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	ACHILLES_Top_Genes	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
MEGF6	1953	broad.mit.edu	37	1	3428235	3428235	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:3428235G>A	uc001akl.2	-	9	1220	c.993C>T	c.(991-993)ATC>ATT	p.I331I	MEGF6_uc001akk.2_Silent_p.I226I	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	331						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGTTCACGATTTCCATCT	0.627	Ovarian(73;978 3658)		NA											6	60					0	0	0.038147	0	0
CHD5	26038	broad.mit.edu	37	1	6186807	6186807	+	Splice_Site	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:6186807C>T	uc001amb.1	-	26	4004	c.3904_splice	c.e26-1	p.E1302_splice	CHD5_uc001alz.1_Splice_Site_p.E159_splice|CHD5_uc001ama.1_Splice_Site|CHD5_uc001amc.1_Splice_Site|CHD5_uc009vlx.1_Splice_Site	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCACCTCCTCCTGGGGACGCA	0.517			NA											3	39					0	0	0.004672	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783217	9783217	+	Missense_Mutation	SNP	C	C	T	rs140820694		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:9783217C>T	uc001aqb.3	+	20	2669	c.2461C>T	c.(2461-2463)CGC>TGC	p.R821C	PIK3CD_uc010oaf.1_Missense_Mutation_p.R820C|PIK3CD_uc001aqe.3_Missense_Mutation_p.R845C	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	821	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCGGGGACCGCACAGGCCT	0.602			NA											10	239					0	0	0.008291	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835688	12835688	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:12835688G>A	uc001aui.2	+	2	317	c.290G>A	c.(289-291)CGG>CAG	p.R97Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	97										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCACAGGCGGTGGAAACTT	0.517			NA											15	295					0	0	0.028581	0	0
ARID1A	8289	broad.mit.edu	37	1	27106069	27106069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:27106069C>T	uc001bmv.1	+	20	6053	c.5680C>T	c.(5680-5682)CAG>TAG	p.Q1894*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1677*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q740*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q222*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q136*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1894					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACAACAGACCAGGAGGGGCC	0.597			NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								64	68					0	0	0.01441	0	0
AP4B1	10717	broad.mit.edu	37	1	114447405	114447405	+	Translation_Start_Site	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:114447405G>C	uc001eeb.2	-	1	78	c.-65C>G	c.(-67--63)ATCAG>ATGAG		AP4B1_uc001eec.2_Translation_Start_Site|AP4B1_uc001eed.2_Translation_Start_Site|AP4B1_uc010owp.1_Translation_Start_Site|AP4B1_uc010owq.1_Translation_Start_Site|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTCGTCCTGATGTGGGAGC	0.577			NA											7	47					0	0	0.02938	0	0
CD1E	913	broad.mit.edu	37	1	158324373	158324373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:158324373G>T	uc001fse.2	+	2	504	c.265G>T	c.(265-267)GAG>TAG	p.E89*	CD1E_uc010pid.1_Nonsense_Mutation_p.E87*|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsk.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsj.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Nonsense_Mutation_p.E89*|CD1E_uc001fry.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Nonsense_Mutation_p.E89*|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Nonsense_Mutation_p.E89*|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	89					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CAGCAAGCAGGAGCTGAAAAA	0.483			NA											5	37					1.024e-07	1.14726e-07	0.014758	1	0
OR10X1	128367	broad.mit.edu	37	1	158549495	158549495	+	Silent	SNP	A	A	C	rs144602754		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:158549495A>C	uc010pin.1	-	1	195	c.195T>G	c.(193-195)ACT>ACG	p.T65T		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	65	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGTCCACCCAAGTTAGACCCA	0.483			NA											6	81					0	0	0.021553	0	0
IFI16	3428	broad.mit.edu	37	1	159023414	159023414	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:159023414A>C	uc001ftg.2	+	10	2299	c.2009A>C	c.(2008-2010)AAC>ACC	p.N670T	IFI16_uc010pis.1_Missense_Mutation_p.N670T|IFI16_uc001fth.2_Missense_Mutation_p.N213T|IFI16_uc010pit.1_Missense_Mutation_p.N269T	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	726	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					ACCACAATCAACTGTGAGGAA	0.413			NA											8	141					0	0	0.038147	0	0
OR14A16	284532	broad.mit.edu	37	1	247978985	247978985	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:247978985G>C	uc001idm.1	-	1	47	c.47C>G	c.(46-48)TCT>TGT	p.S16C		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTATTGGTAGAAAACCCCAT	0.358	Ovarian(112;180 1586 15073 21914 33526)		NA											4	43					0	0	0.014758	0	0
OR2T10	127069	broad.mit.edu	37	1	248756568	248756568	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:248756568A>C	uc010pzn.1	-	1	502	c.502T>G	c.(502-504)TTC>GTC	p.F168V		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCTGCAGAAGGGGAAGCTC	0.507			NA											10	140					0	0	0.008291	0	0
PCDH15	65217	broad.mit.edu	37	10	55892725	55892725	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr10:55892725A>T	uc001jju.1	-	15	2222	c.1827T>A	c.(1825-1827)AAT>AAA	p.N609K	PCDH15_uc010qhq.1_Missense_Mutation_p.N614K|PCDH15_uc010qhr.1_Missense_Mutation_p.N609K|PCDH15_uc010qhs.1_Missense_Mutation_p.N621K|PCDH15_uc010qht.1_Missense_Mutation_p.N616K|PCDH15_uc010qhu.1_Missense_Mutation_p.N609K|PCDH15_uc001jjv.1_Missense_Mutation_p.N587K|PCDH15_uc010qhv.1_Missense_Mutation_p.N609K|PCDH15_uc010qhw.1_Missense_Mutation_p.N572K|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.N614K|PCDH15_uc010qhz.1_Missense_Mutation_p.N609K|PCDH15_uc010qia.1_Missense_Mutation_p.N587K|PCDH15_uc010qib.1_Missense_Mutation_p.N587K|PCDH15_uc001jjw.2_Missense_Mutation_p.N609K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	609	Cadherin 5.|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)				GGCTTTGATTATTTGGTGGAA	0.413			NA								HNSCC(58;0.16)			8	25					0	0	0.038147	0	0
C10orf27	219793	broad.mit.edu	37	10	72539466	72539466	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr10:72539466C>A	uc001jrj.1	-	5	700	c.310G>T	c.(310-312)GAT>TAT	p.D104Y	C10orf27_uc010qjm.1_Missense_Mutation_p.D104Y|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.D104Y|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.D93Y|C10orf27_uc009xqj.1_Silent_p.G98G|C10orf27_uc010qjp.1_Missense_Mutation_p.D93Y	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph	104					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				skin(1)	1						GCTGGAAAATCCCTGACGACA	0.552			NA											6	36					6.5536e-12	7.41108e-12	0.038147	1	0
OR56A5	390084	broad.mit.edu	37	11	5989432	5989432	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:5989432G>T	uc010qzu.1	-	1	293	c.293C>A	c.(292-294)CCT>CAT	p.P98H		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	olfactory receptor, family 56, subfamily A,	98	Extracellular (Potential).					integral to membrane|plasma membrane	olfactory receptor activity				0						GAAGCAGGCAGGGAAGCTGAT	0.527			NA											4	49					3.59834e-05	3.81929e-05	0.021553	1	0
OR4C11	219429	broad.mit.edu	37	11	55371540	55371540	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:55371540A>T	uc010rii.1	-	1	310	c.310T>A	c.(310-312)TTA>ATA	p.L104I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAGCCAAATAAATGTAGTGCA	0.433			NA											34	336					0	0	0.012213	0	0
OR8I2	120586	broad.mit.edu	37	11	55861485	55861485	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:55861485G>A	uc010rix.1	+	1	702	c.702G>A	c.(700-702)CAG>CAA	p.Q234Q		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					CAGGCAGGCAGAAGGCCTTCT	0.468			NA											13	101					0	0	0.020292	0	0
POLA2	23649	broad.mit.edu	37	11	65064634	65064634	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:65064634A>C	uc001odj.2	+	18	2033	c.1691A>C	c.(1690-1692)AAA>ACA	p.K564T	POLA2_uc001odk.2_Missense_Mutation_p.K261T	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	564					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CGCCTTACCAAAGGGCAGGTG	0.617			NA											32	100					0	0	0.012213	0	0
POLA2	23649	broad.mit.edu	37	11	65064645	65064645	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:65064645G>A	uc001odj.2	+	18	2044	c.1702G>A	c.(1702-1704)GGA>AGA	p.G568R	POLA2_uc001odk.2_Missense_Mutation_p.G265R	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	568					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	AGGGCAGGTGGGAGGCACCTT	0.617			NA											30	88					0	0	0.045705	0	0
CCDC87	55231	broad.mit.edu	37	11	66358974	66358974	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:66358974C>T	uc001oiq.3	-	1	1581	c.1513G>A	c.(1513-1515)GAC>AAC	p.D505N	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	505										ovary(1)|skin(1)	2						TGTAAGTGGTCAGAAGAGACA	0.458			NA											10	145					0	0	0.008291	0	0
ATM	472	broad.mit.edu	37	11	108139190	108139190	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:108139190T>G	uc001pkb.1	+	18	3077	c.2692T>G	c.(2692-2694)TTA>GTA	p.L898V	ATM_uc009yxr.1_Missense_Mutation_p.L898V|ATM_uc009yxs.1_RNA	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	898					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCTACTTTTCTTAGACATGCT	0.373			NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			18	114					0	0	0.043863	0	0
VWA5A	4013	broad.mit.edu	37	11	124013245	124013245	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:124013245G>T	uc001pzu.2	+	17	2329	c.2120G>T	c.(2119-2121)AGT>ATT	p.S707I	VWA5A_uc001pzt.2_Missense_Mutation_p.S707I	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	707										upper_aerodigestive_tract(1)|ovary(1)	2						CTAGGTATGAGTTTGGAAGAA	0.418			NA											5	96					3.59834e-05	3.81929e-05	0.021553	1	0
LOC642846	642846	broad.mit.edu	37	12	9447533	9447533	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:9447533G>A	uc010sgq.1	+	5	614	c.523G>A	c.(523-525)GAA>AAA	p.E175K	LOC642846_uc010sgp.1_RNA|LOC642846_uc009zgn.1_Missense_Mutation_p.E25K|LOC642846_uc001qvo.2_Missense_Mutation_p.E25K					SubName: Full=cDNA FLJ60032, highly similar to Probable ATP-dependent RNA helicase DDX11 (EC 3.6.1.-);												0						GGTCCTCGCCGAATACGAGAG	0.627			NA											2	0					0	0	0.004672	0	0
SP1	6667	broad.mit.edu	37	12	53776134	53776134	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:53776134G>C	uc001scw.2	+	3	500	c.403G>C	c.(403-405)GAG>CAG	p.E135Q	SP1_uc010sog.1_Missense_Mutation_p.E128Q	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	135	Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATGGCAGTGAGTCTTCCAA	0.542			NA											3	50					0	0	0.004672	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741325	81741325	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:81741325C>G	uc001szo.1	-	18	2380	c.2219G>C	c.(2218-2220)GGA>GCA	p.G740A	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	666										ovary(3)|lung(2)|pancreas(1)	6						TGTCATGACTCCCATCCGATC	0.428			NA											9	103					0	0	0.006214	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:113515335T>G	uc001tuk.1	+	2	702	c.366T>G	c.(364-366)GAT>GAG	p.D122E		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CGGCCTACGATATGGACATCT	0.622			NA											3	47					0	0	0.004672	0	0
ZNF664	144348	broad.mit.edu	37	12	124497263	124497263	+	Missense_Mutation	SNP	G	G	C	rs146116095		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:124497263G>C	uc001ufz.2	+	6	2402	c.572G>C	c.(571-573)AGA>ACA	p.R191T	ZNF664_uc001uga.2_Missense_Mutation_p.R191T|ZNF664_uc001ugb.2_Missense_Mutation_p.R191T	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	191	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ATCCACCAGAGAGTCCACACT	0.512			NA											18	87					0	0	0.043863	0	0
EP400	57634	broad.mit.edu	37	12	132508429	132508429	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:132508429A>C	uc001ujn.2	+	23	4833	c.4798A>C	c.(4798-4800)ACC>CCC	p.T1600P	EP400_uc001ujl.2_Missense_Mutation_p.T1599P|EP400_uc001ujm.2_Missense_Mutation_p.T1519P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1636					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCAAGTTCACCCTGTCACA	0.577			NA											4	26					0	0	0.02938	0	0
AKAP6	9472	broad.mit.edu	37	14	33291281	33291281	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:33291281A>T	uc001wrq.2	+	13	4432	c.4262A>T	c.(4261-4263)AAG>ATG	p.K1421M		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1421					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAAGCATTAAGCTTCCAAAT	0.418	Melanoma(49;821 1200 7288 13647 42351)		NA											12	49					0	0	0.016723	0	0
KIAA1409	57578	broad.mit.edu	37	14	94088785	94088785	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:94088785T>C	uc001ybv.1	+	28	4824	c.4741T>C	c.(4741-4743)TCC>CCC	p.S1581P	KIAA1409_uc001ybs.1_Missense_Mutation_p.S1559P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1736						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GCCAGAGTTCTCCTGCGGTAG	0.557			NA											20	80					0	0	0.010504	0	0
IL32	9235	broad.mit.edu	37	16	3119263	3119263	+	Silent	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:3119263C>G	uc002cto.2	+	6	823	c.612C>G	c.(610-612)CTC>CTG	p.L204L	IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L138L|IL32_uc010btb.2_Silent_p.L148L|IL32_uc002ctl.2_Silent_p.L158L|IL32_uc002ctm.2_Silent_p.L158L|IL32_uc002ctn.2_Silent_p.L158L|IL32_uc002cts.3_Silent_p.L158L|IL32_uc002ctp.2_Silent_p.L138L|IL32_uc002ctq.2_Silent_p.L204L|IL32_uc002ctr.2_Silent_p.L138L|IL32_uc002ctt.2_Silent_p.L158L|IL32_uc010uwr.1_Silent_p.L118L|IL32_uc002ctu.2_Silent_p.L149L	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	204					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						TGTCAGAGCTCTTCATGTCCT	0.567			NA											63	122					0	0	0.01441	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057380	5057380	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:5057380C>T	uc002cye.2	+	13	1645	c.1465C>T	c.(1465-1467)CCC>TCC	p.P489S		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	489						integral to membrane|intracellular	transporter activity				0						AGGGCTGGTCCCCAAGTCCCT	0.617			NA											3	32					0	0	0.004672	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272339	11272339	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:11272339C>G	uc002dao.2	+	24	3184	c.2954C>G	c.(2953-2955)CCT>CGT	p.P985R	CLEC16A_uc002dap.2_Missense_Mutation_p.P72R	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	985										ovary(1)|central_nervous_system(1)	2						AGCCTCGTCCCTGCCCGGCAG	0.637			NA											8	117					0	0	0.004482	0	0
RBBP6	5930	broad.mit.edu	37	16	24580583	24580583	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:24580583G>A	uc002dmh.2	+	17	3612	c.2572G>A	c.(2572-2574)GAG>AAG	p.E858K	RBBP6_uc010vcb.1_Missense_Mutation_p.E725K|RBBP6_uc002dmi.2_Missense_Mutation_p.E824K|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.E691K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	858					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		AGCAAATAGAGAGAACTTTTC	0.428			NA											11	97					0	0	0.020292	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640151	27640151	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:27640151G>T	uc002dow.2	+	4	334	c.310G>T	c.(310-312)GAT>TAT	p.D104Y		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	104										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GGGGACACACGGTGAGCACAG	0.398			NA											12	103					0.000151284	0.000157805	0.016723	1	0
ZNF423	23090	broad.mit.edu	37	16	49669988	49669988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:49669988G>T	uc002efs.2	-	5	3373	c.3075C>A	c.(3073-3075)TGC>TGA	p.C1025*	ZNF423_uc010vgn.1_Nonsense_Mutation_p.C908*	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1025	C2H2-type 24.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CTGTCTGCATGCAGACCACAC	0.602			NA											12	25					1.08611e-07	1.19472e-07	0.010729	1	0
TP53	7157	broad.mit.edu	37	17	7578392	7578392	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:7578392C>T	uc002gim.2	-	5	732	c.538G>A	c.(538-540)GAG>AAG	p.E180K	TP53_uc002gig.1_Missense_Mutation_p.E180K|TP53_uc002gih.2_Missense_Mutation_p.E180K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E48K|TP53_uc010cng.1_Missense_Mutation_p.E48K|TP53_uc002gii.1_Missense_Mutation_p.E48K|TP53_uc010cnh.1_Missense_Mutation_p.E180K|TP53_uc010cni.1_Missense_Mutation_p.E180K|TP53_uc002gij.2_Missense_Mutation_p.E180K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E87K|TP53_uc002gio.2_Missense_Mutation_p.E48K|TP53_uc010vug.1_Missense_Mutation_p.E141K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	180	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> Q (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E180*(13)|p.P177_C182delPHHERC(8)|p.0?(7)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.E180D(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.E180_S183del(1)|p.V173fs*23(1)|p.E180fs*67(1)|p.V172_E180delVVRRCPHHE(1)|p.E180G(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGCAGCGCTCATGGTGGGGG	0.637	Pancreas(47;798 1329 9957 10801)		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	23					0	0	0.012319	0	0
MYH8	4626	broad.mit.edu	37	17	10317241	10317241	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:10317241T>C	uc002gmm.2	-	12	1220	c.1125A>G	c.(1123-1125)CAA>CAG	p.Q375Q	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	375	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CTGGCTCAGCTTGCTCCTCAC	0.413			NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				28	149					0	0	0.034045	0	0
KRT14	3861	broad.mit.edu	37	17	39742987	39742987	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:39742987C>T	uc002hxf.1	-	1	161	c.100G>A	c.(100-102)GTC>ATC	p.V34I	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.V34I	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	34	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				CCGGCCAGGACGGAGGAGATG	0.602			NA											4	5					0	0	0.014758	0	0
NOG	9241	broad.mit.edu	37	17	54672168	54672168	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:54672168C>T	uc002iup.2	+	1	1109	c.584C>T	c.(583-585)TCC>TTC	p.S195F		NM_005450	NP_005441	Q13253	NOGG_HUMAN	noggin precursor	195					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity				0	Breast(9;5.24e-08)					TGCAAGCCGTCCAAGTCCGTG	0.667			NA											4	22					0	0	0.014758	0	0
ABCA5	23461	broad.mit.edu	37	17	67280103	67280103	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:67280103C>A	uc002jif.2	-	17	3601	c.2383G>T	c.(2383-2385)GAC>TAC	p.D795Y	ABCA5_uc002jic.2_Missense_Mutation_p.D18Y|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.D795Y|ABCA5_uc002jih.2_Missense_Mutation_p.D795Y|ABCA5_uc010dfe.2_Missense_Mutation_p.D795Y	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	795					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					CCTGCTTGGTCAATTTCTGCT	0.308			NA											10	37					2.17888e-05	2.35397e-05	0.006214	1	0
C18orf34	374864	broad.mit.edu	37	18	30926360	30926360	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr18:30926360T>C	uc002kxn.2	-	8	615	c.473A>G	c.(472-474)GAG>GGG	p.E158G	C18orf34_uc010xbr.1_Missense_Mutation_p.E158G|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E158G|C18orf34_uc002kxp.2_Missense_Mutation_p.E158G	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	158	Potential.									ovary(1)	1						CTGCTTTAACTCTGGACACTT	0.368			NA											3	57					0	0	0.009096	0	0
NWD1	284434	broad.mit.edu	37	19	16899898	16899898	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:16899898T>G	uc002neu.3	+	13	3259	c.2837T>G	c.(2836-2838)TTT>TGT	p.F946C	NWD1_uc002net.3_Missense_Mutation_p.F811C|NWD1_uc002nev.3_Missense_Mutation_p.F740C			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	946	WD 3.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CAGGAGAAATTTACCATTTGG	0.473			NA											4	43					0	0	0.009096	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922564	48922564	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:48922564C>T	uc002pjc.3	+	8	1897	c.1809C>T	c.(1807-1809)ATC>ATT	p.I603I	GRIN2D_uc010elx.2_5'UTR	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	603	Helical; (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGTTTTCATCTTCGAGTACC	0.607			NA											16	29					0	0	0.028581	0	0
FPR1	2357	broad.mit.edu	37	19	52249869	52249869	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:52249869C>T	uc002pxq.2	-	2	474	c.379G>A	c.(379-381)GTC>ATC	p.V127I		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	127	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGATGCAGGACGCAAACACAG	0.557			NA											19	58					0	0	0.038395	0	0
ZNF677	342926	broad.mit.edu	37	19	53741643	53741643	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:53741643C>G	uc002qbf.1	-	5	522	c.337G>C	c.(337-339)GAT>CAT	p.D113H	ZNF677_uc002qbg.1_Missense_Mutation_p.D113H	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TTTTTTACATCATAGTCCCAC	0.348			NA											4	103					0	0	0.014758	0	0
ZNF547	284306	broad.mit.edu	37	19	57883181	57883181	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:57883181A>G	uc002qol.2	+	3	249	c.56A>G	c.(55-57)TAT>TGT	p.Y19C	ZNF547_uc010ygx.1_Missense_Mutation_p.Y19C	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGCCATATATTTCTCCCAG	0.438			NA											12	212					0	0	0.013537	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554445	85554445	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:85554445G>A	uc010fgd.1	-	2	699	c.410C>T	c.(409-411)ACT>ATT	p.T137I	TGOLN2_uc002soz.2_Missense_Mutation_p.T137I|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.T137I|TGOLN2_uc002spc.1_Missense_Mutation_p.T137I	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	137	Extracellular (Potential).|14 X 14 AA tandem repeats.|6.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CGATTTGCCAGTGCTGTCTTT	0.577			NA											17	575					0	0	0.028581	0	0
LCT	3938	broad.mit.edu	37	2	136590758	136590758	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:136590758C>T	uc002tuu.1	-	2	654	c.643G>A	c.(643-645)GGA>AGA	p.G215R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	215	Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAGTTTTCCGCCTGAAACC	0.532			NA											6	104					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179611703	179611703	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:179611703C>T	uc002unb.2	-	46	15648	c.15424G>A	c.(15424-15426)GGT>AGT	p.G5142S	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTGTACCGTCTTCCCTT	0.438			NA											10	119					0	0	0.006214	0	0
AGXT	189	broad.mit.edu	37	2	241815373	241815373	+	Silent	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:241815373C>G	uc002waa.3	+	8	919	c.798C>G	c.(796-798)GTC>GTG	p.V266V	AGXT_uc002wab.3_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	266					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAATCCCCGTCATCAGCCTGT	0.617			NA											7	30					0	0	0.006214	0	0
RALY	22913	broad.mit.edu	37	20	32659989	32659989	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32659989G>C	uc002xab.2	+	3	407	c.109G>C	c.(109-111)GAT>CAT	p.D37H	RALY_uc010zui.1_Missense_Mutation_p.D37H|RALY_uc002xac.2_Missense_Mutation_p.D37H|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D37H	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	37	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						GAAGAAATCAGATGTGGAGAC	0.507			NA											5	74					0	0	0.014758	0	0
RALY	22913	broad.mit.edu	37	20	32659995	32659995	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32659995G>A	uc002xab.2	+	3	413	c.115G>A	c.(115-117)GAG>AAG	p.E39K	RALY_uc010zui.1_Missense_Mutation_p.E39K|RALY_uc002xac.2_Missense_Mutation_p.E39K|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.E39K	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	39	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						ATCAGATGTGGAGACCATCTT	0.507			NA											6	70					0	0	0.021553	0	0
EIF2S2	8894	broad.mit.edu	37	20	32684606	32684606	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32684606C>T	uc002xaf.2	-	6	709	c.540G>A	c.(538-540)CTG>CTA	p.L180L	EIF2S2_uc002xag.2_Silent_p.L177L|EIF2S2_uc010ges.2_Silent_p.L120L	NM_003908	NP_003899	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2 beta	180						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			large_intestine(1)	1						ACACTCGATTCAGCAGCTATA	0.403			NA											6	183					0	0	0.008291	0	0
PTPRT	11122	broad.mit.edu	37	20	40747110	40747110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:40747110C>T	uc002xkg.2	-	21	3099	c.2915G>A	c.(2914-2916)TGG>TAG	p.W972*	PTPRT_uc010ggj.2_Nonsense_Mutation_p.W991*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.W175*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	972	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATCATTCTCCAAAAGTCCTT	0.547			NA											5	98					0	0	0.021553	0	0
PIGT	51604	broad.mit.edu	37	20	44052918	44052918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:44052918C>T	uc002xoh.1	+	10	1370	c.1297C>T	c.(1297-1299)CAG>TAG	p.Q433*	PIGT_uc010ghf.1_Nonsense_Mutation_p.Q386*|PIGT_uc002xoj.1_Nonsense_Mutation_p.Q366*|PIGT_uc002xok.1_Nonsense_Mutation_p.Q398*|PIGT_uc010zwu.1_Nonsense_Mutation_p.Q171*|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Nonsense_Mutation_p.Q171*|PIGT_uc010zww.1_Nonsense_Mutation_p.Q377*|PIGT_uc010zwx.1_Nonsense_Mutation_p.Q268*|PIGT_uc010zwy.1_Nonsense_Mutation_p.Q331*|PIGT_uc010zwz.1_Nonsense_Mutation_p.Q171*|PIGT_uc010zxa.1_Nonsense_Mutation_p.Q271*|PIGT_uc002xol.1_Nonsense_Mutation_p.Q222*|PIGT_uc010zxb.1_Nonsense_Mutation_p.Q109*|PIGT_uc002xom.1_Nonsense_Mutation_p.Q25*	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	433	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GATGCTGATTCAGCTGCCGGC	0.572			NA											5	70					0	0	0.014758	0	0
PIGT	51604	broad.mit.edu	37	20	44053148	44053148	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:44053148C>T	uc002xoh.1	+	11	1486	c.1413C>T	c.(1411-1413)CTC>CTT	p.L471L	PIGT_uc002xoj.1_Silent_p.L404L|PIGT_uc002xok.1_Silent_p.L436L|PIGT_uc010zwu.1_Silent_p.L209L|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.L209L|PIGT_uc010zww.1_Silent_p.L415L|PIGT_uc010zwx.1_Silent_p.L306L|PIGT_uc010zwy.1_Silent_p.L369L|PIGT_uc010zwz.1_Silent_p.L209L|PIGT_uc010zxa.1_Silent_p.L309L|PIGT_uc002xol.1_Silent_p.L260L|PIGT_uc010zxb.1_Silent_p.L147L|PIGT_uc002xom.1_Silent_p.L63L	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	471	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				CATCTGTCCTCAGCGCCCTTG	0.567			NA											9	63					0	0	0.006214	0	0
TTC3	7267	broad.mit.edu	37	21	38533142	38533142	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr21:38533142G>T	uc002yvz.2	+	30	3183	c.3078G>T	c.(3076-3078)AAG>AAT	p.K1026N	TTC3_uc011aee.1_Missense_Mutation_p.K716N|TTC3_uc002ywa.2_Missense_Mutation_p.K1026N|TTC3_uc002ywb.2_Missense_Mutation_p.K1026N|TTC3_uc010gnf.2_Missense_Mutation_p.K791N|TTC3_uc002ywc.2_Missense_Mutation_p.K716N|TTC3_uc002ywd.1_Missense_Mutation_p.K90N	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1026	Arg/Lys-rich (basic).|Poly-Lys.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GCAAGAAAAAGAAGCCAAAGG	0.318	Ovarian(38;194 1649 35661)		NA											7	47					1.06961e-07	1.18737e-07	0.038147	1	0
UFD1L	7353	broad.mit.edu	37	22	19455447	19455447	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr22:19455447T>C	uc002zpm.2	-	5	501	c.371A>G	c.(370-372)AAA>AGA	p.K124R	UFD1L_uc002zpo.2_Missense_Mutation_p.K124R|UFD1L_uc011agy.1_Missense_Mutation_p.K124R|UFD1L_uc002zpp.2_Missense_Mutation_p.K77R|UFD1L_uc010grq.2_Missense_Mutation_p.K77R	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	124					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					AGGTTGGAATTTGGAGTAGGT	0.498			NA											8	110					0	0	0.006214	0	0
NEFH	4744	broad.mit.edu	37	22	29879474	29879474	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr22:29879474C>G	uc003afo.2	+	2	1065	c.994C>G	c.(994-996)CTG>GTG	p.L332V		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	332	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0						GACCACAGAGCTGGAGGCACT	0.622			NA											21	71					0	0	0.010504	0	0
FANCD2	2177	broad.mit.edu	37	3	10103867	10103867	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:10103867C>G	uc003buw.2	+	20	1877	c.1799C>G	c.(1798-1800)GCC>GGC	p.A600G	FANCD2_uc003bux.1_Missense_Mutation_p.A600G|FANCD2_uc003buy.1_Missense_Mutation_p.A600G|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	600					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAAGAGAGAGCCAACCTGAGC	0.204			NA	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	FanconAnemia				8	21					0	0	0.008291	0	0
SNRK	54861	broad.mit.edu	37	3	43389775	43389775	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:43389775C>T	uc003cms.3	+	7	2356	c.2024C>T	c.(2023-2025)TCC>TTC	p.S675F	SNRK_uc003cmt.3_Missense_Mutation_p.S675F|SNRK_uc010hik.2_Missense_Mutation_p.S675F|SNRK_uc011azr.1_Missense_Mutation_p.S469F	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	675					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTCATTTTCCAGTGTGAAA	0.498			NA											10	48					0	0	0.010504	0	0
NPHP3	27031	broad.mit.edu	37	3	132434047	132434047	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:132434047G>A	uc003epe.1	-	5	916	c.839C>T	c.(838-840)GCT>GTT	p.A280V	NPHP3_uc003epf.1_Missense_Mutation_p.A35V	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	280					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						ACTAGCTACAGCAATATCCCA	0.333			NA											5	65					0	0	0.014758	0	0
HPS3	84343	broad.mit.edu	37	3	148858052	148858052	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:148858052G>C	uc003ewu.1	+	2	619	c.479G>C	c.(478-480)AGT>ACT	p.S160T	HPS3_uc003ewt.1_Missense_Mutation_p.S160T|HPS3_uc011bnq.1_Intron	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	160						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCTTATTTAGTTTGAAGTAC	0.378			NA							Hermansky-Pudlak_syndrome				42	47					0	0	0.042209	0	0
GPR125	166647	broad.mit.edu	37	4	22394281	22394281	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:22394281G>A	uc003gqm.1	-	17	2779	c.2514C>T	c.(2512-2514)GCC>GCT	p.A838A	GPR125_uc010ieo.1_Silent_p.A694A|GPR125_uc003gql.1_5'UTR	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	838	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				ATAGTACTGTGGCAAGGGTGG	0.388			NA											4	81					0	0	0.014758	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984513	41984513	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:41984513C>T	uc003gwk.2	+	1	801	c.704C>T	c.(703-705)ACG>ATG	p.T235M		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	235										skin(1)	1						TTTGCTAGTACGGCTCCTTTG	0.562			NA											24	149					0	0	0.027356	0	0
UNC5C	8633	broad.mit.edu	37	4	96166259	96166259	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:96166259A>G	uc003htp.1	-	6	966	c.812T>C	c.(811-813)GTG>GCG	p.V271A	UNC5C_uc010ilc.1_Missense_Mutation_p.V271A|UNC5C_uc003htq.2_Missense_Mutation_p.V271A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	271	Extracellular (Potential).|TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTGTTACACACAGACCACTC	0.527			NA											3	44					0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134084247	134084247	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:134084247C>A	uc003iha.2	+	4	3739	c.2913C>A	c.(2911-2913)AGC>AGA	p.S971R		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	971	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTATCGCAGCAATCTGCATG	0.537			NA											25	73					0.000375601	0.000388442	0.016522	1	0
CLDN22	53842	broad.mit.edu	37	4	184241270	184241270	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:184241270C>G	uc010isa.1	-	1	658	c.102G>C	c.(100-102)AAG>AAC	p.K34N	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	34	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGTTGAGGTTCTTCCAGTGTG	0.443			NA											7	122					0	0	0.02938	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257099	140257099	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr5:140257099G>A	uc003lic.2	+	1	2169	c.2042G>A	c.(2041-2043)CGG>CAG	p.R681Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R681Q	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	681	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTCGTCGCGGGCCTCAGTG	0.652	Pancreas(113;759 1672 13322 24104 50104)		NA											3	47					0	0	0.009096	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179292299	179292299	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr5:179292299T>C	uc003mlh.2	-	21	3064	c.3027A>G	c.(3025-3027)AAA>AAG	p.K1009K	TBC1D9B_uc003mli.2_Silent_p.K992K|TBC1D9B_uc003mlj.2_Silent_p.K991K|TBC1D9B_uc003mlf.2_Silent_p.K83K|TBC1D9B_uc003mlg.2_Silent_p.K168K|TBC1D9B_uc011dgv.1_Silent_p.K168K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1009						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTCTTTCTCCTTGG	0.507			NA											14	92					0	0	0.016723	0	0
F13A1	2162	broad.mit.edu	37	6	6145903	6145903	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:6145903T>C	uc003mwv.2	-	15	2271	c.2148A>G	c.(2146-2148)AGA>AGG	p.R716R	F13A1_uc011dib.1_3'UTR	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	716					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			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)	CATACACATGTCTCAGGGAGT	0.552			NA											13	69					0	0	0.020292	0	0
TBC1D7	51256	broad.mit.edu	37	6	13306666	13306666	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:13306666C>T	uc003naj.2	-	7	850	c.759G>A	c.(757-759)CTG>CTA	p.L253L	TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Silent_p.L253L|TBC1D7_uc003nal.2_Silent_p.L253L|TBC1D7_uc003nam.2_Silent_p.L253L|TBC1D7_uc003nao.2_Silent_p.L226L|TBC1D7_uc010jpd.2_Silent_p.L207L|TBC1D7_uc003nap.2_3'UTR	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	253					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGCACTGTTCAGTGCCATAA	0.338			NA											4	45					0	0	0.009096	0	0
BRD2	6046	broad.mit.edu	37	6	32944128	32944128	+	Missense_Mutation	SNP	C	C	T	rs176250	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:32944128C>T	uc003ocn.3	+	6	2413	c.712C>T	c.(712-714)CTC>TTC	p.L238F	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.L238F|BRD2_uc003ocp.3_Missense_Mutation_p.L118F|BRD2_uc010juh.2_Missense_Mutation_p.L238F	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	238					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TACCACTGTCCTCAACATTCC	0.567			NA											5	100					0	0	0.02938	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762216	130762216	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:130762216C>T	uc003qca.2	+	3	1520	c.649C>T	c.(649-651)CGG>TGG	p.R217W	TMEM200A_uc010kfh.2_Missense_Mutation_p.R217W|TMEM200A_uc010kfi.2_Missense_Mutation_p.R217W|TMEM200A_uc003qcb.2_Missense_Mutation_p.R217W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	217	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTCGGGTTTTCGGAGCAGTTT	0.478			NA											11	37					0	0	0.010729	0	0
GPR126	57211	broad.mit.edu	37	6	142732479	142732479	+	Silent	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:142732479A>T	uc010khc.2	+	18	2883	c.2472A>T	c.(2470-2472)GCA>GCT	p.A824A	GPR126_uc010khd.2_Silent_p.A796A|GPR126_uc010khe.2_Silent_p.A824A|GPR126_uc010khf.2_Silent_p.A796A	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	824	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GATGTGTTGCACACAGAGATT	0.428			NA											19	126					0	0	0.010504	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr7:55259515T>G	uc003tqk.2	+	21	2819	c.2573T>G	c.(2572-2574)CTG>CGG	p.L858R	EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	858	Cytoplasmic (Potential).|Protein kinase.		L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537		L858R(NCIH1975_LUNG)	8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	75					0	0	0.025465	0	0
NCAPG2	54892	broad.mit.edu	37	7	158447365	158447365	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr7:158447365C>G	uc003wnv.1	-	22	2813	c.2668G>C	c.(2668-2670)GAT>CAT	p.D890H	NCAPG2_uc010lqu.1_Missense_Mutation_p.D682H|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D890H|NCAPG2_uc011kwe.1_Missense_Mutation_p.D890H|NCAPG2_uc011kwc.1_Missense_Mutation_p.D391H|NCAPG2_uc011kwd.1_Missense_Mutation_p.D333H	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	890					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATAACAACATCTTTACACACA	0.438			NA											18	104					0	0	0.038395	0	0
HR	55806	broad.mit.edu	37	8	21977361	21977361	+	Silent	SNP	G	G	A	rs144482432	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:21977361G>A	uc003xas.2	-	14	3554	c.2889C>T	c.(2887-2889)TGC>TGT	p.C963C	HR_uc003xat.2_Silent_p.C963C	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	963	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CATGGAGGGCGCAGTACTCCG	0.637			NA											3	45					0	0	0.014758	0	0
HOOK3	84376	broad.mit.edu	37	8	42828457	42828457	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:42828457C>G	uc003xpr.2	+	12	1390	c.1148C>G	c.(1147-1149)TCC>TGC	p.S383C	HOOK3_uc010lxq.1_Missense_Mutation_p.S383C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	383	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AACAGATTATCCGAAGAATCA	0.294			NA	T	RET	papillary thyroid								8	51					0	0	0.004482	0	0
RB1CC1	9821	broad.mit.edu	37	8	53588991	53588991	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:53588991C>T	uc003xre.3	-	6	1068	c.510G>A	c.(508-510)AAG>AAA	p.K170K	RB1CC1_uc003xrf.3_Silent_p.K170K	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	170					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)				TACTTTCAAACTTGAAAAGTA	0.343	GBM(180;1701 2102 13475 42023 52570)		NA											6	43					0	0	0.02938	0	0
EYA1	2138	broad.mit.edu	37	8	72267066	72267066	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:72267066G>A	uc003xys.3	-	2	362	c.75C>T	c.(73-75)CTC>CTT	p.L25L	EYA1_uc003xyr.3_Silent_p.L25L|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Silent_p.L25L|EYA1_uc011lfe.1_Silent_p.L25L|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	25					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAGAGTTACCGAGTTTGGGGC	0.463			NA											28	134					0	0	0.027356	0	0
UBR5	51366	broad.mit.edu	37	8	103287796	103287796	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:103287796C>T	uc003ykr.1	-	47	6715	c.6682G>A	c.(6682-6684)GAA>AAA	p.E2228K	UBR5_uc003yks.1_Missense_Mutation_p.E2228K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2228					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTTCCATTTCTCTGCGGAAT	0.284	Ovarian(131;96 1741 5634 7352 27489)		NA											7	32					0	0	0.038147	0	0
RORB	6096	broad.mit.edu	37	9	77277459	77277459	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:77277459G>C	uc004aji.2	+	6	911	c.862G>C	c.(862-864)GCA>CCA	p.A288P	RORB_uc004ajh.2_Missense_Mutation_p.A277P	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	288	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GGTGGAGTTTGCAAAGCGGAT	0.448			NA											22	75					0	0	0.014323	0	0
TSTD2	158427	broad.mit.edu	37	9	100388080	100388080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:100388080G>C	uc004axn.2	-	3	853	c.365C>G	c.(364-366)TCA>TGA	p.S122*	TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	122										ovary(2)	2						AAGACTCTTTGAGGTGCTCAA	0.433			NA											6	102					0	0	0.02938	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900299	101900299	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:101900299G>A	uc004azc.2	+	4	809	c.733G>A	c.(733-735)GAG>AAG	p.E245K	TGFBR1_uc004azd.2_Missense_Mutation_p.E168K|TGFBR1_uc011lvc.1_Missense_Mutation_p.E176K	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	245	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				GTGGTTCCGTGAGGCAGAGAT	0.413			NA											13	58					0	0	0.013537	0	0
C9orf6	54942	broad.mit.edu	37	9	111701692	111701692	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:111701692G>A	uc004bdn.2	+	5	460	c.366G>A	c.(364-366)GTG>GTA	p.V122V	C9orf6_uc010mtr.2_RNA	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	122					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)		TGATGGAAGTGAATGAAAACA	0.274			NA											3	19					0	0	0.004672	0	0
MSL3	10943	broad.mit.edu	37	X	11778598	11778598	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:11778598A>C	uc004cuw.2	+	3	367	c.262A>C	c.(262-264)AGA>CGA	p.R88R	MSL3_uc004cuv.1_Silent_p.R88R|MSL3_uc004cux.2_Silent_p.R29R|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Silent_p.R76R|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	88	Chromo.				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TAAATTGGCAAGAAAAGCTGT	0.328			NA											6	117					0	0	0.021553	0	0
GPR64	10149	broad.mit.edu	37	X	19051731	19051731	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:19051731C>T	uc004cyx.2	-	8	468	c.304G>A	c.(304-306)GGC>AGC	p.G102S	GPR64_uc004cyy.2_Missense_Mutation_p.G99S|GPR64_uc004cyz.2_Intron|GPR64_uc004czb.2_Missense_Mutation_p.G102S|GPR64_uc004czc.2_Missense_Mutation_p.G86S|GPR64_uc004czd.2_Missense_Mutation_p.G78S|GPR64_uc004cze.2_Intron|GPR64_uc004czf.2_Intron|GPR64_uc004cza.2_Intron|GPR64_uc004cyw.2_Missense_Mutation_p.G86S|GPR64_uc010nfj.2_Intron	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	102	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TAAGTCATACCTGATGCATTG	0.239			NA											15	45					0	0	0.0333	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411590	23411590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:23411590A>C	uc004dal.3	+	3	1963	c.1955A>C	c.(1954-1956)AAG>ACG	p.K652T		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	652					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TTGGTGGCCAAGACCATGGAA	0.428			NA											6	135					0	0	0.021553	0	0
GPR34	2857	broad.mit.edu	37	X	41555242	41555242	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:41555242A>G	uc004dfp.3	+	3	640	c.356A>G	c.(355-357)AAG>AGG	p.K119R	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.K119R|GPR34_uc010nhg.2_Missense_Mutation_p.K119R|GPR34_uc004dfr.3_Missense_Mutation_p.K119R	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	119	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						AACCAAAACAAGTGGACACTA	0.378			NA											17	358					0	0	0.012319	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376205	50376205	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:50376205A>C	uc004dpe.2	-	4	2894	c.2868T>G	c.(2866-2868)ACT>ACG	p.T956T	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.T840T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	956					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					TGGGTTTCCAAGTGTTGCCAG	0.498			NA											21	26					0	0	0.016522	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479158	55479158	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:55479158G>C	uc004dum.2	+	1	621	c.351G>C	c.(349-351)AAG>AAC	p.K117N		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	117	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGCTGGGGAAGTTAGGAATGC	0.498			NA											4	102					0	0	0.009096	0	0
FAM123B	139285	broad.mit.edu	37	X	63412533	63412533	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:63412533G>A	uc004dvo.2	-	2	907	c.634C>T	c.(634-636)CCT>TCT	p.P212S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	212					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGCACCTGAGGGGCTGAGCTC	0.592			NA											6	113					0	0	0.021553	0	0
BTK	695	broad.mit.edu	37	X	100611180	100611180	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:100611180A>T	uc004ehg.2	-	15	1619	c.1426T>A	c.(1426-1428)TAC>AAC	p.Y476N	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.Y46N|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.Y510N|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.Y476N	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	476	Protein kinase.		Y -> D (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TTGGCCATGTACTCAGTGATG	0.532			NA							Agammaglobulinemia_X-linked				31	64					0	0	0.041601	0	0
AMOT	154796	broad.mit.edu	37	X	112035062	112035062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:112035062G>A	uc004epr.2	-	6	1924	c.1924C>T	c.(1924-1926)CAG>TAG	p.Q642*	AMOT_uc004eps.2_Nonsense_Mutation_p.Q233*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	642	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCCATACCTGCTGGATTCTC	0.448			NA											44	136					0	0	0.01441	0	0
BCORL1	63035	broad.mit.edu	37	X	129159037	129159037	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:129159037A>G	uc004evb.1	+	7	3875	c.3761A>G	c.(3760-3762)GAA>GGA	p.E1254G	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.E16G	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1254					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCCACAGAAGAAGAAGAGGAG	0.557			NA											20	241					0	0	0.043863	0	0
DKC1	1736	broad.mit.edu	37	X	153994220	153994220	+	Silent	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:153994220A>G	uc004fmm.2	+	4	420	c.210A>G	c.(208-210)ACA>ACG	p.T70T	DKC1_uc010nvf.2_Silent_p.T70T|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	70					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACACTATACACCTCTTGCAT	0.388			NA							Congenital_Dyskeratosis				8	177					0	0	0.038147	0	0
F8	2157	broad.mit.edu	37	X	154133104	154133104	+	Nonsense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:154133104A>C	uc004fmt.2	-	16	5739	c.5568T>G	c.(5566-5568)TAT>TAG	p.Y1856*	F8_uc010nvi.1_Nonsense_Mutation_p.Y15*	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1856	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATCAGAGAAATAAGCCCAGG	0.348			NA											13	123					0	0	0.016723	0	0
KDM4A	9682	broad.mit.edu	37	1	44133491	44133493	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:44133491_44133493delAGA	uc001cjx.2	+	9	1130_1132	c.964_966delAGA	c.(964-966)AGAdel	p.R322del	KDM4A_uc010oki.1_In_Frame_Del_p.R322del	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	322					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TGTGTTTGTGAGAAAGTTCCAGC	0.483			NA											20	80	---	---	---	---	NA	NA	NA	NA	NA
IRF2BP2	359948	broad.mit.edu	37	1	234743032	234743034	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:234743032_234743034delTGA	uc001hwg.2	-	2	1644_1646	c.1613_1615delTCA	c.(1612-1617)ATCAAA>AAA	p.I538del	IRF2BP2_uc009xfw.2_In_Frame_Del_p.I148del|IRF2BP2_uc001hwf.2_In_Frame_Del_p.I522del	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	538	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCCTGCTGTTTGATGCTTTGTCT	0.567			NA											46	69	---	---	---	---	NA	NA	NA	NA	NA
CD9	928	broad.mit.edu	37	12	6344416	6344416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:6344416delT	uc001qnp.1	+	6	814	c.370delT	c.(370-372)TTTfs	p.F124fs	CD9_uc010sev.1_Frame_Shift_Del_p.F124fs|CD9_uc001qnq.1_Frame_Shift_Del_p.F124fs	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	124	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						AGTCCAGGAGTTTTACAAGGA	0.498			NA											27	70	---	---	---	---	NA	NA	NA	NA	NA
KIF13B	23303	broad.mit.edu	37	8	28928144	28928144	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:28928144delG	uc003xhh.3	-	40	5417	c.5358delC	c.(5356-5358)CCCfs	p.P1786fs	KIF13B_uc011laz.1_Frame_Shift_Del_p.P305fs	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1786					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGCGGGCCTCGGGGGCACCCA	0.736			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
