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
HP1BP3	50809	broad.mit.edu	37	1	21074149	21074149	+	Splice_Site	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:21074149C>A	uc001bdw.1	-	11	1282	c.1142_splice	c.e11-1	p.M381_splice	HP1BP3_uc001bdv.1_Splice_Site_p.M343_splice|HP1BP3_uc010odh.1_Splice_Site_p.M343_splice|HP1BP3_uc001bdy.1_Splice_Site_p.M381_splice|HP1BP3_uc010odf.1_Splice_Site_p.M40_splice|HP1BP3_uc010odg.1_Splice_Site_p.M229_splice	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74						nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AGCAAATGCACTGAAAAAAAA	0.383			NA											18	14					5.26018e-13	4.44693e-12	0.00188189	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268753	21268753	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:21268753C>G	uc001bec.2	-	9	982	c.726G>C	c.(724-726)GAG>GAC	p.E242D	EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.E241D|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.E242D|EIF4G3_uc001bef.2_Missense_Mutation_p.E241D|EIF4G3_uc001bee.2_Missense_Mutation_p.E248D|EIF4G3_uc001beg.2_Missense_Mutation_p.E241D|EIF4G3_uc010odk.1_Missense_Mutation_p.E242D|EIF4G3_uc001beh.2_Missense_Mutation_p.E253D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	242					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTTCTTTCTTCTCTCCACTGA	0.438			NA											3	122					0	0	6.4e-05	0	0
USP24	23358	broad.mit.edu	37	1	55548983	55548983	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:55548983T>A	uc001cyg.3	-	55	6457	c.6457A>T	c.(6457-6459)ATC>TTC	p.I2153F		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2313					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						AGGAAGCTGATCATGTGCCGC	0.428			NA											5	34					0	0	0.000602214	0	0
TMEM56	148534	broad.mit.edu	37	1	95615786	95615786	+	Missense_Mutation	SNP	G	G	A	rs147035436		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:95615786G>A	uc001drb.2	+	4	559	c.268G>A	c.(268-270)GTG>ATG	p.V90M	RWDD3_uc001drd.3_Missense_Mutation_p.V90M|TMEM56_uc001drc.2_Missense_Mutation_p.V90M	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	90	TLC.|Helical; (Potential).					integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		ACTTGCAAACGTGAATATTGC	0.333			NA											6	33					0	0	0.000274275	0	0
PHTF1	10745	broad.mit.edu	37	1	114255907	114255907	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:114255907G>A	uc009wgp.1	-	7	1229	c.777C>T	c.(775-777)TGC>TGT	p.C259C	PHTF1_uc001edn.2_Silent_p.C259C|PHTF1_uc010own.1_Silent_p.C259C|PHTF1_uc001edm.2_Silent_p.C16C|PHTF1_uc001edo.1_Silent_p.C16C	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	259						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		TTACCCTACGGCACTTTTCTC	0.363			NA											30	50					0	0	0.000491102	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527			NA											4	64					0	0	0.00024832	0	0
C1orf56	54964	broad.mit.edu	37	1	151020753	151020753	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:151020753C>A	uc001ewn.2	+	1	495	c.430C>A	c.(430-432)CAG>AAG	p.Q144K		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	144						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCCAATAGTCAGGAGCCTGA	0.592	GBM(146;891 3320 6873)		NA									OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	38					3.45872e-05	0.000225607	0.000422831	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058248	152058248	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:152058248C>A	uc001ezo.1	-	3	1975	c.1910G>T	c.(1909-1911)GGC>GTC	p.G637V		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	637							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGTCCCTGGGCCTTGATTCTT	0.542			NA											29	76					1.12875e-08	8.19461e-08	0.00106085	1	0
RPTN	126638	broad.mit.edu	37	1	152127903	152127904	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:152127903_152127904GG>TT	uc001ezs.1	-	3	1736_1737	c.1671_1672CC>AA	c.(1669-1674)TCCCAC>TCAAAC	p.H558N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	558	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TGACCGTAGTGGGAACTCTGGC	0.51			NA											15	842					0	0	6.4e-05	0	0
CRNN	49860	broad.mit.edu	37	1	152382356	152382356	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:152382356C>T	uc001ezx.2	-	3	1276	c.1202G>A	c.(1201-1203)GGA>GAA	p.G401E		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	401					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCTGTCCTCCCGGTACTGT	0.612			NA											29	58					0	0	0.000339439	0	0
NPR1	4881	broad.mit.edu	37	1	153655879	153655879	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:153655879C>A	uc001fcs.3	+	6	1712	c.1291C>A	c.(1291-1293)CAA>AAA	p.Q431K	NPR1_uc010pdz.1_Missense_Mutation_p.Q177K|NPR1_uc010pea.1_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	431	Extracellular (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGGACTTCCCAAGAGCTGGT	0.592	Pancreas(141;1349 1870 15144 15830 40702)		NA											15	25					3.45872e-05	0.000225607	0.000422831	1	0
SYT11	23208	broad.mit.edu	37	1	155838433	155838433	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:155838433C>A	uc001fmg.2	+	2	975	c.712C>A	c.(712-714)CAG>AAG	p.Q238K	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	238	Cytoplasmic (Potential).|C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAGCCAGCTGCAGGACCTGGT	0.587			NA											18	39					1.67942e-08	1.21239e-07	0.00074312	1	0
PYHIN1	149628	broad.mit.edu	37	1	158914690	158914690	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:158914690G>A	uc001ftb.2	+	7	1462	c.1217G>A	c.(1216-1218)AGC>AAC	p.S406N	PYHIN1_uc001ftc.2_Missense_Mutation_p.S397N|PYHIN1_uc001ftd.2_Missense_Mutation_p.S406N|PYHIN1_uc001fte.2_Missense_Mutation_p.S397N	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	406					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					AACCAGAGAAGCCATGACTCC	0.388			NA											6	56					0	0	0.00116845	0	0
OR10J3	441911	broad.mit.edu	37	1	159284209	159284209	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:159284209G>T	uc010piu.1	-	1	241	c.241C>A	c.(241-243)CAT>AAT	p.H81N		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					GAAAGCATATGGGGAATGATG	0.493			NA											40	84					9.39024e-22	9.00482e-21	0.000437636	1	0
DEDD	9191	broad.mit.edu	37	1	161092140	161092140	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:161092140C>T	uc001fxz.2	-	6	927	c.754G>A	c.(754-756)GAG>AAG	p.E252K	NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Missense_Mutation_p.E282K|DEDD_uc001fya.2_Missense_Mutation_p.E252K|DEDD_uc001fyb.2_Missense_Mutation_p.E252K|DEDD_uc010pkb.1_Missense_Mutation_p.E209K|DEDD_uc001fyc.2_Missense_Mutation_p.E92K	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	death effector domain-containing protein	252					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TAGGTGAGCTCAGAGAACTTG	0.517			NA											10	93					0	0	0.00185496	0	0
RASAL2	9462	broad.mit.edu	37	1	178426849	178426849	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:178426849G>T	uc001glr.2	+	12	2124	c.1999G>T	c.(1999-2001)GAC>TAC	p.D667Y	RASAL2_uc001glq.2_Missense_Mutation_p.D808Y|RASAL2_uc009wxc.2_Missense_Mutation_p.D181Y	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	667					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						TCCAAGCCAGGACAACACAGA	0.408			NA											23	51					1.10923e-09	8.33545e-09	0.000375601	1	0
HMCN1	83872	broad.mit.edu	37	1	186064585	186064585	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:186064585G>T	uc001grq.1	+	68	10734	c.10505G>T	c.(10504-10506)GGA>GTA	p.G3502V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3502	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAAGATTCGGGAAAGTACACC	0.478			NA											26	67					1.7881e-09	1.33588e-08	0.001512	1	0
ASPM	259266	broad.mit.edu	37	1	197069976	197069976	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:197069976C>A	uc001gtu.2	-	18	8662	c.8405G>T	c.(8404-8406)GGC>GTC	p.G2802V	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.G650V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2802					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ACAAGCAAGGCCAGAAGCTTT	0.383			NA											47	114					1.81118e-26	1.79028e-25	0.000781405	1	0
PTPRC	5788	broad.mit.edu	37	1	198685924	198685924	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:198685924C>A	uc001gur.1	+	13	1579	c.1399C>A	c.(1399-1401)CGT>AGT	p.R467S	PTPRC_uc001gus.1_Missense_Mutation_p.R419S|PTPRC_uc001gut.1_Missense_Mutation_p.R306S|PTPRC_uc009wzf.1_Missense_Mutation_p.R355S|PTPRC_uc010ppg.1_Missense_Mutation_p.R403S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	467	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AAAAGTGCAACGTAATGGAAG	0.308			NA											16	37					0.000422831	0.00262482	0.000422831	1	0
CNTN2	6900	broad.mit.edu	37	1	205033553	205033553	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:205033553C>T	uc001hbr.2	+	11	1613	c.1344C>T	c.(1342-1344)GCC>GCT	p.A448A	CNTN2_uc001hbq.1_Silent_p.A339A|CNTN2_uc001hbs.2_Silent_p.A236A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	448	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAAAGGCCGTGGTGCTCT	0.637	Melanoma(183;2548 2817 37099 41192)		NA											38	104					0	0	0.00170553	0	0
MFSD4	148808	broad.mit.edu	37	1	205550012	205550012	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:205550012G>T	uc001hcv.3	+	3	739	c.653G>T	c.(652-654)CGA>CTA	p.R218L	MFSD4_uc010prk.1_Intron|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.R163L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	218					transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCAGGGACCCGAGTGTCCTAT	0.607			NA											15	23					4.14922e-12	3.39602e-11	0.000422831	1	0
CENPF	1063	broad.mit.edu	37	1	214814317	214814317	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:214814317C>A	uc001hkm.2	+	12	2810	c.2636C>A	c.(2635-2637)GCT>GAT	p.A879D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	879	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTTTTGTGGCTGAAACAAGT	0.408	Colon(80;575 1284 11000 14801 43496)		NA											6	80					0.00116845	0.00711589	0.00116845	1	0
CENPF	1063	broad.mit.edu	37	1	214832299	214832299	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:214832299C>T	uc001hkm.2	+	19	9243	c.9069C>T	c.(9067-9069)TCC>TCT	p.S3023S		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	3119					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGCGCTATCCCCACTGAGTC	0.522	Colon(80;575 1284 11000 14801 43496)		NA									OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	83					0	0	0.000814825	0	0
RYR2	6262	broad.mit.edu	37	1	237777844	237777844	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:237777844G>T	uc001hyl.1	+	37	5536	c.5416G>T	c.(5416-5418)GCC>TCC	p.A1806S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1806	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCTTCATGCCCGGGACCC	0.468			NA											63	157					6.26901e-30	6.49652e-29	0.000781405	1	0
RYR2	6262	broad.mit.edu	37	1	237947592	237947592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:237947592G>T	uc001hyl.1	+	90	12700	c.12580G>T	c.(12580-12582)GAG>TAG	p.E4194*	RYR2_uc010pya.1_Nonsense_Mutation_p.E609*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4194					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTTCTGCGAGGACACCAT	0.512			NA											35	99					9.45814e-24	9.13813e-23	0.000953801	1	0
NLRP3	114548	broad.mit.edu	37	1	247588388	247588388	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:247588388G>T	uc001icr.2	+	5	1781	c.1643G>T	c.(1642-1644)GGG>GTG	p.G548V	NLRP3_uc001ics.2_Missense_Mutation_p.G548V|NLRP3_uc001icu.2_Missense_Mutation_p.G548V|NLRP3_uc001icw.2_Missense_Mutation_p.G548V|NLRP3_uc001icv.2_Missense_Mutation_p.G548V|NLRP3_uc010pyw.1_Missense_Mutation_p.G546V|NLRP3_uc001ict.1_Missense_Mutation_p.G546V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	548					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AACGTTCCAGGGAGTCGTTTG	0.463			NA											21	38					1.96292e-10	1.53802e-09	0.00152264	1	0
OR2T34	127068	broad.mit.edu	37	1	248737440	248737440	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:248737440A>T	uc001iep.1	-	1	619	c.619T>A	c.(619-621)TGC>AGC	p.C207S		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	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)			AGGATGCAGCACAGGTACGTG	0.532			NA											21	354					0	0	0.000295444	0	0
PGBD2	267002	broad.mit.edu	37	1	249211989	249211989	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:249211989C>A	uc001ifh.2	+	3	1353	c.1206C>A	c.(1204-1206)GTC>GTA	p.V402V	PGBD2_uc001ifg.2_Silent_p.V151V|PGBD2_uc009xhd.2_Silent_p.V399V	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	402										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATTACAAAGTCGATGAGAGTG	0.498			NA											10	67					7.48243e-07	5.16931e-06	0.000442599	1	0
FBXO18	84893	broad.mit.edu	37	10	5948591	5948591	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:5948591C>A	uc001iis.2	+	3	844	c.749C>A	c.(748-750)CCG>CAG	p.P250Q	FBXO18_uc001iir.2_Missense_Mutation_p.P176Q|FBXO18_uc009xig.2_Missense_Mutation_p.P176Q|FBXO18_uc001iit.2_Missense_Mutation_p.P301Q	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	250					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ATCAGTGACCCGCTGGTGAGT	0.498			NA											4	66					0.000602214	0.00370261	0.000602214	1	0
FRMD4A	55691	broad.mit.edu	37	10	13779862	13779862	+	Silent	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:13779862A>G	uc001ims.2	-	12	1093	c.741T>C	c.(739-741)GAT>GAC	p.D247D	FRMD4A_uc009xjf.1_Silent_p.D247D|FRMD4A_uc001imt.1_Silent_p.D280D|FRMD4A_uc001imu.1_Silent_p.D263D	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	247	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GCTTCACTTTATCATGGTAGT	0.458			NA											6	36					0	0	0.000274275	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280116	18280116	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:18280116G>T	uc001ipo.2	+	8	1579	c.1306G>T	c.(1306-1308)GGG>TGG	p.G436W	SLC39A12_uc001ipn.2_Missense_Mutation_p.G436W|SLC39A12_uc001ipp.2_Missense_Mutation_p.G436W|SLC39A12_uc010qck.1_Missense_Mutation_p.G302W	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	436	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CCCAGAATTTGGGCATTTCCA	0.358			NA											48	72					1.07234e-20	1.01321e-19	0.000781405	1	0
PTCHD3	374308	broad.mit.edu	37	10	27703133	27703133	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:27703133G>T	uc001itu.2	-	1	165	c.47C>A	c.(46-48)CCC>CAC	p.P16H		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	16					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GGTGAGCTTGGGCTTCTGCTC	0.642			NA											18	68					7.45023e-12	5.9463e-11	0.00152264	1	0
PCDH15	65217	broad.mit.edu	37	10	55663078	55663078	+	Silent	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:55663078T>C	uc001jju.1	-	26	3821	c.3426A>G	c.(3424-3426)CCA>CCG	p.P1142P	PCDH15_uc010qhq.1_Silent_p.P1147P|PCDH15_uc010qhr.1_Silent_p.P1142P|PCDH15_uc010qhs.1_Silent_p.P1154P|PCDH15_uc010qht.1_Silent_p.P1149P|PCDH15_uc010qhu.1_Silent_p.P1142P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1142P|PCDH15_uc010qhw.1_Silent_p.P1105P|PCDH15_uc010qhx.1_Silent_p.P1071P|PCDH15_uc010qhy.1_Silent_p.P1147P|PCDH15_uc010qhz.1_Silent_p.P1142P|PCDH15_uc010qia.1_Silent_p.P1120P|PCDH15_uc010qib.1_Silent_p.P1120P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1142	Cadherin 10.|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)				TCTGAAACACTGGGGGATGAT	0.368			NA								HNSCC(58;0.16)			5	64					0	0	0.00116845	0	0
CCKBR	887	broad.mit.edu	37	11	6291510	6291510	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:6291510G>T	uc001mcp.2	+	3	789	c.596G>T	c.(595-597)GGG>GTG	p.G199V	CCKBR_uc001mcq.2_Missense_Mutation_p.G127V|CCKBR_uc001mcr.2_Missense_Mutation_p.G199V|CCKBR_uc001mcs.2_Missense_Mutation_p.G199V|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	199	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACCAGTGGGGCCTCGTGTG	0.627			NA											35	54					2.47316e-13	2.1473e-12	0.00058488	1	0
RRP8	23378	broad.mit.edu	37	11	6622684	6622684	+	Silent	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:6622684T>A	uc001med.2	-	3	691	c.612A>T	c.(610-612)CCA>CCT	p.P204P	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	204					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						GCACCTGAGGTGGCTGAAACT	0.582			NA											21	45					0	0	0.00152264	0	0
STK33	65975	broad.mit.edu	37	11	8435086	8435086	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:8435086C>T	uc001mgi.1	-	11	2219	c.1300G>A	c.(1300-1302)GTC>ATC	p.V434I	STK33_uc001mgj.1_Missense_Mutation_p.V434I|STK33_uc001mgk.1_Missense_Mutation_p.V434I|STK33_uc010rbn.1_Missense_Mutation_p.V393I|STK33_uc001mgl.3_Missense_Mutation_p.V247I	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	434						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GCATCAGGGACATTTCCCCAG	0.418			NA											37	195					0	0	0.000781405	0	0
METT5D1	196074	broad.mit.edu	37	11	28135017	28135017	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:28135017C>T	uc001msh.2	+	3	591	c.136C>T	c.(136-138)CGG>TGG	p.R46W	METT5D1_uc001msg.2_Missense_Mutation_p.R46W|METT5D1_uc001mse.2_Missense_Mutation_p.R46W|METT5D1_uc001msf.1_RNA	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	46							methyltransferase activity				0						ATATGAAGCCCGGGAGCAAAC	0.388			NA											18	35					0	0	0.000566183	0	0
OR5I1	10798	broad.mit.edu	37	11	55703675	55703675	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55703675G>A	uc010ris.1	-	1	202	c.202C>T	c.(202-204)CTA>TTA	p.L68L		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACAAATGATAGGTTGCTAAGG	0.393			NA											9	43					0	0	0.000442599	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735562	55735562	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55735562C>A	uc010rit.1	-	1	378	c.378G>T	c.(376-378)GTG>GTT	p.V126V		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					TGTGGTTCATCACTAGAGGAT	0.438			NA											13	49					0.00010058	0.000630464	0.00136819	1	0
OR5F1	338674	broad.mit.edu	37	11	55761571	55761571	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55761571G>T	uc010riv.1	-	1	531	c.531C>A	c.(529-531)TTC>TTA	p.F177L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TGTCACAGAAGAAGTGATGGA	0.473			NA											23	64					4.72057e-08	3.33293e-07	0.000586117	1	0
OR8J3	81168	broad.mit.edu	37	11	55904930	55904930	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55904930T>C	uc010riz.1	-	1	265	c.265A>G	c.(265-267)AAG>GAG	p.K89E		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GTAGTTTTCTTCTTTACTAAA	0.418			NA											36	104					0	0	0.000692331	0	0
OR5T2	219464	broad.mit.edu	37	11	55999864	55999864	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55999864C>G	uc010rjc.1	-	1	798	c.798G>C	c.(796-798)AAG>AAC	p.K266N		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	266	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CAGAATACATCTTCAGAATGG	0.433			NA											26	115					0	0	0.00106085	0	0
KLHL35	283212	broad.mit.edu	37	11	75134888	75134888	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:75134888G>T	uc001owm.1	-	5	970	c.751C>A	c.(751-753)CTG>ATG	p.L251M		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	kelch-like 35	251	Kelch 4.										0						GGTGACCGCAGGCTCCACCGG	0.602	Colon(77;683 1691 18820 23811)		NA											22	38					1.50039e-11	1.19012e-10	0.00188189	1	0
ATM	472	broad.mit.edu	37	11	108236220	108236220	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:108236220G>C	uc001pkb.1	+	63	9541	c.9156G>C	c.(9154-9156)TGG>TGC	p.W3052C	ATM_uc009yxr.1_Missense_Mutation_p.W3052C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.W1704C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3052	FATC.				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)		TCCCAGGATGGAAAGCTTGGG	0.408			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)			11	17					0	0	0.00136819	0	0
OR8B3	390271	broad.mit.edu	37	11	124266588	124266588	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:124266588G>A	uc010saj.1	-	1	660	c.660C>T	c.(658-660)TTC>TTT	p.F220F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.403			NA											39	137					0	0	0.000781405	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840287	128840287	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:128840287C>A	uc009zcp.2	-	22	4779	c.4779G>T	c.(4777-4779)ATG>ATT	p.M1593I	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.M552I|ARHGAP32_uc001qez.2_Missense_Mutation_p.M1244I	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1593	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CAGAGCGAATCATGGAAGACG	0.532			NA											6	37					6.5536e-12	5.29646e-11	0.000157383	1	0
B3GAT1	27087	broad.mit.edu	37	11	134253972	134253972	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:134253972G>T	uc001qhq.2	-	4	484	c.223C>A	c.(223-225)CGG>AGG	p.R75R	B3GAT1_uc001qhr.2_Silent_p.R75R|B3GAT1_uc010scv.1_Silent_p.R88R	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	75	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGGGGGCCGCGTGTACACG	0.701			NA											5	5					1.23904e-05	8.24957e-05	0.000602214	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:25398284C>G	uc001rgp.1	-	2	216	c.35G>C	c.(34-36)GGT>GCT	p.G12A	KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			14	14					0	0	0.000308642	0	0
ITPR2	3709	broad.mit.edu	37	12	26868257	26868257	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:26868257C>A	uc001rhg.2	-	8	1247	c.830G>T	c.(829-831)AGT>ATT	p.S277I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	277	Cytoplasmic (Potential).|MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TGCTTTAGAACTAGTAGCAGA	0.358			NA											14	146					1.37285e-15	1.22508e-14	0.000422831	1	0
NACA	4666	broad.mit.edu	37	12	57108218	57108218	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:57108218C>G	uc001slz.2	-	4	511	c.162G>C	c.(160-162)GCG>GCC	p.A54A	NACA_uc001sly.2_Silent_p.A54A|NACA_uc009zoy.1_Silent_p.A1917A|NACA_uc001smc.2_Silent_p.A54A|NACA_uc001sma.2_Silent_p.A764A|NACA_uc001smb.2_Silent_p.A54A|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	54					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						CAGCTGCTGCCGCCAGCTAAG	0.408			NA	T	BCL6	NHL								17	50					0	0	0.000958276	0	0
PPM1H	57460	broad.mit.edu	37	12	63225927	63225927	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:63225927G>A	uc001srk.3	-	2	527	c.378C>T	c.(376-378)CCC>CCT	p.P126P		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	126							phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTTCCCCATTGGGAAGGGAGG	0.552			NA											7	18					0	0	8.12818e-05	0	0
AVPR1A	552	broad.mit.edu	37	12	63541299	63541299	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:63541299C>A	uc001sro.1	-	2	3071	c.1097G>T	c.(1096-1098)TGC>TTC	p.C366F		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	366	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATGTTTTGGCAGCATGGGAA	0.403			NA											34	86					2.08457e-15	1.84736e-14	0.000339439	1	0
C12orf24	29902	broad.mit.edu	37	12	110925706	110925706	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:110925706C>T	uc001tqu.3	+	6	1110	c.661C>T	c.(661-663)CTG>TTG	p.L221L	C12orf24_uc001tqt.2_RNA|C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_RNA	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	hypothetical protein LOC29902	221											0						ATGTAAGTCACTGAAGATTTT	0.333			NA											22	84					0	0	0.001512	0	0
KIAA0564	23078	broad.mit.edu	37	13	42273408	42273408	+	Splice_Site	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr13:42273408T>A	uc001uyj.2	-	29	3435	c.3365_splice	c.e29-1	p.E1122_splice		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a							extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GCTCATTTTCTGAAATGACAA	0.383			NA											48	36					0	0	0.000781405	0	0
RNASE4	6038	broad.mit.edu	37	14	21167901	21167901	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:21167901C>G	uc001vxy.3	+	2	934	c.371C>G	c.(370-372)GCC>GGC	p.A124G	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.A124G	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	124					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AGATATCGGGCCATAGCGAGC	0.532	Esophageal Squamous(59;1059 1362 26290 51151)		NA											4	148					0	0	0.00024832	0	0
DACT1	51339	broad.mit.edu	37	14	59113448	59113448	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:59113448G>C	uc001xdw.2	+	4	2271	c.2107G>C	c.(2107-2109)GGG>CGG	p.G703R	DACT1_uc010trv.1_Missense_Mutation_p.G422R|DACT1_uc001xdx.2_Missense_Mutation_p.G666R|DACT1_uc010trw.1_Missense_Mutation_p.G422R	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	703					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GGAGAATGTGGGGCTGTACCC	0.662			NA											9	26					0	0	0.000442599	0	0
SEL1L	6400	broad.mit.edu	37	14	81950604	81950604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:81950604C>A	uc010tvv.1	-	19	2128	c.2011G>T	c.(2011-2013)GGA>TGA	p.G671*		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	671	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATATATCCCAGATTAAAC	0.403			NA											158	322					5.63857e-76	6.08871e-75	0.000781405	1	0
SERPINA3	12	broad.mit.edu	37	14	95081183	95081183	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:95081183G>A	uc001ydp.2	+	2	484	c.405G>A	c.(403-405)CTG>CTA	p.L135L	SERPINA3_uc001ydo.3_Silent_p.L160L|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.L135L|SERPINA3_uc001yds.2_Silent_p.L135L|SERPINA3_uc010avg.2_Silent_p.L135L	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	135					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGCTGCAGCTGAGTATGGGAA	0.547			NA											9	62					0	0	0.000274275	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890281	23890281	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:23890281T>A	uc001ywj.3	-	1	895	c.800A>T	c.(799-801)GAG>GTG	p.E267V		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTTGGAGGCCTCTTGAGTGGT	0.632			NA											22	37					0	0	0.000295444	0	0
C15orf2	23742	broad.mit.edu	37	15	24924005	24924005	+	Silent	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:24924005G>C	uc001ywo.2	+	1	3465	c.2991G>C	c.(2989-2991)CTG>CTC	p.L997L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	997					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTACCTTACTGGTTGGAAATA	0.522			NA											3	46					0	0	6.4e-05	0	0
ACTC1	70	broad.mit.edu	37	15	35084734	35084734	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:35084734T>C	uc001ziu.1	-	4	734	c.491A>G	c.(490-492)AAT>AGT	p.N164S	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	164					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGGGGACATTGTGAGTTAC	0.537			NA											19	46					0	0	0.000375601	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168722	50168722	+	Splice_Site	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:50168722T>A	uc001zxu.2	-	25	2924	c.2782_splice	c.e25-1	p.D928_splice	ATP8B4_uc010ber.2_Splice_Site_p.D801_splice|ATP8B4_uc010ufd.1_Splice_Site_p.D738_splice|ATP8B4_uc010ufe.1_Splice_Site|ATP8B4_uc001zxt.2_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTCACATCCTGTAAACAGAG	0.418			NA											9	32					0	0	0.000978159	0	0
RPL3L	6123	broad.mit.edu	37	16	1995903	1995903	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:1995903T>A	uc002cnh.2	-	8	1027	c.980A>T	c.(979-981)AAC>ATC	p.N327I	SEPX1_uc010uvs.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	327					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						GAAGTCGTTGTTCACTTCCCC	0.602			NA											20	54					0	0	0.000586117	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239268	2239268	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:2239268C>A	uc010bsg.1	-	5	489	c.457G>T	c.(457-459)GAC>TAC	p.D153Y		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	153	ANK 4.				signal transduction	cytoplasm				skin(2)	2						CAGGCCAGGTCCAGGGGCGTC	0.672			NA											9	15					2.17888e-05	0.000144323	0.000442599	1	0
ACSM2B	348158	broad.mit.edu	37	16	20565132	20565132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:20565132G>T	uc002dhj.3	-	6	917	c.707C>A	c.(706-708)TCG>TAG	p.S236*	ACSM2B_uc002dhk.3_Nonsense_Mutation_p.S236*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.S236*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	236					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						GCCCAGGCTCGAGTAGGAATG	0.507			NA											31	69					9.04072e-19	8.35779e-18	0.00058488	1	0
SULT1A2	6799	broad.mit.edu	37	16	28606736	28606736	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:28606736G>C	uc002dqg.1	-	4	675	c.324C>G	c.(322-324)CAC>CAG	p.H108Q	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.H108Q	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	108		Proton acceptor (By similarity).			3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CCAGGGGCAGGTGTGTCTTCA	0.448			NA											19	87					0	0	0.00152264	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928501	56928501	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:56928501G>T	uc010ccm.2	+	22	2609	c.2580G>T	c.(2578-2580)AAG>AAT	p.K860N	SLC12A3_uc002ekd.3_Missense_Mutation_p.K869N|SLC12A3_uc010ccn.2_Missense_Mutation_p.K868N	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	860	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCAAATGCAAGATCCGTGTGT	0.572			NA											11	22					1.11149e-13	9.71609e-13	0.000673444	1	0
CNOT1	23019	broad.mit.edu	37	16	58590826	58590826	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:58590826C>A	uc002env.2	-	19	2697	c.2404G>T	c.(2404-2406)GAC>TAC	p.D802Y	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D802Y|CNOT1_uc002enx.2_Missense_Mutation_p.D802Y|CNOT1_uc002enz.1_Missense_Mutation_p.D231Y	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	802					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACAAAAGGGTCGTTATTCACT	0.493			NA											7	48					2.0095e-06	1.37351e-05	8.12818e-05	1	0
CDH8	1006	broad.mit.edu	37	16	61935283	61935284	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:61935283_61935284CC>AA	uc002eog.1	-	3	598_599	c.346_347GG>TT	c.(346-348)GGA>TTA	p.G116L		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	116	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGGATATCTCCAGTTACATCA	0.441			NA											18	72					0	0	6.4e-05	0	0
ZNF23	7571	broad.mit.edu	37	16	71483658	71483658	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:71483658C>G	uc002faf.2	-	6	1084	c.270G>C	c.(268-270)CAG>CAC	p.Q90H	ZNF23_uc002fad.2_Missense_Mutation_p.Q32H|ZNF23_uc002fae.2_Missense_Mutation_p.Q32H|ZNF23_uc010vmf.1_Missense_Mutation_p.Q32H|ZNF23_uc002fag.2_Missense_Mutation_p.Q32H|ZNF23_uc002fah.2_Missense_Mutation_p.Q90H|ZNF23_uc002fai.2_Missense_Mutation_p.Q129H	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AGTGGACTTCCTGTTGTTTCT	0.403			NA											46	112					0	0	0.000589545	0	0
PMFBP1	83449	broad.mit.edu	37	16	72159967	72159967	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:72159967T>A	uc002fcc.3	-	15	2340	c.2168A>T	c.(2167-2169)GAG>GTG	p.E723V	PMFBP1_uc002fcd.2_Missense_Mutation_p.E718V|PMFBP1_uc002fce.2_Intron|PMFBP1_uc002fcf.2_Missense_Mutation_p.E573V|PMFBP1_uc010cgo.1_Missense_Mutation_p.E14V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	723	Potential.									ovary(2)	2		Ovarian(137;0.179)				ATAGTGCTTCTCCTTCTGCAG	0.537			NA											34	185					0	0	0.000491102	0	0
OR1D2	4991	broad.mit.edu	37	17	2996216	2996216	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:2996216C>A	uc010vrb.1	-	1	75	c.75G>T	c.(73-75)CAG>CAT	p.Q25H		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	25	Extracellular (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AAAACAGGATCCGCTGCTGCT	0.532			NA											22	80					5.26018e-13	4.44693e-12	0.00188189	1	0
MYH8	4626	broad.mit.edu	37	17	10301845	10301845	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:10301845G>T	uc002gmm.2	-	30	4189	c.4094C>A	c.(4093-4095)TCC>TAC	p.S1365Y	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1365	Potential.				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						GTTGGCCTTGGACAGCGCCCT	0.597			NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				60	94					3.37043e-27	3.35737e-26	0.000781405	1	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400014	13400014	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:13400014C>G	uc002gob.1	-	2	1519	c.721G>C	c.(721-723)GTG>CTG	p.V241L		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	241	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCGCACCACCACGATGAGC	0.632			NA											10	36					0	0	0.000566183	0	0
RAI1	10743	broad.mit.edu	37	17	17707136	17707136	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:17707136T>A	uc002grm.2	+	4	6101	c.5632T>A	c.(5632-5634)TAC>AAC	p.Y1878N		NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1878	PHD-type.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCCACACCTACCACTACCC	0.612			NA											24	27					0	0	0.000586117	0	0
EPN2	22905	broad.mit.edu	37	17	19186773	19186773	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:19186773G>A	uc002gvd.3	+	3	789	c.341G>A	c.(340-342)CGA>CAA	p.R114Q	EPN2_uc002gvc.2_Missense_Mutation_p.R114Q|EPN2_uc010vyn.1_Missense_Mutation_p.R114Q|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.R114Q|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.R114Q|EPN2_uc010vyp.1_Missense_Mutation_p.R114Q|EPN2_uc010vyq.1_Missense_Mutation_p.R114Q|EPN2_uc002gvh.1_Missense_Mutation_p.R114Q	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	114	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TACATTGACCGAGATGGCAAG	0.572			NA											18	25					0	0	0.000566183	0	0
VTN	7448	broad.mit.edu	37	17	26695960	26695960	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:26695960G>T	uc002hbc.2	-	5	908	c.759C>A	c.(757-759)AAC>AAA	p.N253K	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	253					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTGCATCCACGTTGTCCGGGA	0.592			NA											10	87					4.3838e-07	3.04496e-06	0.00185496	1	0
ERBB2	2064	broad.mit.edu	37	17	37871593	37871593	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:37871593G>A	uc002hso.2	+	10	1441	c.1203G>A	c.(1201-1203)GAG>GAA	p.E401E	ERBB2_uc002hsm.2_Silent_p.E371E|ERBB2_uc010cwa.2_Silent_p.E386E|ERBB2_uc002hsp.2_Silent_p.E204E|ERBB2_uc010cwb.2_Silent_p.E401E|ERBB2_uc010wek.1_Silent_p.E125E|ERBB2_uc002hsl.2_Silent_p.E371E	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	401	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AAGTGTTTGAGACTCTGGAAG	0.607			1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			9	20					0	0	0.000673444	0	0
KRT20	54474	broad.mit.edu	37	17	39036991	39036991	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:39036991C>A	uc002hvl.2	-	3	547	c.505G>T	c.(505-507)GTG>TTG	p.V169L		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	169	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				TCAGCTTCCACTGTTAGACGT	0.378			NA											44	64					3.7052e-28	3.71968e-27	0.000680045	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47219396	47219396	+	Splice_Site	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:47219396G>T	uc002ion.2	+	3	455	c.396_splice	c.e3-1	p.W132_splice	B4GALNT2_uc010wlt.1_Splice_Site_p.W46_splice|B4GALNT2_uc010wlu.1_Splice_Site_p.W72_splice	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2						lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GCTTGTTTCAGGCTGTTCCCG	0.498	GBM(124;244 1635 8663 18097 33175)		NA											29	54					1.38854e-25	1.36204e-24	0.001512	1	0
CTAGE1	64693	broad.mit.edu	37	18	19996316	19996316	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:19996316G>C	uc002ktv.1	-	1	1563	c.1459C>G	c.(1459-1461)CCA>GCA	p.P487A		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	487						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGACCATATGGGGAATGCTGT	0.403			NA											57	94					0	0	0.000781405	0	0
ASXL3	80816	broad.mit.edu	37	18	31323160	31323160	+	Silent	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:31323160T>A	uc010dmg.1	+	12	3403	c.3348T>A	c.(3346-3348)GCT>GCA	p.A1116A	ASXL3_uc002kxq.2_Silent_p.A823A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGCATCAAGCTCGAGCCCATC	0.522			NA											7	28					0	0	8.12818e-05	0	0
FECH	2235	broad.mit.edu	37	18	55247425	55247425	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:55247425G>C	uc002lgq.3	-	2	191	c.74C>G	c.(73-75)TCC>TGC	p.S25C	FECH_uc002lgp.3_Missense_Mutation_p.S25C|FECH_uc002lgr.3_Translation_Start_Site	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	25					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				CCAGCTGCTGGATGCCACTGT	0.488			NA											4	58					0	0	0.00024832	0	0
ZNF532	55205	broad.mit.edu	37	18	56646334	56646334	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:56646334G>A	uc002lho.2	+	9	3745	c.3198G>A	c.(3196-3198)TCG>TCA	p.S1066S	ZNF532_uc002lhp.2_Silent_p.S1064S|ZNF532_uc010xeg.1_Silent_p.S1064S|ZNF532_uc002lhr.2_Silent_p.S1064S|ZNF532_uc002lhs.2_Silent_p.S1064S|ZNF532_uc010xeh.1_Silent_p.S158S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1066	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CTTTCAGCTCGTCCCACAGCC	0.507			NA											26	136					0	0	0.001512	0	0
CBLN2	147381	broad.mit.edu	37	18	70209322	70209322	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:70209322G>T	uc002lku.2	-	2	309	c.74C>A	c.(73-75)CCG>CAG	p.P25Q	CBLN2_uc002lkv.2_Missense_Mutation_p.P25Q	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25						integral to membrane					0		Esophageal squamous(42;0.131)				GCAgccgcccggctcgcgcag	0.547			NA											8	7					2.74318e-10	2.12349e-09	0.000442599	1	0
STK11	6794	broad.mit.edu	37	19	1207096	1207096	+	Nonsense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:1207096A>T	uc002lrl.1	+	1	1299	c.184A>T	c.(184-186)AAG>TAG	p.K62*		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	62	ATP (By similarity).|Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(3)|p.G52_P179del(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTACGGCAAGGTGAAGGA	0.617			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			9	12					0	0	0.00136819	0	0
ZNF227	7770	broad.mit.edu	37	19	44739842	44739842	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:44739842C>A	uc002oyu.2	+	6	1464	c.1259C>A	c.(1258-1260)GCT>GAT	p.A420D	ZNF227_uc010xwu.1_Missense_Mutation_p.A369D|ZNF227_uc002oyv.2_Missense_Mutation_p.A420D|ZNF227_uc010xwv.1_Missense_Mutation_p.A369D|ZNF227_uc010xww.1_Missense_Mutation_p.A341D|ZNF227_uc002oyw.2_Missense_Mutation_p.A392D|ZNF227_uc010ejh.2_Missense_Mutation_p.A413D|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	420	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				TTCACTCAGGCTGCACATTTT	0.488			NA											10	48					3.86212e-05	0.000248141	0.000673444	1	0
GYS1	2997	broad.mit.edu	37	19	49485991	49485991	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:49485991C>A	uc002plp.2	-	6	1168	c.927G>T	c.(925-927)CGG>CGT	p.R309R	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.R245R|GYS1_uc010xzz.1_Silent_p.R229R|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	309					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAAAATGGCCCCGCACAAACT	0.328			NA											37	72					1.59361e-14	1.40259e-13	0.00148497	1	0
ZNF71	58491	broad.mit.edu	37	19	57133759	57133759	+	Silent	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:57133759G>C	uc002qnm.3	+	3	1342	c.1104G>C	c.(1102-1104)TCG>TCC	p.S368S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	368	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGAACTCCTCGCTCACGCAGC	0.617			NA											22	41					0	0	0.000720815	0	0
VN1R1	57191	broad.mit.edu	37	19	57967590	57967590	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:57967590G>T	uc002qos.1	-	1	265	c.265C>A	c.(265-267)CAA>AAA	p.Q89K	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	89	Helical; Name=2; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AAGGCCAGTTGGCTGAGAATC	0.423			NA											16	40					2.32078e-09	1.72382e-08	0.000308642	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028204	59028204	+	Silent	SNP	A	A	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:59028204A>C	uc002qtd.2	-	2	1129	c.837T>G	c.(835-837)GCT>GCG	p.A279A	ZBTB45_uc002qte.2_Silent_p.A279A|ZBTB45_uc002qtf.2_Silent_p.A279A	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ATACGTCCTCAGCTGACCCAG	0.627	NSCLC(164;1383 2017 5233 27540 46677)		NA									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	31					0	0	0.00152264	0	0
KIDINS220	57498	broad.mit.edu	37	2	8940623	8940623	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:8940623C>A	uc002qzc.2	-	9	989	c.807G>T	c.(805-807)GGG>GGT	p.G269G	KIDINS220_uc010yiv.1_Silent_p.G35G|KIDINS220_uc002qzd.2_Silent_p.G227G|KIDINS220_uc010yiw.1_Silent_p.G270G	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	269	Cytoplasmic (Potential).|ANK 9.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACAGTATCCCCACTCTAAG	0.343			NA											79	136					7.14593e-30	7.34601e-29	0.000781405	1	0
SLC8A1	6546	broad.mit.edu	37	2	40342578	40342578	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:40342578G>T	uc002rrx.2	-	10	2761	c.2737C>A	c.(2737-2739)CTC>ATC	p.L913I	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.L908I|SLC8A1_uc002rrz.2_Missense_Mutation_p.L900I|SLC8A1_uc002rsa.2_Missense_Mutation_p.L877I|SLC8A1_uc002rsd.3_Missense_Mutation_p.L877I	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	913	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATGGTGAAGAGAGTGACAGAG	0.577			NA											11	42					5.50884e-06	3.74543e-05	0.00136819	1	0
VPS54	51542	broad.mit.edu	37	2	64208813	64208813	+	Silent	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:64208813T>C	uc002scq.2	-	3	508	c.345A>G	c.(343-345)GAA>GAG	p.E115E	VPS54_uc002scp.2_Silent_p.E103E	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	115					protein transport|retrograde transport, endosome to Golgi						0						CTGTAAAATGTTCCTTGCTGA	0.353			NA											41	90					0	0	0.000437636	0	0
ALMS1	7840	broad.mit.edu	37	2	73653584	73653584	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:73653584G>T	uc002sje.1	+	7	1355	c.1244G>T	c.(1243-1245)GGC>GTC	p.G415V	ALMS1_uc002sjf.1_Missense_Mutation_p.G372V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	414					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTTGTAGAGGGCCTGCAGGGG	0.428			NA											84	203					1.40082e-25	1.36367e-24	0.000781405	1	0
C2orf55	343990	broad.mit.edu	37	2	99448925	99448925	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:99448925C>A	uc002szf.1	-	5	720	c.426G>T	c.(424-426)GGG>GGT	p.G142G		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	142											0						TGGCAGGAAGCCCCCCTGGAG	0.522			NA											16	53					4.7546e-09	3.4714e-08	0.000422831	1	0
UXS1	80146	broad.mit.edu	37	2	106715213	106715213	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:106715213T>G	uc002tdm.2	-	13	1084	c.986A>C	c.(985-987)CAC>CCC	p.H329P	UXS1_uc002tdk.2_5'Flank|UXS1_uc002tdl.2_Missense_Mutation_p.H161P|UXS1_uc002tdn.2_Missense_Mutation_p.H334P|UXS1_uc002tdo.2_Missense_Mutation_p.H272P	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	329	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						TAGGATTGTGTGTTCTTCTGG	0.433			NA											14	19					0	0	0.000308642	0	0
GLI2	2736	broad.mit.edu	37	2	121728152	121728152	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:121728152C>A	uc010flp.2	+	6	1059	c.1029C>A	c.(1027-1029)AGC>AGA	p.S343R	GLI2_uc002tmq.1_Missense_Mutation_p.S15R|GLI2_uc002tmr.1_Missense_Mutation_p.S15R|GLI2_uc002tmt.3_Missense_Mutation_p.S15R|GLI2_uc002tmu.3_Missense_Mutation_p.S15R|GLI2_uc002tmv.1_Missense_Mutation_p.Q214K|GLI2_uc010flo.1_Missense_Mutation_p.S218R|GLI2_uc002tmw.1_Missense_Mutation_p.S343R	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	343					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AGCTCAGCAGCAGCAGCAACT	0.617			NA											16	31					2.31682e-05	0.000152673	0.000308642	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125261952	125261952	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:125261952C>T	uc002tno.2	+	8	1507	c.1143C>T	c.(1141-1143)CCC>CCT	p.P381P	CNTNAP5_uc010flu.2_Silent_p.P382P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	381	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTGCTGCCCGGCACCCCCC	0.512			NA											25	55					0	0	0.00047179	0	0
Unknown	0	broad.mit.edu	37	2	139046051	139046051	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:139046051C>A	uc010zbk.1	-	1	390	c.247G>T	c.(247-249)GAC>TAC	p.D83Y						SubName: Full=cDNA, FLJ79100, highly similar to 14-3-3 protein epsilon (14-3-3E);												NA						AGATGTTTGTCCAGTACATCC	0.413			NA											23	58					6.44725e-10	4.96091e-09	0.000295444	1	0
SPOPL	339745	broad.mit.edu	37	2	139322544	139322544	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:139322544G>T	uc002tvh.2	+	10	1415	c.1015G>T	c.(1015-1017)GGG>TGG	p.G339W		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	339						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GTGTAAAGATGGGAAAAACTG	0.363			NA											12	52					0.00010058	0.000630464	0.00136819	1	0
LRP1B	53353	broad.mit.edu	37	2	141081590	141081590	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:141081590T>C	uc002tvj.1	-	81	13358	c.12386A>G	c.(12385-12387)TAT>TGT	p.Y4129C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4129	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTGCTCCATATATATAATC	0.299	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			30	88					0	0	0.00178596	0	0
RND3	390	broad.mit.edu	37	2	151343252	151343252	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:151343252T>A	uc002txe.2	-	2	438	c.194A>T	c.(193-195)GAA>GTA	p.E65V	RND3_uc002txf.2_Missense_Mutation_p.E65V|RND3_uc002txg.2_Missense_Mutation_p.E65V|RND3_uc010zbv.1_Missense_Mutation_p.E65V|RND3_uc010zbw.1_5'UTR	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	65					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTGTCGATTTCAAAACTGGC	0.498			NA											23	189					0	0	0.001512	0	0
GPD2	2820	broad.mit.edu	37	2	157435653	157435653	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:157435653G>T	uc002tzf.3	+	15	2296	c.1936G>T	c.(1936-1938)GTT>TTT	p.V646F	GPD2_uc010zch.1_Missense_Mutation_p.V419F|GPD2_uc002tzd.3_Missense_Mutation_p.V646F|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	646	EF-hand 1.				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						TATTACCATTGTTGATGTTCA	0.323			NA											58	160					2.165e-29	2.20796e-28	0.000781405	1	0
HOXD8	3234	broad.mit.edu	37	2	176995628	176995628	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:176995628G>C	uc002uko.2	+	1	1152	c.534G>C	c.(532-534)CAG>CAC	p.Q178H	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_5'UTR|HOXD8_uc002ukp.2_Missense_Mutation_p.Q178H	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	178					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACTTAAATCAGAGCTCGTCTC	0.463			NA											28	69					0	0	0.001512	0	0
CERKL	375298	broad.mit.edu	37	2	182423393	182423393	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:182423393G>T	uc002unx.2	-	6	899	c.798C>A	c.(796-798)GCC>GCA	p.A266A	CERKL_uc002uny.2_Silent_p.A240A|CERKL_uc010zfm.1_Silent_p.A222A|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.A35A|CERKL_uc002uoe.2_Silent_p.A240A	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	266	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAAAGCATGGGCTACTTCGC	0.448			NA											21	55					3.8784e-16	3.48514e-15	0.00188189	1	0
ANKAR	150709	broad.mit.edu	37	2	190569878	190569878	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:190569878A>G	uc002uqw.1	+	7	1625	c.1625A>G	c.(1624-1626)TAT>TGT	p.Y542C	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	613	ANK 3.					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GCCGCTTTCTATGACAACGTT	0.413			NA											43	93					0	0	0.000437636	0	0
DNAH7	56171	broad.mit.edu	37	2	196774919	196774919	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:196774919T>A	uc002utj.3	-	25	4037	c.3936A>T	c.(3934-3936)AGA>AGT	p.R1312S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1312	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CAAATAAGGTTCTGAAACATA	0.408			NA											10	21					0	0	0.000673444	0	0
ERBB4	2066	broad.mit.edu	37	2	212248358	212248358	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:212248358G>T	uc002veg.1	-	28	4007	c.3909C>A	c.(3907-3909)CAC>CAA	p.H1303Q	ERBB4_uc002veh.1_Missense_Mutation_p.H1287Q|ERBB4_uc010zji.1_Missense_Mutation_p.H1293Q|ERBB4_uc010zjj.1_Missense_Mutation_p.H1277Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1303	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGTATTCCGGTGTCTGTAAG	0.537			NA								TSP Lung(8;0.080)			19	53					4.96729e-08	3.48796e-07	0.00121646	1	0
TMEM169	92691	broad.mit.edu	37	2	216964934	216964934	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:216964934A>G	uc010zjr.1	+	4	889	c.563A>G	c.(562-564)TAC>TGC	p.Y188C	TMEM169_uc010zjs.1_Missense_Mutation_p.Y188C|TMEM169_uc002vfw.2_Missense_Mutation_p.Y188C|TMEM169_uc002vfv.3_Missense_Mutation_p.Y188C	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	188	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCACCTGGTACAACATCTTC	0.502			NA											65	126					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996758	228996758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:228996758G>A	uc002vpq.2	-	2	123	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.Q26*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.Q26*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	26						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCTGCCCTGCTGCGGTTCC	0.488			NA											35	92					0	0	0.00148497	0	0
UGT1A10	54575	broad.mit.edu	37	2	234546000	234546000	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:234546000C>A	uc002vur.2	+	1	878	c.832C>A	c.(832-834)CAT>AAT	p.H278N	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.H278N	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	278					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)|skin(1)	3		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATCAACTGTCATCAGGGAAA	0.413			NA											76	224					5.02048e-33	5.24497e-32	0.000781405	1	0
KIAA0406	9675	broad.mit.edu	37	20	36640312	36640312	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:36640312T>A	uc002xhl.2	-	3	2116	c.1907A>T	c.(1906-1908)CAG>CTG	p.Q636L	KIAA0406_uc002xhm.2_Missense_Mutation_p.Q636L	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	636							binding				0		Myeloproliferative disorder(115;0.00874)				ATATGCAAACTGGCCAATTCC	0.433			NA											64	55					0	0	0.000781405	0	0
ZNF217	7764	broad.mit.edu	37	20	52192804	52192804	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:52192804G>A	uc002xwq.3	-	3	2770	c.2499C>T	c.(2497-2499)GCC>GCT	p.A833A	ZNF217_uc010gij.1_Silent_p.A825A	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	833					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTTGCCTGGTGGCGGCCCCTT	0.517			NA											65	78					0	0	0.000781405	0	0
PCK1	5105	broad.mit.edu	37	20	56136641	56136641	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:56136641C>A	uc002xyn.3	+	2	337	c.174C>A	c.(172-174)GGC>GGA	p.G58G	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	58					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGCTTCTGGGCCAGATGGAGG	0.602			NA											11	111					1.58986e-06	1.0925e-05	0.000673444	1	0
PCK1	5105	broad.mit.edu	37	20	56138656	56138656	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:56138656G>A	uc002xyn.3	+	6	997	c.834G>A	c.(832-834)AAG>AAA	p.K278K	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	278					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTGAGAAGAAGTACCTGGCGG	0.557			NA											9	50					0	0	0.000442599	0	0
SS18L1	26039	broad.mit.edu	37	20	60736500	60736500	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:60736500G>T	uc002ycb.2	+	4	295	c.240G>T	c.(238-240)ACG>ACT	p.T80T	SS18L1_uc011aaa.1_Silent_p.T80T|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA	NM_198935	NP_945173	O75177	CREST_HUMAN	SS18-like protein 1	80	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore				ovary(2)	2	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCCGCCCACGCAGAACATGA	0.622			NA	T	SSX1	synovial sarcoma								6	39					0.00116845	0.00711589	0.00116845	1	0
DIDO1	11083	broad.mit.edu	37	20	61512066	61512066	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:61512066G>T	uc002ydr.1	-	16	5506	c.5242C>A	c.(5242-5244)CCC>ACC	p.P1748T	DIDO1_uc002yds.1_Missense_Mutation_p.P1748T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1748	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TGAAACGGGGGCTGAGAGCCC	0.677	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)		NA											11	66					9.31168e-06	6.26466e-05	0.00185496	1	0
TPTE	7179	broad.mit.edu	37	21	10970031	10970031	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:10970031C>T	uc002yip.1	-	6	465	c.97G>A	c.(97-99)GAG>AAG	p.E33K	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.E33K|TPTE_uc002yir.1_Missense_Mutation_p.E33K|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	33					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGCCTCCTCGGTTGCTCCT	0.393			NA											39	143					0	0	0.000437636	0	0
SYNJ1	8867	broad.mit.edu	37	21	34037310	34037310	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:34037310G>A	uc002yqh.2	-	18	2334	c.2334C>T	c.(2332-2334)AAC>AAT	p.N778N	SYNJ1_uc011ads.1_Silent_p.N734N|SYNJ1_uc002yqf.2_Silent_p.N739N|SYNJ1_uc002yqg.2_Silent_p.N734N|SYNJ1_uc002yqi.2_Silent_p.N778N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	739	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TAACTTCTTCGTTAGGGAGAT	0.353			NA											9	32					0	0	0.000978159	0	0
RUNX1	861	broad.mit.edu	37	21	36231782	36231782	+	Missense_Mutation	SNP	C	C	T	rs74315450		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:36231782C>T	uc002yuh.2	-	3	2099	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	RUNX1_uc002yui.2_Missense_Mutation_p.R174Q|RUNX1_uc010gmu.2_Missense_Mutation_p.R201Q|RUNX1_uc010gmv.2_Missense_Mutation_p.R201Q|RUNX1_uc002yuj.3_Missense_Mutation_p.R69Q|RUNX1_uc002yuk.3_Missense_Mutation_p.R201Q|RUNX1_uc002yum.1_Missense_Mutation_p.R69Q|RUNX1_uc010gmw.1_Missense_Mutation_p.R201Q|RUNX1_uc002yuo.1_Missense_Mutation_p.R174Q|RUNX1_uc002yur.1_Missense_Mutation_p.R69Q|uc002yus.1_RNA	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	174	Interaction with DNA.|Runt.		R -> Q (in FPDMM; impaired phosphorylation).	R->A: Strongly reduces DNA-binding.|Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R201Q(7)|p.T174T(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TCGAGGTTCTCGGGGCCCATC	0.552			NA	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				38	67					0	0	0.00128727	0	0
IGLL1	3543	broad.mit.edu	37	22	23915496	23915496	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr22:23915496C>A	uc002zxd.2	-	3	717	c.599G>T	c.(598-600)GGG>GTG	p.G200V	IGLL1_uc002zxe.2_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1 isoform	200	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane					0						CACGGTGCTCCCTTCGTGCAT	0.627			NA											12	34					0.00010058	0.000630464	0.00136819	1	0
PARVG	64098	broad.mit.edu	37	22	44592093	44592093	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr22:44592093G>T	uc011aqe.1	+	10	1066	c.642G>T	c.(640-642)GAG>GAT	p.E214D	PARVG_uc003bep.2_Missense_Mutation_p.E214D|PARVG_uc011aqf.1_Missense_Mutation_p.E214D|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	214	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				CAGTGAAAGAGGTAGGAGAGA	0.527			NA											14	51					9.31168e-06	6.26466e-05	0.00185496	1	0
CACNA1D	776	broad.mit.edu	37	3	53752354	53752354	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:53752354T>A	uc003dgv.3	+	10	1580	c.1417T>A	c.(1417-1419)TCT>ACT	p.S473T	CACNA1D_uc003dgu.3_Missense_Mutation_p.S473T|CACNA1D_uc003dgy.3_Missense_Mutation_p.S473T|CACNA1D_uc003dgw.3_Missense_Mutation_p.S120T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	473	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAGACTGAGTCTGTGAACAC	0.622			NA											25	36					0	0	0.001512	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596628	97596628	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:97596628A>T	uc003drx.2	+	1	810	c.746A>T	c.(745-747)TAT>TTT	p.Y249F		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						AAGAATTCATATGTGATGCCA	0.448			NA											12	12					0	0	0.00185496	0	0
GPR128	84873	broad.mit.edu	37	3	100373882	100373882	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:100373882C>T	uc003duc.2	+	12	1851	c.1583C>T	c.(1582-1584)GCG>GTG	p.A528V	GPR128_uc011bhc.1_Missense_Mutation_p.A229V|GPR128_uc003dud.2_Missense_Mutation_p.A51V	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	528	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						ATGTGCACTGCGATTGCCGCC	0.438	Pancreas(87;185 1975 7223 18722)		NA											20	116					0	0	0.00152264	0	0
TIGIT	201633	broad.mit.edu	37	3	114014445	114014445	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:114014445G>A	uc003ebg.1	+	2	149	c.115G>A	c.(115-117)GGC>AGC	p.G39S		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	39	Extracellular (Potential).|Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1						AGAGAAAGGTGGCTCTATCAT	0.522			NA											62	87					0	0	0.000781405	0	0
MYLK	4638	broad.mit.edu	37	3	123457878	123457878	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:123457878G>A	uc003ego.2	-	7	736	c.454C>T	c.(454-456)CGT>TGT	p.R152C	MYLK_uc011bjw.1_Missense_Mutation_p.R152C|MYLK_uc003egp.2_Missense_Mutation_p.R152C|MYLK_uc003egq.2_Missense_Mutation_p.R152C|MYLK_uc003egr.2_Missense_Mutation_p.R152C|MYLK_uc003egs.2_5'UTR|MYLK_uc010hrs.1_Missense_Mutation_p.R152C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	152					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTAGGACGGGTCTCCACT	0.527			NA											6	17					0	0	0.000274275	0	0
BFSP2	8419	broad.mit.edu	37	3	133119189	133119189	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:133119189C>T	uc003epn.1	+	1	400	c.262C>T	c.(262-264)CTG>TTG	p.L88L		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	88	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						CCTTCAGGGCCTGCGGAGCTC	0.642			NA											28	26					0	0	0.000878237	0	0
ACAP2	23527	broad.mit.edu	37	3	195022341	195022341	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:195022341G>C	uc003fun.3	-	15	1599	c.1358C>G	c.(1357-1359)TCT>TGT	p.S453C		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	453	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TAAAGTTAAAGATCGTACTTT	0.323			NA											28	36					0	0	0.001512	0	0
PDE6B	5158	broad.mit.edu	37	4	628465	628465	+	Splice_Site	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:628465G>T	uc003gap.2	+	2	522	c.469_splice	c.e2-1	p.C157_splice	PDE6B_uc003gao.3_Splice_Site_p.C157_splice	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1						cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TCTTGCGGCAGTGCCCTCACT	0.582	GBM(71;463 1194 9848 25922 46834)		NA											31	48					1.61788e-16	1.46407e-15	0.000409698	1	0
DRD5	1816	broad.mit.edu	37	4	9784934	9784934	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:9784934C>T	uc003gmb.3	+	1	1677	c.1281C>T	c.(1279-1281)AAC>AAT	p.N427N		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	427	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGTGGACAACGACGAGGAGG	0.572			NA											8	53					0	0	0.000157383	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356304	40356304	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:40356304G>T	uc003gva.1	+	5	1223	c.1207G>T	c.(1207-1209)GAC>TAC	p.D403Y		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	403	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	CTTAAAGAACGACCTGGGCTG	0.483	Esophageal Squamous(115;1297 1602 22235 25158 43327)		NA											22	39					4.35082e-09	3.19474e-08	0.00152264	1	0
APBB2	323	broad.mit.edu	37	4	41016079	41016079	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:41016079T>C	uc003gvl.2	-	6	986	c.356A>G	c.(355-357)AAC>AGC	p.N119S	APBB2_uc003gvm.2_Missense_Mutation_p.N119S|APBB2_uc003gvn.2_Missense_Mutation_p.N119S|APBB2_uc011byt.1_Missense_Mutation_p.N102S	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	119					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						CAGGTTTTTGTTGGGGTCCTG	0.537	Ovarian(3;20 75 16686 49997)		NA											18	47					0	0	0.00074312	0	0
KIT	3815	broad.mit.edu	37	4	55594049	55594049	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:55594049T>C	uc010igr.2	+	12	1922	c.1835T>C	c.(1834-1836)ATT>ACT	p.I612T	KIT_uc010igs.2_Missense_Mutation_p.I608T|KIT_uc010igt.1_Missense_Mutation_p.I61T	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	612	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGGCTTAATTAAGTCAGAT	0.483			1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				16	49					0	0	0.00152264	0	0
EPHA5	2044	broad.mit.edu	37	4	66213797	66213797	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:66213797G>T	uc003hcy.2	-	15	2826	c.2633C>A	c.(2632-2634)CCC>CAC	p.P878H	EPHA5_uc003hcx.2_Missense_Mutation_p.P810H|EPHA5_uc003hcz.2_Missense_Mutation_p.P856H|EPHA5_uc011cah.1_Missense_Mutation_p.P879H|EPHA5_uc011cai.1_Missense_Mutation_p.P857H|EPHA5_uc003hda.2_Missense_Mutation_p.P879H	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	878	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CTCCCAGTAGGGTCTCTCTCC	0.418			NA								TSP Lung(17;0.13)			36	75					1.04594e-18	9.60023e-18	0.00128727	1	0
IL21	59067	broad.mit.edu	37	4	123542199	123542199	+	Translation_Start_Site	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:123542199G>A	uc003ies.2	-	1	13	c.-32C>T	c.(-34--30)AACGA>AATGA		uc003iet.2_RNA|IL21_uc010int.2_Translation_Start_Site	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21						cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0						CCTTGGTCTCGTTTTCACTTC	0.463			NA											8	46					0	0	0.000157383	0	0
CDH12	1010	broad.mit.edu	37	5	21752007	21752007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:21752007C>A	uc010iuc.2	-	12	2682	c.2224G>T	c.(2224-2226)GAA>TAA	p.E742*	CDH12_uc011cno.1_Nonsense_Mutation_p.E702*|CDH12_uc003jgk.2_Nonsense_Mutation_p.E742*|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	742	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCACTCCCTTCGTAGGCATAT	0.507			NA								HNSCC(59;0.17)			28	70					2.12542e-12	1.77348e-11	0.00106085	1	0
CDH10	1008	broad.mit.edu	37	5	24509754	24509754	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:24509754C>A	uc003jgr.1	-	7	1509	c.1177G>T	c.(1177-1179)GTT>TTT	p.V393F	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	393	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTCATGAACTTCAAACAGA	0.378			NA								HNSCC(23;0.051)			16	31					7.07596e-05	0.000452369	0.00074312	1	0
TMEM171	134285	broad.mit.edu	37	5	72419515	72419515	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:72419515G>T	uc003kcm.2	+	2	519	c.315G>T	c.(313-315)GAG>GAT	p.E105D	TMEM171_uc003kcn.3_Missense_Mutation_p.E105D	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	105						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTGTGGAGAGAGCCGCCAGT	0.612	NSCLC(112;638 2280 27369 30736)		NA											20	50					7.45023e-12	5.9463e-11	0.00152264	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:128863519A>T	uc003kvb.1	+	5	1147	c.1147A>T	c.(1147-1149)ACT>TCT	p.T383S	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308			NA											5	88					0	0	0.000157383	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167779	140167779	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:140167779G>A	uc003lhb.2	+	1	1904	c.1904G>A	c.(1903-1905)CGT>CAT	p.R635H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R635H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACTCGTGTCCTGGAC	0.647			NA											28	51					0	0	0.000878237	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389282	140389282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:140389282C>A	uc003lii.2	+	4	3024	c.2784C>A	c.(2782-2784)TAC>TAA	p.Y928*	PCDHA1_uc003lha.2_Nonsense_Mutation_p.Y607*|PCDHA1_uc003lhb.2_Nonsense_Mutation_p.Y871*|PCDHA2_uc003lhd.2_Nonsense_Mutation_p.Y869*|PCDHA3_uc003lhf.2_Nonsense_Mutation_p.Y871*|PCDHA4_uc003lhi.2_Nonsense_Mutation_p.Y868*|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.Y868*|PCDHA5_uc003lhk.1_Nonsense_Mutation_p.Y857*|PCDHA5_uc003lhl.2_Nonsense_Mutation_p.Y857*|PCDHA6_uc003lhn.2_Nonsense_Mutation_p.Y607*|PCDHA6_uc003lho.2_Nonsense_Mutation_p.Y871*|PCDHA7_uc003lhq.2_Nonsense_Mutation_p.Y858*|PCDHA8_uc003lhs.2_Nonsense_Mutation_p.Y871*|PCDHA9_uc003lhu.2_Nonsense_Mutation_p.Y871*|PCDHA10_uc003lhw.2_Nonsense_Mutation_p.Y606*|PCDHA10_uc003lhx.2_Nonsense_Mutation_p.Y869*|PCDHA11_uc003lia.2_Nonsense_Mutation_p.Y870*|PCDHA12_uc003lic.2_Nonsense_Mutation_p.Y862*|PCDHA13_uc003lie.1_Nonsense_Mutation_p.Y871*|PCDHA13_uc003lif.2_Nonsense_Mutation_p.Y871*|PCDHAC1_uc003lih.2_Nonsense_Mutation_p.Y884*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	928	4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTAAATACGGACCAGGCA	0.507	Melanoma(190;638 2083 3390 11909 52360)		NA											25	62					7.07758e-08	4.94277e-07	0.000720815	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725707	140725707	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:140725707G>A	uc003ljm.1	+	1	2107	c.2107G>A	c.(2107-2109)GTC>ATC	p.V703I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.V463I|PCDHGA3_uc011dap.1_Missense_Mutation_p.V703I	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	703	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTCCTGCGTCTTCCTGGC	0.682			NA											17	91					0	0	0.00188189	0	0
NDST1	3340	broad.mit.edu	37	5	149901013	149901013	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:149901013G>T	uc003lsk.3	+	2	699	c.197G>T	c.(196-198)CGC>CTC	p.R66L	NDST1_uc011dcj.1_Missense_Mutation_p.R66L|NDST1_uc003lsl.2_Missense_Mutation_p.R66L	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	66	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCCCAGTCGCCTGCTGCCA	0.672			NA											11	31					3.86212e-05	0.000248141	0.000673444	1	0
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:169474616C>T	uc003maf.2	+	40	4149	c.4069C>T	c.(4069-4071)CGG>TGG	p.R1357W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R849W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542			NA											7	30					0	0	8.12818e-05	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634657	178634657	+	Missense_Mutation	SNP	C	C	T	rs143764421	byFrequency	TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:178634657C>T	uc003mjw.2	-	4	748	c.748G>A	c.(748-750)GCC>ACC	p.A250T	ADAMTS2_uc011dgm.1_Missense_Mutation_p.A250T	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	250					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGCTGTTGGCGTGCTCCTCT	0.662			NA											10	61					0	0	0.000442599	0	0
RREB1	6239	broad.mit.edu	37	6	7231254	7231254	+	Silent	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:7231254A>T	uc003mxc.2	+	10	3312	c.2922A>T	c.(2920-2922)GCA>GCT	p.A974A	RREB1_uc003mxb.2_Silent_p.A974A|RREB1_uc010jnx.2_Silent_p.A974A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	974	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTGCCCAGCACCCGGCCCTT	0.662			NA											13	26					0	0	0.00136819	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197336	26197336	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:26197336G>A	uc003ngv.2	-	2	540	c.143C>T	c.(142-144)GCT>GTT	p.A48V	HIST1H2BF_uc003ngx.2_5'Flank	NM_003530	NP_003521	P68431	H31_HUMAN	histone cluster 1, H3d	48					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				CTCGCGCAGAGCCACCGTGCC	0.637	GBM(108;3816 4467)		NA											17	63					0	0	0.000566183	0	0
GABBR1	2550	broad.mit.edu	37	6	29577119	29577119	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:29577119C>A	uc003nmt.3	-	15	2082	c.1746G>T	c.(1744-1746)AAG>AAT	p.K582N	GABBR1_uc003nmp.3_Missense_Mutation_p.K465N|GABBR1_uc003nms.3_Missense_Mutation_p.K465N|GABBR1_uc003nmu.3_Missense_Mutation_p.K520N|GABBR1_uc011dlr.1_Missense_Mutation_p.K405N|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	582	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	AGCGGAATGTCTTGATGACCA	0.393			NA											19	41					2.4624e-09	1.81849e-08	0.00121646	1	0
C4A	720	broad.mit.edu	37	6	31963559	31963559	+	Missense_Mutation	SNP	A	A	G	rs147162052		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:31963559A>G	uc011doy.1	+	25	3269	c.3218A>G	c.(3217-3219)GAC>GGC	p.D1073G	C4A_uc011doz.1_Missense_Mutation_p.D1073G	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1073					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						TTGTCACGGGACAGCAGCACC	0.612			NA											3	62					0	0	6.4e-05	0	0
CPNE5	57699	broad.mit.edu	37	6	36710132	36710132	+	Silent	SNP	C	C	A	rs144328823		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:36710132C>A	uc003omr.1	-	21	1762	c.1695G>T	c.(1693-1695)CCG>CCT	p.P565P	CPNE5_uc003omp.1_Silent_p.P273P|CPNE5_uc010jwn.1_Silent_p.P215P|CPNE5_uc003omq.1_Silent_p.P215P	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	565										skin(1)	1						GTGGGGGACGCGGGCGAATGC	0.682			NA											21	43					2.21704e-12	1.83799e-11	0.000375601	1	0
TTBK1	84630	broad.mit.edu	37	6	43251598	43251598	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:43251598C>A	uc003ouq.1	+	14	3399	c.3120C>A	c.(3118-3120)ATC>ATA	p.I1040I		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1040						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGCCACCATCTCCCCCAGAC	0.662			NA											9	32					9.70103e-10	7.42013e-09	0.000673444	1	0
GCLC	2729	broad.mit.edu	37	6	53365045	53365045	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:53365045C>A	uc003pbw.1	-	14	1969	c.1581G>T	c.(1579-1581)AAG>AAT	p.K527N	GCLC_uc003pbv.1_Missense_Mutation_p.K251N	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	527					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ACCCTCCTACCTTCCCATTGA	0.557			NA											25	54					3.28513e-13	2.83315e-12	0.000586117	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90577242	90577242	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:90577242G>T	uc003pnr.2	+	8	4429	c.4233G>T	c.(4231-4233)GTG>GTT	p.V1411V	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.V1411V|CASP8AP2_uc011dzz.1_Silent_p.V1411V	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1411					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTTTGAAGTGTCTACTAACC	0.383	Colon(187;1656 2025 17045 31481 39901)		NA											35	43					1.36161e-19	1.27713e-18	0.000814825	1	0
HEY2	23493	broad.mit.edu	37	6	126080624	126080624	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:126080624G>A	uc003qad.2	+	5	881	c.690G>A	c.(688-690)ACG>ACA	p.T230T	HEY2_uc011ebr.1_Silent_p.T184T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	230					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCACGGCCACGTTTGCCCATG	0.642			NA											37	215					0	0	0.00148497	0	0
SYNE1	23345	broad.mit.edu	37	6	152651835	152651835	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:152651835T>A	uc010kiw.2	-	78	14587	c.13985A>T	c.(13984-13986)AAG>ATG	p.K4662M	SYNE1_uc003qot.3_Missense_Mutation_p.K4591M|SYNE1_uc003qou.3_Missense_Mutation_p.K4662M|SYNE1_uc010kiz.2_Missense_Mutation_p.K417M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4662	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTATAGAACTTGTCTTTAGC	0.403			NA								HNSCC(10;0.0054)			22	72					0	0	0.000295444	0	0
TULP4	56995	broad.mit.edu	37	6	158919845	158919845	+	Splice_Site	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:158919845G>A	uc003qrf.2	+	12	3371	c.2014_splice	c.e12+1	p.V672_splice	TULP4_uc003qrg.2_Splice_Site_p.G672_splice	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1						intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATTTACCAGGTGTGTTCACA	0.423			NA											6	110					0	0	0.000442599	0	0
LPA	4018	broad.mit.edu	37	6	161020611	161020611	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:161020611C>G	uc003qtl.2	-	21	3328	c.3208G>C	c.(3208-3210)GTC>CTC	p.V1070L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3578	Kringle 32.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTTCCTGTGACAGTGGTGGAG	0.483			NA											163	274					0	0	0.000781405	0	0
WDR27	253769	broad.mit.edu	37	6	170068177	170068177	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:170068177C>G	uc003qwx.2	-	5	1081	c.561G>C	c.(559-561)CGG>CGC	p.R187R	WDR27_uc010kkw.1_Silent_p.R187R|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Intron			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	157										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCAGCTCGGCCCGAACAGCCT	0.577			NA											7	19					0	0	0.000157383	0	0
GLI3	2737	broad.mit.edu	37	7	42005353	42005353	+	Silent	SNP	T	T	A	rs148780793		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:42005353T>A	uc011kbh.1	-	15	3409	c.3318A>T	c.(3316-3318)GCA>GCT	p.A1106A	GLI3_uc011kbg.1_Silent_p.A1047A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1106					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCTCGTACCCTGCTTGGTTCT	0.622			NA							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				18	68					0	0	0.000958276	0	0
ZNF716	441234	broad.mit.edu	37	7	57529325	57529325	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:57529325C>G	uc011kdi.1	+	4	1270	c.1158C>G	c.(1156-1158)GGC>GGG	p.G386G		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						AAGAATGTGGCAAAGCCTTTA	0.418			NA											12	24					0	0	0.000978159	0	0
MUC17	140453	broad.mit.edu	37	7	100677772	100677772	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:100677772C>A	uc003uxp.1	+	3	3128	c.3075C>A	c.(3073-3075)CCC>CCA	p.P1025P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1025	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTCCTCCCACTGCTGAAG	0.512			NA											11	447					0.00136819	0.00829306	0.00136819	1	0
SLC26A4	5172	broad.mit.edu	37	7	107315451	107315451	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:107315451G>T	uc003vep.2	+	6	886	c.662G>T	c.(661-663)GGT>GTT	p.G221V		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	221	Helical; (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						CCTTTGGTTGGTGGCTTCACA	0.408			NA							Pendred_syndrome				57	117					7.38948e-41	7.84751e-40	0.000781405	1	0
LAMB4	22798	broad.mit.edu	37	7	107732132	107732132	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:107732132G>A	uc010ljo.1	-	14	1724	c.1640C>T	c.(1639-1641)CCT>CTT	p.P547L	LAMB4_uc003vey.2_Missense_Mutation_p.P547L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	547	Laminin EGF-like 5; truncated.|Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GAAATTCAAAGGAGCAAAGAA	0.502			NA											17	78					0	0	0.000422831	0	0
PRSS1	5644	broad.mit.edu	37	7	142460344	142460344	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:142460344G>C	uc003wak.2	+	4	534	c.517G>C	c.(517-519)GCC>CCC	p.A173P	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.A113P	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	173	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TAAGTGTGAAGCCTCCTACCC	0.522			NA							Hereditary_Pancreatitis				27	291					0	0	0.00128727	0	0
TRPV6	55503	broad.mit.edu	37	7	142572292	142572292	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:142572292G>C	uc003wbx.1	-	11	1620	c.1404C>G	c.(1402-1404)TTC>TTG	p.F468L	TRPV6_uc003wbw.1_Missense_Mutation_p.F254L|TRPV6_uc010lou.1_Missense_Mutation_p.F339L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	468	Helical; (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					ATCCTCGGGCGAAGTACATGA	0.572			NA											10	76					0	0	0.000442599	0	0
FAM131B	9715	broad.mit.edu	37	7	143054005	143054005	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:143054005C>A	uc003wct.2	-	6	2343	c.637G>T	c.(637-639)GCC>TCC	p.A213S	FAM131B_uc010loz.2_Missense_Mutation_p.A181S|FAM131B_uc003wcu.3_Missense_Mutation_p.A213S|FAM131B_uc010lpa.2_Missense_Mutation_p.A241S	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	213											0	Melanoma(164;0.205)					GCCGGAGAGGCAATGAGGGAC	0.552			NA											25	33					3.08376e-08	2.21376e-07	0.00047179	1	0
ABCB8	11194	broad.mit.edu	37	7	150730846	150730846	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:150730846C>A	uc003wil.3	+	3	394	c.301C>A	c.(301-303)CTG>ATG	p.L101M	ABCB8_uc003wii.2_Missense_Mutation_p.L121M|ABCB8_uc003wij.3_Missense_Mutation_p.L84M|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.L84M|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.L84M	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	101	Helical; (Potential).					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCATGGTACTGAGTAAGCA	0.657			NA											9	57					3.86212e-05	0.000248141	0.000673444	1	0
KCNU1	157855	broad.mit.edu	37	8	36766902	36766902	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:36766902C>A	uc010lvw.2	+	21	2267	c.2180C>A	c.(2179-2181)GCC>GAC	p.A727D	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	727	Segment S9.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCCACTCAGCCCCGATGGGG	0.468			NA											158	125					3.59702e-68	3.85181e-67	0.000781405	1	0
PXDNL	137902	broad.mit.edu	37	8	52321470	52321470	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:52321470C>G	uc003xqu.3	-	17	2815	c.2714G>C	c.(2713-2715)CGG>CCG	p.R905P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	905					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGGATTCCCGCTCCGAGCT	0.582			NA											9	47					0	0	0.000673444	0	0
LYN	4067	broad.mit.edu	37	8	56911984	56911984	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:56911984G>C	uc003xsk.3	+	12	1494	c.1212G>C	c.(1210-1212)AAG>AAC	p.K404N	LYN_uc003xsl.3_Missense_Mutation_p.K383N	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	404	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TAGGTGCTAAGTTCCCTATTA	0.353			NA											9	128					0	0	0.000978159	0	0
TRPA1	8989	broad.mit.edu	37	8	72970051	72970051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:72970051C>A	uc003xza.2	-	9	1169	c.994G>T	c.(994-996)GGA>TGA	p.G332*		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	332	ANK 8.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ATATCTGCTCCCTAAAAATCA	0.323			NA											32	31					2.85442e-18	2.60136e-17	0.000339439	1	0
RGS22	26166	broad.mit.edu	37	8	100975116	100975116	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:100975116C>A	uc003yjb.1	-	25	3901	c.3706G>T	c.(3706-3708)GCA>TCA	p.A1236S	RGS22_uc003yja.1_Missense_Mutation_p.A1055S|RGS22_uc003yjc.1_Missense_Mutation_p.A1224S	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1236					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAATTACCTGCAAACAACTTT	0.308			NA											5	78					0.000602214	0.00370261	0.000602214	1	0
TRPS1	7227	broad.mit.edu	37	8	116426987	116426987	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:116426987A>T	uc003ynz.2	-	6	3569	c.3110T>A	c.(3109-3111)ATT>AAT	p.I1037N	TRPS1_uc011lhy.1_Missense_Mutation_p.I1041N|TRPS1_uc003yny.2_Missense_Mutation_p.I1050N|TRPS1_uc010mcy.2_Missense_Mutation_p.I1037N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1037	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTATCTGAATGTGCAAAGG	0.448			NA							Langer-Giedion_syndrome				18	190					0	0	0.000958276	0	0
TRPS1	7227	broad.mit.edu	37	8	116632147	116632147	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:116632147C>A	uc003ynz.2	-	2	598	c.139G>T	c.(139-141)GAT>TAT	p.D47Y	TRPS1_uc011lhy.1_Missense_Mutation_p.D51Y|TRPS1_uc003yny.2_Missense_Mutation_p.D60Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D47Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	47					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCACTCTGATCCGTATTTTCT	0.428			NA							Langer-Giedion_syndrome				62	46					1.69475e-38	1.78505e-37	0.000781405	1	0
FAM135B	51059	broad.mit.edu	37	8	139255183	139255183	+	Splice_Site	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:139255183A>G	uc003yuy.2	-	7	840	c.669_splice	c.e7+1	p.E223_splice	FAM135B_uc003yux.2_Splice_Site_p.E124_splice|FAM135B_uc003yuz.2_Splice_Site	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059											ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGGCCTTACCTCTGAGGA	0.458			NA								HNSCC(54;0.14)			14	110					0	0	0.00074312	0	0
EPPK1	83481	broad.mit.edu	37	8	144940555	144940555	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:144940555C>G	uc003zaa.1	-	2	14890	c.14877G>C	c.(14875-14877)GCG>GCC	p.A4959A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4959	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACCACGCCCGCGGCCACGG	0.726			NA											8	98					0	0	0.000673444	0	0
PTPRD	5789	broad.mit.edu	37	9	8486234	8486234	+	Silent	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:8486234G>C	uc003zkk.2	-	27	3294	c.2583C>G	c.(2581-2583)GGC>GGG	p.G861G	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.G852G|PTPRD_uc003zkm.2_Silent_p.G848G|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	861	Fibronectin type-III 6.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCCTTGCGGCCAAATTTTA	0.468			NA								TSP Lung(15;0.13)			42	38					0	0	0.000437636	0	0
Unknown	0	broad.mit.edu	37	9	69440203	69440203	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:69440203A>G	uc010mnx.1	+	3	456	c.287A>G	c.(286-288)CAT>CGT	p.H96R		NM_001098806	NP_001092276			coiled-coil domain containing 29												NA						CTTAAGACACATATGGAAAAC	0.299			NA											31	51					0	0	0.00178596	0	0
ASTN2	23245	broad.mit.edu	37	9	119977013	119977013	+	Silent	SNP	G	G	T	rs7856949		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:119977013G>T	uc004bjs.1	-	3	740	c.639C>A	c.(637-639)CTC>CTA	p.L213L	ASTN2_uc004bjr.1_Silent_p.L213L|ASTN2_uc004bjt.1_Silent_p.L213L	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	213	Helical; (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCAGCGCGATGAGGCCACCCT	0.612			NA											10	33					2.68362e-12	2.21055e-11	0.00136819	1	0
ASTN2	23245	broad.mit.edu	37	9	120053696	120053696	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:120053696G>T	uc004bjs.1	-	2	640	c.539C>A	c.(538-540)TCC>TAC	p.S180Y	ASTN2_uc004bjr.1_Missense_Mutation_p.S180Y|ASTN2_uc004bjt.1_Missense_Mutation_p.S180Y	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	180	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CAGCTGCCCGGAGCTGCTCAT	0.592			NA											13	43					3.27435e-08	2.33752e-07	0.000219431	1	0
RC3H2	54542	broad.mit.edu	37	9	125618088	125618088	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:125618088C>A	uc010mwc.1	-	14	2765	c.2524G>T	c.(2524-2526)GGC>TGC	p.G842C	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.G842C|RC3H2_uc004bne.3_Missense_Mutation_p.G842C	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	842						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CCTATGGTGCCACAAGACCAG	0.378			NA											14	55					1.05317e-09	7.96073e-09	0.000219431	1	0
ABO	28	broad.mit.edu	37	9	136135254	136135254	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:136135254G>A	uc004cda.1	-	4	197	c.172C>T	c.(172-174)CCT>TCT	p.P58S	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	58	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGATGGTCAGGTTCCCTAACA	0.532			NA											5	13					0	0	0.000442599	0	0
TMEM27	57393	broad.mit.edu	37	X	15657827	15657827	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:15657827C>G	uc004cxc.1	-	5	626	c.370G>C	c.(370-372)GAA>CAA	p.E124Q		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27 precursor	124	Extracellular (Potential).				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			ovary(1)	1	Hepatocellular(33;0.183)					TTTAAAAATTCCAGAGTTTGG	0.338			NA											62	96					0	0	0.000781405	0	0
GJB1	2705	broad.mit.edu	37	X	70444128	70444128	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:70444128A>T	uc004dzf.3	+	2	666	c.571A>T	c.(571-573)ACC>TCC	p.T191S	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.T191S	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	191	Extracellular (Probable).		Missing (in CMTX1).|T -> A (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)	1	Renal(35;0.156)					AACCGTCTTCACCGTCTTCAT	0.632			NA											5	46					0	0	0.000157383	0	0
TAF1	6872	broad.mit.edu	37	X	70595136	70595136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:70595136G>T	uc004dzu.3	+	4	583	c.532G>T	c.(532-534)GAG>TAG	p.E178*	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V178L	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	178	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				TATTACTGGTGGTAAGTAGAG	0.443			NA											8	47					1.12685e-05	7.54168e-05	0.000274275	1	0
BTK	695	broad.mit.edu	37	X	100617598	100617598	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:100617598C>A	uc004ehg.2	-	6	664	c.471G>T	c.(469-471)CAG>CAT	p.Q157H	BTK_uc010nnn.2_Missense_Mutation_p.Q157H|BTK_uc010nno.2_Missense_Mutation_p.Q191H|BTK_uc004ehi.2_Missense_Mutation_p.Q157H	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	157	Btk-type.				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						TTTTGGCTGTCTGAGAGCAGC	0.433			NA							Agammaglobulinemia_X-linked				49	81					2.9001e-28	2.93436e-27	0.000781405	1	0
BTK	695	broad.mit.edu	37	X	100617612	100617612	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:100617612G>A	uc004ehg.2	-	6	650	c.457C>T	c.(457-459)CTC>TTC	p.L153F	BTK_uc010nnn.2_Missense_Mutation_p.L153F|BTK_uc010nno.2_Missense_Mutation_p.L187F|BTK_uc004ehi.2_Missense_Mutation_p.L153F	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	153	Btk-type.				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						GAGCAGCAGAGATACTGCCCA	0.433			NA							Agammaglobulinemia_X-linked				46	97					0	0	0.000781405	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449717	105449717	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:105449717A>G	uc004emf.1	+	4	941	c.292A>G	c.(292-294)AAT>GAT	p.N98D	MUM1L1_uc004emg.1_Missense_Mutation_p.N98D	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	98										ovary(2)|pancreas(1)|skin(1)	4						GGGTATTCTGAATGAGAGAAC	0.453			NA											23	23					0	0	0.000586117	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619377	108619377	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:108619377G>T	uc004eod.3	-	18	3446	c.3170C>A	c.(3169-3171)ACC>AAC	p.T1057N	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	1057	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						CAGCCAGAAGGTTTCCTCTGT	0.408			NA											7	169					6.5536e-12	5.29646e-11	0.000157383	1	0
ACSL4	2182	broad.mit.edu	37	X	108904811	108904811	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:108904811G>T	uc004eoi.2	-	15	2274	c.1769C>A	c.(1768-1770)GCT>GAT	p.A590D	ACSL4_uc004eoj.2_Missense_Mutation_p.A549D|ACSL4_uc004eok.2_Missense_Mutation_p.A549D	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	590	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	CTTCAGTGCAGCTTCTACTTT	0.333	Pancreas(188;358 2127 38547 41466 45492)		NA											8	97					2.74318e-10	2.12349e-09	0.000442599	1	0
ODZ1	10178	broad.mit.edu	37	X	123587225	123587225	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:123587225G>T	uc004euj.2	-	22	4109	c.4045C>A	c.(4045-4047)CAA>AAA	p.Q1349K	ODZ1_uc011muj.1_Missense_Mutation_p.Q1355K|ODZ1_uc010nqy.2_Missense_Mutation_p.Q1356K	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1349	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CTCAGTGGTTGTGTGGAAGTC	0.403			NA											51	69					4.02871e-13	3.45126e-12	0.000781405	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685331	125685331	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:125685331A>T	uc004eul.2	-	1	1512	c.1261T>A	c.(1261-1263)TTT>ATT	p.F421I		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	421										skin(3)|ovary(1)	4						ATGCCACCAAAGTAATTCACC	0.577			NA											13	131					0	0	0.000308642	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967567	142967567	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:142967567T>C	uc004fca.2	+	1	395	c.365T>C	c.(364-366)TTA>TCA	p.L122S		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	122							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GATGATCCATTAGCAAATGAT	0.438			NA											3	127					0	0	6.4e-05	0	0
AFF2	2334	broad.mit.edu	37	X	148048494	148048494	+	Missense_Mutation	SNP	A	A	G	rs149653283	byFrequency	TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:148048494A>G	uc004fcp.2	+	14	3567	c.3088A>G	c.(3088-3090)ATC>GTC	p.I1030V	AFF2_uc004fcq.2_Missense_Mutation_p.I1020V|AFF2_uc004fcr.2_Missense_Mutation_p.I991V|AFF2_uc011mxb.1_Missense_Mutation_p.I995V|AFF2_uc004fcs.2_Missense_Mutation_p.I995V|AFF2_uc011mxc.1_Missense_Mutation_p.I671V	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1030					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					cacctctaccatcactacTGG	0.279			NA											10	165					0	0	0.00136819	0	0
KCNA4	3739	broad.mit.edu	37	11	30033550	30033551	+	Frame_Shift_Ins	INS	-	-	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:30033550_30033551insT	uc001msk.2	-	2	1827_1828	c.675_676insA	c.(673-678)CGCCCCfs	p.R225fs		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	225_226						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAAAGCTGGGGCGGTTCCTGT	0.465			NA											47	91	---	---	---	---	NA	NA	NA	NA	NA
OR5M8	219484	broad.mit.edu	37	11	56258610	56258611	+	Frame_Shift_Ins	INS	-	-	T	rs142855645	byFrequency	TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:56258610_56258611insT	uc001nix.1	-	1	236_237	c.236_237insA	c.(235-237)AAGfs	p.K79fs		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					TCTCCAGCATCTTTGGAGTCAC	0.47			NA											34	83	---	---	---	---	NA	NA	NA	NA	NA
IL1RL1	9173	broad.mit.edu	37	2	102955384	102955387	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	ACTC	ACTC	-	-	ACTC	ACTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:102955384_102955387delACTC	uc002tbu.1	+	3	420_423	c.149_152delACTC	c.(148-153)TACTCAfs	p.Y50fs	IL1RL1_uc010ywa.1_Intron|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Frame_Shift_Del_p.Y50fs	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	50_51	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GATTGGTATTACTCACAAACAAAC	0.407			NA											15	179	---	---	---	---	NA	NA	NA	NA	NA
ABCB8	11194	broad.mit.edu	37	7	150737715	150737720	+	In_Frame_Del	DEL	GCTTCA	GCTTCA	-			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	GCTTCA	GCTTCA	-	-	GCTTCA	GCTTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:150737715_150737720delGCTTCA	uc003wil.3	+	12	1526_1531	c.1433_1438delGCTTCA	c.(1432-1440)TGCTTCAGC>TGC	p.FS479del	ABCB8_uc010lpw.1_In_Frame_Del_p.350_352CFR>W|ABCB8_uc010lpx.2_In_Frame_Del_p.FS462del|ABCB8_uc011kvd.1_In_Frame_Del_p.FS374del|ABCB8_uc003wim.3_In_Frame_Del_p.FS257del|ABCB8_uc003wik.3_In_Frame_Del_p.FS462del	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	479_480	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAACGTCTGCTTCAGGTCAGCACG	0.612			NA											9	85	---	---	---	---	NA	NA	NA	NA	NA
C9orf125	84302	broad.mit.edu	37	9	104238991	104238991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:104238991delA	uc004bbm.2	-	2	706	c.384delT	c.(382-384)CTTfs	p.L128fs	uc004bbl.1_5'Flank	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	128						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)				ATTGCTGAAGAAGCCGGTGGA	0.592			NA											13	63	---	---	---	---	NA	NA	NA	NA	NA
