT>ATG	p.I376M	SOAT1_uc010pni.1_Missense_Mutation_p.I311M|SOAT1_uc001gmm.2_Missense_Mutation_p.I318M|SOAT1_uc010pnj.1_Missense_Mutation_p.I112M|SOAT1_uc010pnk.1_Missense_Mutation_p.I311M	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	376	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348000													6	65					0	0	0.001984	0	0
RYR2	6262	broad.mit.edu	37	1	237666709	237666709	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	uc001hyl.1	+	22	2637	c.2517G>T	c.(2515-2517)GAG>GAT	p.E839D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	839	Cytoplasmic (By similarity).				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)			ACAGCCGAGAGTACAAGCAAG	0.507000													16	69					2.35188e-11	2.65535e-11	0.006122	1	0
RET	5979	broad.mit.edu	37	10	43622043	43622043	+	Silent	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	uc001jal.2	+	19	3250	c.3060G>A	c.(3058-3060)GCG>GCA	p.A1020A	RET_uc001jak.1_Silent_p.A1020A|RET_uc010qez.1_Silent_p.A766A	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1020	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCTTGCGGCGTCCACTCCAT	0.552000		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				176	240					0	0	0.014410	0	0
OR4A47	403253	broad.mit.edu	37	11	48511063	48511063	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	uc010rhx.1	+	1	719	c.719C>A	c.(718-720)TCC>TAC	p.S240Y		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ACCTGCAGTTCCCACATGACT	0.413000													13	141					4.3838e-07	4.87089e-07	0.016723	1	0
NELL2	4753	broad.mit.edu	37	12	45000951	45000951	+	Splice_Site	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	uc001rog.2	-	15	2258	c.1663_splice	c.e15+1	p.D555_splice	NELL2_uc001rof.3_Splice_Site_p.D554_splice|NELL2_uc001roh.2_Splice_Site_p.D555_splice|NELL2_uc009zkd.2_Splice_Site_p.D554_splice|NELL2_uc010skz.1_Splice_Site_p.D605_splice|NELL2_uc010sla.1_Splice_Site_p.D578_splice|NELL2_uc001roi.1_Splice_Site_p.D555_splice|NELL2_uc010slb.1_Splice_Site_p.D554_splice	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408000													5	41					0	0	0.001984	0	0
NAB2	4665	broad.mit.edu	37	12	57487218	57487218	+	Silent	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	uc001smz.2	+	6	1683	c.1305G>A	c.(1303-1305)CCG>CCA	p.P435P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GGCTGACGCCGCCCCCTGCTG	0.657000													3	14					0	0	0.009096	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531809	66531809	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	uc001stc.2	-	7	724	c.648C>A	c.(646-648)AGC>AGA	p.S216R	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.S185R|TMBIM4_uc009zqr.2_Missense_Mutation_p.S263R|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	216	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413000													4	129					0.00198382	0.00204217	0.001984	1	0
TMEM19	55266	broad.mit.edu	37	12	72094645	72094645	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	uc001sws.2	+	6	1464	c.881G>A	c.(880-882)AGC>AAC	p.S294N	TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	294						integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413000													8	196					0	0	0.003080	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573832	101573832	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	uc001thz.3	-	10	1598	c.1208C>T	c.(1207-1209)GCG>GTG	p.A403V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	403	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						CATAAGTGACGCCAGCGCAGC	0.443000													63	168					0	0	0.014410	0	0
SRRM4	84530	broad.mit.edu	37	12	119583235	119583235	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	uc001txa.1	+	9	1113	c.821C>T	c.(820-822)CCG>CTG	p.P274L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	274	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						ACAGCCAGCCCGCTCACCACC	0.612000													4	8					0	0	0.014758	0	0
NPAS3	64067	broad.mit.edu	37	14	34269615	34269615	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	uc001wru.2	+	12	2166	c.2102G>A	c.(2101-2103)GGT>GAT	p.G701D	NPAS3_uc001wrs.2_Missense_Mutation_p.G688D|NPAS3_uc001wrt.2_Missense_Mutation_p.G669D|NPAS3_uc001wrv.2_Missense_Mutation_p.G671D	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	701	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.592000													3	54					0	0	0.004672	0	0
ZC3H14	79882	broad.mit.edu	37	14	89044394	89044394	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	uc001xww.2	+	9	1414	c.1189G>A	c.(1189-1191)GAA>AAA	p.E397K	ZC3H14_uc010twd.1_Missense_Mutation_p.E397K|ZC3H14_uc010twe.1_Missense_Mutation_p.E397K|ZC3H14_uc001xwx.2_Missense_Mutation_p.E397K|ZC3H14_uc010twf.1_Missense_Mutation_p.E242K|ZC3H14_uc001xwy.2_Missense_Mutation_p.E363K|ZC3H14_uc010twg.1_Missense_Mutation_p.E242K|ZC3H14_uc001xxa.2_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	397						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						ATTGCTAGCAGAAGTGGTCCA	0.388000													43	62					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409805	105409805	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	uc010axc.1	-	7	12103	c.11983G>A	c.(11983-11985)GCG>ACG	p.A3995T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3895T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTTGGCGCGGTCACATCC	0.612000													118	198					0	0	0.014410	0	0
Unknown	0	broad.mit.edu	37	15	20643888	20643888	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:20643888T>C	uc001ytg.2	-	23	3591	c.2882A>G	c.(2881-2883)GAC>GGC	p.D961G	uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.D961G					RecName: Full=Putative HERC2-like protein 3;																		CGTCCGCATGTCAGAGAACTG	0.498000													48	161					0	0	0.014410	0	0
WASH3P	374666	broad.mit.edu	37	15	102516466	102516466	+	Silent	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:102516466C>G	uc002cdi.2	+	11	2212	c.792C>G	c.(790-792)TCC>TCG	p.S264S	WASH3P_uc002cdl.2_Silent_p.S264S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Silent_p.S264S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	NR_003659				RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;												0						ACTGGGAATCCTAGGGGGCTC	0.642000													4	148					0	0	0.021553	0	0
CCDC135	84229	broad.mit.edu	37	16	57732824	57732824	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	uc002emi.2	+	3	355	c.266C>G	c.(265-267)CCC>CGC	p.P89R	CCDC135_uc002emj.2_Missense_Mutation_p.P89R|CCDC135_uc002emk.2_Missense_Mutation_p.P89R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	89						cytoplasm				central_nervous_system(1)	1						ACCAACACACCCAAGGAGGAA	0.577000													43	227					0	0	0.008740	0	0
Unknown	0	broad.mit.edu	37	17	45127107	45127107	+	Missense_Mutation	SNP	C	G	G	rs147409399	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:45127107C>G	uc010wkj.1	+	2	659	c.305C>G	c.(304-306)ACC>AGC	p.T102S	uc010wkl.1_RNA					SubName: Full=Putative uncharacterized protein LRRC37A3;																		CCTTCGTTCACCCAAGAGCAT	0.592000													4	78					0	0	0.009096	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334813	33334813	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	uc002ntv.3	-	10	1139	c.1022T>A	c.(1021-1023)CTT>CAT	p.L341H	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.L341H|SLC7A9_uc002ntw.3_Missense_Mutation_p.L132H	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	341	Cytoplasmic (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562000													21	30					0	0	0.012319	0	0
CAPNS1	826	broad.mit.edu	37	19	36631958	36631958	+	Silent	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	uc002odj.2	+	2	202	c.45C>G	c.(43-45)GGC>GGG	p.G15G	CAPNS1_uc002odi.1_Silent_p.G15G|CAPNS1_uc002odk.2_Silent_p.G15G|CAPNS1_uc002odl.2_Silent_p.G15G	NM_001749	NP_001740	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.393000													3	17					0	0	0.004672	0	0
CIC	23152	broad.mit.edu	37	19	42795390	42795390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	uc002otf.1	+	10	2510	c.2470C>T	c.(2470-2472)CAG>TAG	p.Q824*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	824	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGGAATCACCCAGGTACAGTA	0.692000			T	DUX4	soft tissue sarcoma								4	16					0	0	0.009096	0	0
PPFIA3	8541	broad.mit.edu	37	19	49651494	49651494	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	uc002pmr.2	+	24	3322	c.2990A>G	c.(2989-2991)AAG>AGG	p.K997R	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.K856R|PPFIA3_uc002pmt.2_Missense_Mutation_p.K136R|PPFIA3_uc002pmu.1_Missense_Mutation_p.K46R	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	997	SAM 2.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582000													19	15					0	0	0.014323	0	0
SF3B14	51639	broad.mit.edu	37	2	24299092	24299092	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:24299092A>T	uc002rev.2	-	1	223	c.8T>A	c.(7-9)ATG>AAG	p.M3K	LOC375190_uc002rew.2_5'Flank|SF3B14_uc010eyb.2_RNA	NM_016047	NP_057131	Q9Y3B4	PM14_HUMAN	splicing factor 3B, 14 kDa subunit	3					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCTTGCATCGCCATCTT	0.567000													61	142					0	0	0.014410	0	0
C2orf28	51374	broad.mit.edu	37	2	27438348	27438348	+	Silent	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27438348G>A	uc002rjf.2	+	4	638	c.465G>A	c.(463-465)CTG>CTA	p.L155L	C2orf28_uc002rjg.2_Silent_p.L42L|C2orf28_uc002rjh.2_5'Flank|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	100	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAGACCTGCAAGCAAACC	0.468000													44	78					0	0	0.014410	0	0
TRIM54	57159	broad.mit.edu	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	uc002rjo.2	+	1	160	c.160G>A	c.(160-162)GTC>ATC	p.V54I	TRIM54_uc002rjn.2_Missense_Mutation_p.V54I	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	54	RING-type.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592000													112	191					0	0	0.014410	0	0
DCAF17	80067	broad.mit.edu	37	2	172337525	172337525	+	Silent	SNP	A	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	uc002ugx.2	+	14	1693	c.1464A>C	c.(1462-1464)CTA>CTC	p.L488L	DCAF17_uc010zdq.1_RNA|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Silent_p.L208L	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	488						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						ACTTGGTGCTACACATAGAGC	0.398000													6	142					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179455636	179455636	+	Silent	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	uc010zfg.1	-	253	53336	c.53112G>A	c.(53110-53112)CCG>CCA	p.P17704P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P11399P|TTN_uc010zfi.1_Silent_p.P11332P|TTN_uc010zfj.1_Silent_p.P11207P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458000													46	103					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179591914	179591914	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	uc010zfg.1	-	66	16670	c.16446G>C	c.(16444-16446)CAG>CAC	p.Q5482H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2143H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448000													21	60					0	0	0.010504	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								48	69					0	0	0.014410	0	0
RSPO4	343637	broad.mit.edu	37	20	944643	944643	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	uc002wej.2	-	4	627	c.530A>G	c.(529-531)GAG>GGG	p.E177G	RSPO4_uc002wek.2_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						GGTGGCTGCCTCCTCATGCCC	0.672000													8	79					0	0	0.004482	0	0
STMN3	50861	broad.mit.edu	37	20	62273610	62273610	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	uc002yfr.1	-	4	416	c.334G>A	c.(334-336)GAG>AAG	p.E112K	STMN3_uc011abb.1_Missense_Mutation_p.E112K	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	112	Potential.				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692000													6	25					0	0	0.008291	0	0
MX2	4600	broad.mit.edu	37	21	42749752	42749752	+	Nonsense_Mutation	SNP	A	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	uc002yzf.1	+	3	390	c.286A>T	c.(286-288)AAG>TAG	p.K96*	MX2_uc011aer.1_RNA	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	96					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627000													27	76					0	0	0.010818	0	0
COL18A1	80781	broad.mit.edu	37	21	46924342	46924342	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	uc011afs.1	+	33	4006	c.3985G>T	c.(3985-3987)GAC>TAC	p.D1329Y	COL18A1_uc002zhg.2_Missense_Mutation_p.D914Y|COL18A1_uc002zhi.2_Missense_Mutation_p.D1094Y|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1329	Triple-helical region 8 (COL8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.562000													3	32					0.000602214	0.000638712	0.014758	1	0
LOC96610	96610	broad.mit.edu	37	22	22663086	22663087	+	RNA	DNP	TA	GG	GG	rs1054157	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663086_22663087TA>GG	uc011aim.1	+	29		c.1859_1860TA>GG			LOC96610_uc011aiq.1_RNA|LOC96610_uc011aip.1_RNA|LOC96610_uc010gto.2_RNA					Parts of antibodies, mostly variable regions.												0						AGCTGCCACATAAGTTGTCCTT	0.302000													5	39					0	0	0.004672	0	0
UCN2	90226	broad.mit.edu	37	3	48600467	48600467	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	uc003cty.1	-	2	169	c.91C>T	c.(91-93)CGC>TGC	p.R31C	PFKFB4_uc011bbm.1_5'Flank	NM_033199	NP_149976	Q96RP3	UCN2_HUMAN	urocortin 2 preproprotein	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632000													3	19					0	0	0.004672	0	0
CEP97	79598	broad.mit.edu	37	3	101446274	101446274	+	Silent	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	uc003dvk.1	+	3	261	c.234G>A	c.(232-234)AAG>AAA	p.K78K	CEP97_uc010hpm.1_Silent_p.K78K|CEP97_uc011bhf.1_Silent_p.K78K|CEP97_uc003dvl.1_5'UTR	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	78	LRR 2.					centrosome|nucleus	protein binding			ovary(2)	2						GTGTGGCCAAGCTGACGTTGC	0.373000													5	160					0	0	0.004482	0	0
LOC348840	348840	broad.mit.edu	37	3	197803880	197803880	+	RNA	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:197803880C>T	uc003fyx.3	-	3		c.475G>A			LOC348840_uc010iat.2_RNA	NR_003291				Homo sapiens hypothetical protein LOC348840, mRNA (cDNA clone IMAGE:5167648), partial cds.												0						TGGCAATATACAGCCTGTCAG	0.368000													3	34					0	0	0.009096	0	0
CMYA5	202333	broad.mit.edu	37	5	79026993	79026993	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	uc003kgc.2	+	2	2477	c.2405C>T	c.(2404-2406)GCA>GTA	p.A802V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	802						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443000													32	71					0	0	0.015359	0	0
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	uc003mwv.2	-	4	638	c.515G>A	c.(514-516)CGA>CAA	p.R172Q	F13A1_uc011dib.1_Missense_Mutation_p.R109Q	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458000													64	118					0	0	0.014410	0	0
STX11	8676	broad.mit.edu	37	6	144507945	144507945	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	uc003qks.3	+	2	373	c.181G>A	c.(181-183)GAC>AAC	p.D61N		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	61	Potential.			D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612000									Familial_Hemophagocytic_Lymphohistiocytosis				9	21					0	0	0.008291	0	0
SHPRH	257218	broad.mit.edu	37	6	146271526	146271526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	uc003qlf.2	-	4	1255	c.856C>T	c.(856-858)CAA>TAA	p.Q286*	SHPRH_uc003qld.2_Nonsense_Mutation_p.Q286*|SHPRH_uc003qle.2_Nonsense_Mutation_p.Q286*|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Nonsense_Mutation_p.Q175*|SHPRH_uc003qlk.1_Nonsense_Mutation_p.Q286*	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	286					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468000													62	147					0	0	0.014410	0	0
TULP4	56995	broad.mit.edu	37	6	158902198	158902198	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	uc003qrf.2	+	8	2720	c.1363G>A	c.(1363-1365)GGC>AGC	p.G455S	TULP4_uc011efo.1_Missense_Mutation_p.G455S|TULP4_uc003qrg.2_Missense_Mutation_p.G455S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	455					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617000													3	65					0	0	0.004672	0	0
FNDC1	84624	broad.mit.edu	37	6	159618496	159618496	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	uc010kjv.2	+	2	343	c.143T>C	c.(142-144)CTG>CCG	p.L48P	FNDC1_uc010kjw.1_5'UTR	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	48	Fibronectin type-III 1.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453000													60	144					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48556330	48556330	+	Silent	SNP	T	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	uc003toq.2	+	52	13675	c.13650T>C	c.(13648-13650)ACT>ACC	p.T4550T	ABCA13_uc010kys.1_Silent_p.T1625T|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.T280T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4550	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GATATGCAACTCTTCCATGGA	0.289000													5	228					0	0	0.001984	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018895	103018895	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	uc003vbz.2	-	17	2019	c.1783G>C	c.(1783-1785)GCA>CCA	p.A595P	SLC26A5_uc003vbt.1_Missense_Mutation_p.A595P|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.A563P|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	595	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CCACTCACTGCTTTGACAACA	0.448000													13	115					0	0	0.016723	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018911	103018911	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	uc003vbz.2	-	17	2003	c.1767C>A	c.(1765-1767)AAC>AAA	p.N589K	SLC26A5_uc003vbt.1_Missense_Mutation_p.N589K|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.N557K|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	589	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CAACAGTTGCGTTGGCCATAT	0.448000													18	150					1.64113e-05	1.76738e-05	0.010504	1	0
COG5	10466	broad.mit.edu	37	7	106851543	106851543	+	Splice_Site	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	uc003ved.2	-	19	2850	c.2325_splice	c.e19+1	p.Q775_splice	COG5_uc003vec.2_Splice_Site_p.Q796_splice|COG5_uc003vee.2_Splice_Site_p.Q796_splice	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform						intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TTATTTATTACCTGGAAAGGA	0.468000													28	67					0	0	0.013726	0	0
GPR85	54329	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	uc010ljv.2	-	2	1415	c.898C>G	c.(898-900)CCC>GCC	p.P300A	GPR85_uc003vgp.1_Missense_Mutation_p.P300A|GPR85_uc003vgq.2_Missense_Mutation_p.P300A|GPR85_uc010ljw.1_Missense_Mutation_p.P300A	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	300	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						ACCAGGTAGGGGCCCCACAAG	0.458000													3	88					0	0	0.009096	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569559	53569559	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	uc003xre.3	-	15	3388	c.2830C>G	c.(2830-2832)CAA>GAA	p.Q944E	RB1CC1_uc003xrf.3_Missense_Mutation_p.Q944E	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	944	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323000													19	39					0	0	0.012319	0	0
DMRT3	58524	broad.mit.edu	37	9	977181	977181	+	Silent	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	uc003zgw.1	+	1	218	c.180C>G	c.(178-180)CTC>CTG	p.L60L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	60	DM.				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667000													4	41					0	0	0.021553	0	0
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	uc004crg.3	-	5	2202	c.2045G>A	c.(2044-2046)CGC>CAC	p.R682H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	682						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532000													24	18					0	0	0.015359	0	0
RS1	6247	broad.mit.edu	37	X	18665417	18665417	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	uc004cyo.2	-	4	255	c.220G>C	c.(220-222)GGG>CGG	p.G74R	CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	74	F5/8 type C.		G -> V (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507000													15	46					0	0	0.028581	0	0
FUBP1	8880	broad.mit.edu	37	1	78432569	78432570	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	uc001dii.2	-	6	502_503	c.413_414insC	c.(412-414)CCTfs	p.P138fs	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Frame_Shift_Ins_p.P159fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	138	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TAACATTACCAGGAGCTATCTG	0.312													30	42	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	-	-	rs78912196		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:60148570delA	uc001jkf.2	+	4	564	c.432delA	c.(430-432)ACAfs	p.T144fs	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AAGCTATGACAAAAAAAAAAG	0.269													7	73	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	A	A	rs56022003		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:89106662_89106663insA	uc001pct.2	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	168	---	---	---	---					
ADAM6	8755	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:106774086_106774087insAGTAATACACGGCA	uc010tyt.1	-	430		c.15674_splice	c.e430+1							Parts of antibodies, mostly variable regions.												0						GCCTCTTGCACGTGTCCTCAGC	0.550													5	7	---	---	---	---					
SLCO3A1	28232	broad.mit.edu	37	15	92663795	92663796	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	uc002bqx.2	+	5	1311_1312	c.1110_1111insT	c.(1108-1113)GCCTTTfs	p.A370fs	SLCO3A1_uc002bqy.2_Frame_Shift_Ins_p.A370fs|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Frame_Shift_Ins_p.A312fs	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	370_371	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCTTCGCTGCCTTTTTGGGGAA	0.584													47	359	---	---	---	---					
APPBP2	10513	broad.mit.edu	37	17	58571849	58571849	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	uc002iys.1	-	3	645	c.357delC	c.(355-357)GCCfs	p.A119fs	APPBP2_uc010ddl.1_Frame_Shift_Del_p.A48fs	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	119					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403													32	78	---	---	---	---					
IGLL1	3543	broad.mit.edu	37	22	23922291	23922293	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	uc002zxd.2	-	1	203_205	c.85_87delCTG	c.(85-87)CTGdel	p.L29del	IGLL1_uc002zxe.2_In_Frame_Del_p.L29del	NM_020070	NP_064455	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1 isoform	29					immune response	extracellular region|membrane					0						CGGCCAGACCCAGCAGCAGCAGG	0.719													3	4	---	---	---	---					
MSH5	4439	broad.mit.edu	37	6	31708253	31708253	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:31708253delT	uc003nwv.1	+	2	89	c.10delT	c.(10-12)TTAfs	p.L4fs	MSH5_uc003nwt.1_Frame_Shift_Del_p.L4fs|MSH5_uc003nwu.1_Frame_Shift_Del_p.L4fs|MSH5_uc003nww.1_Frame_Shift_Del_p.L4fs|MSH5_uc003nwx.1_Frame_Shift_Del_p.L4fs	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	4					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						CATGGCCTCCTTAGGAGCGAA	0.677								Direct_reversal_of_damage|MMR					2	4	---	---	---	---					
ASB6	140459	broad.mit.edu	37	9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	uc004byf.1	-	4	578_579	c.412_413delAG	c.(412-414)AGTfs	p.S138fs	ASB6_uc004bye.1_Frame_Shift_Del_p.S63fs|ASB6_uc004byg.1_Intron|ASB6_uc011mbt.1_Frame_Shift_Del_p.S59fs|ASB6_uc010myx.1_Frame_Shift_Del_p.S138fs	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	138	ANK 3.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624													25	54	---	---	---	---					
