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
COL8A2	1296	broad.mit.edu	37	1	36564428	36564428	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:36564428G>T	uc001bzv.1	-	2	861	c.854C>A	c.(853-855)GCA>GAA	p.A285E	COL8A2_uc001bzw.1_Missense_Mutation_p.A220E	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	285	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAACCCTGCTGCCCCTGGGAC	0.692			NA											12	29					3.07112e-06	3.48613e-06	0.010729	1	0
AKR1A1	10327	broad.mit.edu	37	1	46033774	46033774	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:46033774G>T	uc001cod.2	+	6	941	c.477G>T	c.(475-477)CTG>CTT	p.L159L	AKR1A1_uc001coe.2_Silent_p.L159L|AKR1A1_uc001cof.2_Missense_Mutation_p.W32L|AKR1A1_uc001cog.2_RNA	NM_006066	NP_006057	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1	159					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCGCTGGGCCTGTCCA	0.562			NA											4	27					0.00909568	0.00922114	0.009096	1	0
CYP4A11	1579	broad.mit.edu	37	1	47400757	47400757	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:47400757G>T	uc001cqp.3	-	6	756	c.705C>A	c.(703-705)GCC>GCA	p.A235A	CYP4A11_uc001cqq.2_Silent_p.A235A|CYP4A11_uc010omm.1_Intron	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	235					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	TCTGGTGAAAGGCATTCCTCA	0.532			NA											26	87					4.72057e-08	5.71131e-08	0.003954	1	0
LRRC40	55631	broad.mit.edu	37	1	70611486	70611486	+	Silent	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:70611486A>C	uc001der.1	-	15	1858	c.1806T>G	c.(1804-1806)ACT>ACG	p.T602T		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	602										ovary(1)	1						CTCCATGTTAAGTAGGAATTC	0.358			NA											11	26					0	0	0.001855	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507613	74507613	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:74507613C>A	uc001dfy.3	-	7	1194	c.1002G>T	c.(1000-1002)CAG>CAT	p.Q334H	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	334										ovary(2)	2						CTTCAGACTCCTGACCTACAT	0.299			NA											9	16					0.000274275	0.000289021	0.004482	1	0
VAV3	10451	broad.mit.edu	37	1	108185324	108185324	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:108185324G>T	uc001dvk.1	-	20	1885	c.1831C>A	c.(1831-1833)CTG>ATG	p.L611M	VAV3_uc010ouu.1_Missense_Mutation_p.L15M|VAV3_uc001dvj.1_Missense_Mutation_p.L51M|VAV3_uc010ouv.1_Missense_Mutation_p.L15M|VAV3_uc010ouw.1_Missense_Mutation_p.L611M	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	611	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCTTCATGCAGAGCTGGGGGT	0.433			NA											37	93					2.05212e-20	3.48742e-20	0.005524	1	0
FLG	2312	broad.mit.edu	37	1	152284875	152284876	+	Nonsense_Mutation	DNP	GG	GG	TT	rs139207952	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:152284875_152284876GG>TT	uc001ezu.1	-	3	2522_2523	c.2486_2487CC>AA	c.(2485-2487)TCC>TAA	p.S829*	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	829	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGCCTGGAGTTGTCTCG	0.569			NA							Ichthyosis				160	296					0	0	0.004672	0	0
LMNA	4000	broad.mit.edu	37	1	156084745	156084745	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:156084745C>T	uc001fni.2	+	1	285	c.36C>T	c.(34-36)AGC>AGT	p.S12S	LMNA_uc001fnf.1_Silent_p.S12S|LMNA_uc001fng.2_Silent_p.S12S|LMNA_uc001fnh.2_Silent_p.S12S|LMNA_uc009wro.1_Silent_p.S12S	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	12	Interaction with MLIP.|Head.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					CCACCCGCAGCGGGGCGCAGG	0.736			NA							Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				15	10					0	0	0.00499	0	0
CD1E	913	broad.mit.edu	37	1	158324171	158324171	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158324171C>A	uc001fse.2	+	2	302	c.63C>A	c.(61-63)CCC>CCA	p.P21P	CD1E_uc010pid.1_Silent_p.P19P|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.P21P|CD1E_uc001fsk.2_Silent_p.P21P|CD1E_uc001fsj.2_Silent_p.P21P|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.P21P|CD1E_uc001fry.2_Silent_p.P21P|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.P21P|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.P21P|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	21					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TCTCAGCTCCCCAGGCTCTAC	0.502			NA											94	98					1.76403e-45	3.22126e-45	0.00361	1	0
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158605732C>G	uc001fst.1	-	38	5602	c.5403G>C	c.(5401-5403)TGG>TGC	p.W1801C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1801	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522			NA											108	86					0	0	0.00361	0	0
OR6K6	128371	broad.mit.edu	37	1	158725228	158725228	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158725228A>T	uc001fsw.1	+	1	623	c.623A>T	c.(622-624)GAT>GTT	p.D208V		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	208	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					ATATTCTGTGATTTCACACCT	0.498			NA											16	81					0	0	0.003163	0	0
MNDA	4332	broad.mit.edu	37	1	158815601	158815601	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158815601C>A	uc001fsz.1	+	5	995	c.795C>A	c.(793-795)GTC>GTA	p.V265V		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	265	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GGAAGAAGGTCATTACCATAT	0.353			NA											45	41					6.57855e-14	9.71906e-14	0.009718	1	0
OR10J1	26476	broad.mit.edu	37	1	159410229	159410229	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:159410229T>C	uc010piv.1	+	1	681	c.681T>C	c.(679-681)TCT>TCC	p.S227S	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	227	Helical; Name=5; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					TTTTCATTTCTTATGTTCTCA	0.453			NA											36	139					0	0	0.004289	0	0
F5	2153	broad.mit.edu	37	1	169519078	169519078	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:169519078T>A	uc001ggg.1	-	10	1717	c.1572A>T	c.(1570-1572)CTA>CTT	p.L524L	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	524	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTTACAGATTAGAAGTAGTC	0.428			NA											18	89					0	0	0.008871	0	0
RGL1	23179	broad.mit.edu	37	1	183881336	183881336	+	Silent	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:183881336G>C	uc001gqo.2	+	15	1840	c.1683G>C	c.(1681-1683)TCG>TCC	p.S561S	RGL1_uc010pof.1_Silent_p.S366S|RGL1_uc001gqm.2_Silent_p.S596S|RGL1_uc010pog.1_Silent_p.S559S|RGL1_uc010poh.1_Silent_p.S559S|RGL1_uc010poi.1_Silent_p.S532S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	561	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CCTGCGAGTCGAACCACTCAG	0.532			NA											19	55					0	0	0.008871	0	0
C1orf25	81627	broad.mit.edu	37	1	185109211	185109211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:185109211C>A	uc001grf.3	-	8	1275	c.1003G>T	c.(1003-1005)GAA>TAA	p.E335*	C1orf25_uc010pon.1_Nonsense_Mutation_p.E179*	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	335						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						TCACTCTTTTCCTTTTCCTTA	0.343			NA											24	117					1.85244e-09	2.38867e-09	0.00333	1	0
TMEM81	388730	broad.mit.edu	37	1	205053097	205053097	+	Missense_Mutation	SNP	G	G	C	rs145019132	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:205053097G>C	uc001hbt.2	-	1	492	c.352C>G	c.(352-354)CGG>GGG	p.R118G		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	118	Ig-like.|Extracellular (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CAGGTGAACCGGAAAGCTTCC	0.468			NA											24	79					0	0	0.00333	0	0
DYRK3	8444	broad.mit.edu	37	1	206820932	206820932	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:206820932A>G	uc001hej.2	+	3	557	c.389A>G	c.(388-390)AAC>AGC	p.N130S	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.N110S	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	130					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTAAAATCCAACAGTTCATCC	0.418	Melanoma(164;427 2622 26826 51707)		NA											30	155					0	0	0.00632	0	0
USH2A	7399	broad.mit.edu	37	1	215960025	215960025	+	Silent	SNP	C	C	A	rs137963595	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:215960025C>A	uc001hku.1	-	52	10761	c.10374G>T	c.(10372-10374)ACG>ACT	p.T3458T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3458	Fibronectin type-III 19.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTAAGAGTACGTGTTTACAC	0.433			NA								HNSCC(13;0.011)			9	59					0.000274275	0.000289021	0.004482	1	0
EPHX1	2052	broad.mit.edu	37	1	226030140	226030140	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:226030140G>T	uc001hpk.2	+	7	1085	c.1005G>T	c.(1003-1005)ACG>ACT	p.T335T	EPHX1_uc001hpl.2_Silent_p.T335T	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	335					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					GGACCAATACGGAATTCCGAT	0.582			NA											23	51					1.77063e-15	2.69723e-15	0.005443	1	0
URB2	9816	broad.mit.edu	37	1	229772385	229772385	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:229772385A>G	uc001hts.1	+	4	2161	c.2025A>G	c.(2023-2025)GAA>GAG	p.E675E	URB2_uc009xfd.1_Silent_p.E675E	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	675						nucleolus				central_nervous_system(2)|ovary(1)	3						ATTGCTTAGAACAGCTGTACC	0.433			NA											40	139					0	0	0.005524	0	0
RYR2	6262	broad.mit.edu	37	1	237802491	237802491	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:237802491A>T	uc001hyl.1	+	46	7225	c.7105A>T	c.(7105-7107)AGT>TGT	p.S2369C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2369	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)			TAGCGGATCCAGTAAAACACT	0.423			NA											8	24					0	0	0.004482	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159549	242159549	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:242159549G>T	uc001hzk.2	-	4	435	c.360C>A	c.(358-360)GCC>GCA	p.A120A		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	120					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCCTGGGAGGCGTAGGTCA	0.567			NA											24	59					3.6726e-16	5.68287e-16	0.003954	1	0
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:247163244C>A	uc009xgu.2	-	2	281	c.136G>T	c.(136-138)GAT>TAT	p.D46Y	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.D46Y|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	46	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418			NA											10	46					3.07112e-06	3.48613e-06	0.010729	1	0
OR2M5	127059	broad.mit.edu	37	1	248308584	248308584	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:248308584G>C	uc010pze.1	+	1	135	c.135G>C	c.(133-135)ATG>ATC	p.M45I		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGTCATGGTTCTCCTCA	0.527			NA											96	223					0	0	0.00361	0	0
LARP4B	23185	broad.mit.edu	37	10	863720	863720	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:863720T>A	uc001ifs.1	-	14	1681	c.1640A>T	c.(1639-1641)GAG>GTG	p.E547V		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	547							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AAACAAGTCCTCTGTCTTCAA	0.443			NA											57	174					0	0	0.00361	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255495	15255495	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:15255495C>G	uc001iob.2	-	8	2099	c.2092G>C	c.(2092-2094)GGT>CGT	p.G698R		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	698	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GGCTTCCCACCCCCAAGCTCC	0.582			NA											29	73					0	0	0.008361	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336510	30336510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:30336510C>A	uc001iux.2	-	1	291	c.232G>T	c.(232-234)GGC>TGC	p.G78C	KIAA1462_uc001iuy.2_Missense_Mutation_p.G78C|KIAA1462_uc001iuz.2_Translation_Start_Site|KIAA1462_uc009xle.1_Missense_Mutation_p.G78C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	78										ovary(4)	4						TCCCCGTGGCCTCTCGGTGTG	0.612			NA											8	52					0.000157383	0.000168871	0.00308	1	0
JMJD1C	221037	broad.mit.edu	37	10	64967073	64967073	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:64967073G>A	uc001jmn.2	-	10	4656	c.4356C>T	c.(4354-4356)ACC>ACT	p.T1452T	JMJD1C_uc001jml.2_Silent_p.T1233T|JMJD1C_uc001jmm.2_Silent_p.T1164T|JMJD1C_uc010qiq.1_Silent_p.T1270T|JMJD1C_uc009xpi.2_Silent_p.T1270T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.T489T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1452					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGGTGCTGTGGTGCTGACCT	0.408			NA											44	101					0	0	0.011902	0	0
LDB3	11155	broad.mit.edu	37	10	88477783	88477783	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:88477783G>C	uc001kdv.2	+	10	1762	c.1739G>C	c.(1738-1740)TGC>TCC	p.C580S	LDB3_uc010qmm.1_Missense_Mutation_p.C585S|LDB3_uc001kdu.2_Missense_Mutation_p.C470S|LDB3_uc009xsz.2_Missense_Mutation_p.C209S|LDB3_uc009xta.1_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	580	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						TGTGCCTACTGCAAGACTTCC	0.547			NA											26	64					0	0	0.003954	0	0
BTAF1	9044	broad.mit.edu	37	10	93743990	93743990	+	Silent	SNP	G	G	T	rs139800193		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:93743990G>T	uc001khr.2	+	19	2354	c.2256G>T	c.(2254-2256)CCG>CCT	p.P752P	BTAF1_uc001khs.1_Silent_p.P422P|BTAF1_uc001kht.1_Silent_p.P190P	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	752					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				CTGTGCAGCCGCGTTTACTTG	0.338			NA											10	37					7.48243e-07	8.695e-07	0.006214	1	0
KIF11	3832	broad.mit.edu	37	10	94381209	94381209	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:94381209A>G	uc001kic.2	+	10	1504	c.1196A>G	c.(1195-1197)TAT>TGT	p.Y399C	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	399	Potential.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						AATGGAGTGTATATTTCTGAA	0.373	Colon(47;212 1003 2764 4062 8431)		NA											24	65					0	0	0.003954	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522526	96522526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:96522526C>T	uc010qnz.1	+	1	64	c.64C>T	c.(64-66)CAG>TAG	p.Q22*	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	22					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AATCTGGAGACAGAGCTCTGG	0.458			NA											56	121					0	0	0.00361	0	0
HPSE2	60495	broad.mit.edu	37	10	100219443	100219443	+	Missense_Mutation	SNP	G	G	T	rs138866975		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:100219443G>T	uc001kpn.1	-	12	1727	c.1667C>A	c.(1666-1668)CCA>CAA	p.P556Q	HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Missense_Mutation_p.P488Q|HPSE2_uc009xwd.1_Missense_Mutation_p.P434Q	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	556					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTTCAATTCTGGGAGGGTCCC	0.537			NA											11	19					3.86212e-05	4.2368e-05	0.008291	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196292	118196292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:118196292C>A	uc001lcl.3	+	2	220	c.119C>A	c.(118-120)ACA>AAA	p.T40K		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	40					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		ACTTTCTCAACAGAGTTGGTA	0.433			NA											22	67					1.36565e-18	2.23055e-18	0.00278	1	0
GRK5	2869	broad.mit.edu	37	10	121196210	121196210	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:121196210C>A	uc001led.2	+	9	1019	c.786C>A	c.(784-786)GTC>GTA	p.V262V	GRK5_uc009xzh.2_Silent_p.V157V|GRK5_uc010qta.1_Silent_p.V157V	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	262	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGCTTGGTCCTGACCATCA	0.552			NA											14	39					3.27435e-08	3.97793e-08	0.00245	1	0
GLRX3	10539	broad.mit.edu	37	10	131965194	131965194	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:131965194A>G	uc001lkm.1	+	6	685	c.663A>G	c.(661-663)GCA>GCG	p.A221A	GLRX3_uc001lkn.1_Silent_p.A221A|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	221	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGCTAGAAGCATCTGAAGAAC	0.289			NA											12	27					0	0	0.001368	0	0
OR52E2	119678	broad.mit.edu	37	11	5080461	5080461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:5080461G>A	uc010qyw.1	-	1	397	c.397C>T	c.(397-399)CAA>TAA	p.Q133*		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCGCTATATTGGAGTGGATTG	0.433			NA											9	35					0	0	0.006214	0	0
MICAL2	9645	broad.mit.edu	37	11	12183922	12183922	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:12183922T>C	uc001mjz.2	+	3	508	c.220T>C	c.(220-222)TCC>CCC	p.S74P	MICAL2_uc010rch.1_Missense_Mutation_p.S74P|MICAL2_uc001mjy.2_Missense_Mutation_p.S74P|MICAL2_uc001mka.2_Missense_Mutation_p.S74P|MICAL2_uc010rci.1_Missense_Mutation_p.S74P|MICAL2_uc001mkb.2_Missense_Mutation_p.S74P|MICAL2_uc001mkc.2_Missense_Mutation_p.S74P	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	74						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TAAGCGTGGTTCCCACAAAGA	0.507			NA											11	28					0	0	0.008291	0	0
FAR1	84188	broad.mit.edu	37	11	13722001	13722001	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:13722001C>T	uc001mld.2	+	3	482	c.327C>T	c.(325-327)TTC>TTT	p.F109F	FAR1_uc009ygp.2_Silent_p.F109F	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	109					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						ATATTATATTCCACTGTGCAG	0.303			NA											6	67					0	0	0.00308	0	0
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:15260573G>T	uc001mly.2	+	11	1533	c.1487G>T	c.(1486-1488)CGT>CTT	p.R496L	INSC_uc001mlz.2_Missense_Mutation_p.R449L|INSC_uc001mma.2_Missense_Mutation_p.R449L|INSC_uc010rcs.1_Missense_Mutation_p.R484L|INSC_uc001mmb.2_Missense_Mutation_p.R449L|INSC_uc001mmc.2_Missense_Mutation_p.R407L	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	496					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						ACCCTGGCTCGTCTCAGCCGA	0.607			NA											7	32					0.000157383	0.000168871	0.00308	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077389	19077389	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:19077389A>T	uc001mph.2	-	2	649	c.561T>A	c.(559-561)ACT>ACA	p.T187T		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	187	Helical; Name=5; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GCCACGCTGCAGTGATGAAAT	0.527	GBM(198;1966 2199 4849 37227 49954)		NA											25	34					0	0	0.00333	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137465	40137465	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:40137465G>T	uc001mxa.1	-	2	2342	c.378C>A	c.(376-378)CTC>CTA	p.L126L	LRRC4C_uc001mxc.1_Silent_p.L122L|LRRC4C_uc001mxd.1_Silent_p.L122L|LRRC4C_uc001mxb.1_Silent_p.L122L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	126	LRR 3.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGAGTGTTGAGGTTCGCCA	0.443			NA											23	33					7.41877e-09	9.20303e-09	0.012319	1	0
OR4C6	219432	broad.mit.edu	37	11	55433265	55433265	+	Missense_Mutation	SNP	T	T	C	rs146339011		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:55433265T>C	uc001nht.3	+	3	888	c.623T>C	c.(622-624)ATC>ACC	p.I208T	OR4C6_uc010rik.1_Missense_Mutation_p.I208T	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208M(1)		skin(2)	2						TGTGTGGCCATCTTTCTTATC	0.493			NA											44	77					0	0	0.011902	0	0
MS4A6A	64231	broad.mit.edu	37	11	59939710	59939710	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:59939710G>T	uc001nor.2	-	7	906	c.668C>A	c.(667-669)CCT>CAT	p.P223H	MS4A6A_uc001noq.2_3'UTR|MS4A6A_uc001nos.3_Missense_Mutation_p.P251H|MS4A6A_uc009ymv.2_Missense_Mutation_p.P223H	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	223	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GTAACTGTGAGGCAGGAAAAG	0.338			NA											54	100					2.48254e-18	4.03242e-18	0.00361	1	0
AHNAK	79026	broad.mit.edu	37	11	62285076	62285076	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:62285076C>A	uc001ntl.2	-	5	17113	c.16813G>T	c.(16813-16815)GCT>TCT	p.A5605S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5605	Gly-rich.				nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAGTTGAGAGCAGAGGAGACT	0.542			NA											37	177					6.97489e-18	1.11447e-17	0.004878	1	0
CCDC87	55231	broad.mit.edu	37	11	66360278	66360278	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:66360278C>T	uc001oiq.3	-	1	277	c.209G>A	c.(208-210)GGG>GAG	p.G70E	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	70										ovary(1)|skin(1)	2						CGCTGCTATCCCGCTGCCGGC	0.677			NA									OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	0.004672	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747617	68747617	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:68747617C>T	uc010rqf.1	-	1	839	c.839G>A	c.(838-840)GGC>GAC	p.G280D		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	280	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTCCGGCTGCCCACCAGGAA	0.667			NA											19	44					0	0	0.007413	0	0
INPPL1	3636	broad.mit.edu	37	11	71948755	71948755	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:71948755G>T	uc001osf.2	+	26	3614	c.3467G>T	c.(3466-3468)CGG>CTG	p.R1156L	INPPL1_uc001osg.2_Missense_Mutation_p.R914L	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CAGCCCCCCCGGGGACTGCCC	0.697			NA											10	20					6.42651e-13	9.21656e-13	0.010729	1	0
C11orf82	220042	broad.mit.edu	37	11	82645284	82645284	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:82645284T>G	uc001ozt.2	+	6	3148	c.2904T>G	c.(2902-2904)TGT>TGG	p.C968W	C11orf82_uc010rsr.1_Missense_Mutation_p.C667W|C11orf82_uc010rss.1_Missense_Mutation_p.C667W|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	968					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						CTGATTCTTGTTCAGAAGTCA	0.403			NA											25	65					0	0	0.003954	0	0
CCDC81	60494	broad.mit.edu	37	11	86130969	86130969	+	Splice_Site	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:86130969G>T	uc001pbx.1	+	14	2120	c.1692_splice	c.e14-1	p.E564_splice	CCDC81_uc001pbw.1_Splice_Site_p.E474_splice|CCDC81_uc010rtq.1_Splice_Site_p.E347_splice|CCDC81_uc001pby.1_Splice_Site_p.E299_splice	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1											skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TTTCTCTCCAGGCACTTGGCA	0.473			NA											10	41					1.58986e-06	1.81875e-06	0.008291	1	0
NOX4	50507	broad.mit.edu	37	11	89070683	89070683	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:89070683A>T	uc001pct.2	-	16	1686	c.1447T>A	c.(1447-1449)TTT>ATT	p.F483I	NOX4_uc009yvr.2_Missense_Mutation_p.F458I|NOX4_uc001pcu.2_Missense_Mutation_p.F409I|NOX4_uc001pcw.2_Missense_Mutation_p.F176I|NOX4_uc001pcx.2_Missense_Mutation_p.F136I|NOX4_uc001pcv.2_Missense_Mutation_p.F443I|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.F296I|NOX4_uc009yvp.2_Missense_Mutation_p.F247I|NOX4_uc010rtv.1_Missense_Mutation_p.F419I|NOX4_uc009yvq.2_Missense_Mutation_p.F459I	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	483	Cytoplasmic (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TCTTGCCAAAACTGAGAGGAC	0.363			NA											11	32					0	0	0.00499	0	0
BCL9L	283149	broad.mit.edu	37	11	118773311	118773311	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:118773311C>A	uc001pug.2	-	6	2106	c.1141G>T	c.(1141-1143)GGG>TGG	p.G381W	BCL9L_uc009zal.2_Missense_Mutation_p.G376W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	381	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGCCTCCCCCAGCAGGGCA	0.692			NA											15	40					6.94344e-10	9.15414e-10	0.006122	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789936	133789936	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:133789936G>T	uc001qgx.3	-	18	3915	c.3684C>A	c.(3682-3684)CTC>CTA	p.L1228L		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1228	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCTGCTGCAGGAGGCCCGGGC	0.687			NA											19	41					3.01185e-09	3.84993e-09	0.003954	1	0
ADIPOR2	79602	broad.mit.edu	37	12	1863667	1863667	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:1863667C>G	uc001qjm.2	+	2	355	c.158C>G	c.(157-159)TCC>TGC	p.S53C	ADIPOR2_uc001qjn.2_Missense_Mutation_p.S53C	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	53	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTCTATCTTCCCATCATAAA	0.433			NA											12	39					0	0	0.001368	0	0
LRTM2	654429	broad.mit.edu	37	12	1940197	1940197	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:1940197G>T	uc001qjt.2	+	4	970	c.164G>T	c.(163-165)AGT>ATT	p.S55I	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S55I|LRTM2_uc010sdx.1_Missense_Mutation_p.S55I|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	55	LRRNT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTGGACTGCAGTGGCCTTGGC	0.632			NA											19	67					3.62473e-10	4.84396e-10	0.012319	1	0
CLEC4D	338339	broad.mit.edu	37	12	8673750	8673750	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:8673750T>A	uc001qun.2	+	6	724	c.531T>A	c.(529-531)TCT>TCA	p.S177S		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	177	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					CCGACAACTCTCAGGGAGAAA	0.343			NA											14	46					0	0	0.003163	0	0
A2ML1	144568	broad.mit.edu	37	12	9001432	9001432	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:9001432C>A	uc001quz.3	+	16	2048	c.1950C>A	c.(1948-1950)CCC>CCA	p.P650P	A2ML1_uc001qva.1_Silent_p.P230P|A2ML1_uc010sgm.1_Silent_p.P150P	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	494						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ACCCAATGCCCCAAGGGCATT	0.527			NA											70	147					4.79706e-38	8.65237e-38	0.00361	1	0
PRB4	5545	broad.mit.edu	37	12	11461220	11461220	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:11461220C>A	uc001qzf.1	-	3	731	c.697G>T	c.(697-699)GGG>TGG	p.G233W	PRB4_uc001qzt.2_Missense_Mutation_p.G233W	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	296						extracellular region				ovary(1)	1						GGCCTGCCCCCTTGAGGAGGT	0.582			NA								HNSCC(22;0.051)			60	142					3.00467e-41	5.45292e-41	0.00361	1	0
PTPRO	5800	broad.mit.edu	37	12	15637142	15637142	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:15637142G>C	uc001rcv.1	+	2	484	c.310G>C	c.(310-312)GTG>CTG	p.V104L	PTPRO_uc001rcw.1_Missense_Mutation_p.V104L|PTPRO_uc001rcu.1_Missense_Mutation_p.V104L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	104	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AAATGGAAATGTGGTGACCAA	0.398			NA											13	38					0	0	0.00245	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|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.G12G(6)|p.G12N(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)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	7					6.40141e-05	6.97043e-05	0.010729	1	0
FAIM2	23017	broad.mit.edu	37	12	50290860	50290860	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:50290860C>A	uc001rvj.1	-	5	533	c.388G>T	c.(388-390)GTC>TTC	p.V130F	FAIM2_uc001rvi.1_Missense_Mutation_p.V84F|FAIM2_uc001rvk.1_RNA	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	130					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)|skin(1)	3						TAGTCCTTGACAGGGTCACTG	0.532			NA											24	60					9.57634e-11	1.30345e-10	0.00333	1	0
SCN8A	6334	broad.mit.edu	37	12	52164461	52164461	+	Silent	SNP	C	C	A	rs113227803		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52164461C>A	uc001ryw.2	+	19	3817	c.3639C>A	c.(3637-3639)GGC>GGA	p.G1213G	SCN8A_uc010snl.1_Silent_p.G1078G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1213	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGAGCAGTGGCGCCCTGGTGA	0.562			NA											24	26					2.41591e-17	3.83934e-17	0.004656	1	0
SCN8A	6334	broad.mit.edu	37	12	52180593	52180593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52180593C>A	uc001ryw.2	+	22	4388	c.4210C>A	c.(4210-4212)CTG>ATG	p.L1404M	SCN8A_uc010snl.1_Missense_Mutation_p.L1228M|SCN8A_uc001rza.1_RNA	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1404	III.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGCAGGATACCTGGCCCTTCT	0.398			NA											5	21					0.00116845	0.00121817	0.001168	1	0
KRT72	140807	broad.mit.edu	37	12	52984735	52984735	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52984735A>C	uc001sar.2	-	6	1060	c.974T>G	c.(973-975)CTG>CGG	p.L325R	KRT72_uc001saq.2_Missense_Mutation_p.L325R|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Missense_Mutation_p.L137R	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	325	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTGACCTGCAGCTCCTGGAT	0.547			NA											17	46					0	0	0.00499	0	0
HOXC11	3227	broad.mit.edu	37	12	54367460	54367460	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:54367460C>A	uc001sem.2	+	1	551	c.435C>A	c.(433-435)AGC>AGA	p.S145R		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	145					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACAAGAACAGCGTCCTGCCTC	0.667			NA	T	NUP98	AML								50	126					6.14515e-18	9.87253e-18	0.00361	1	0
PTPRB	5787	broad.mit.edu	37	12	70988333	70988333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:70988333C>A	uc001swb.3	-	4	806	c.776G>T	c.(775-777)GGG>GTG	p.G259V	PTPRB_uc010sto.1_Missense_Mutation_p.G259V|PTPRB_uc010stp.1_Missense_Mutation_p.G259V|PTPRB_uc001swc.3_Missense_Mutation_p.G477V|PTPRB_uc001swa.3_Missense_Mutation_p.G477V|PTPRB_uc001swd.3_Missense_Mutation_p.G476V|PTPRB_uc009zrr.1_Missense_Mutation_p.G356V|PTPRB_uc001swe.2_Missense_Mutation_p.G477V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	259	Fibronectin type-III 3.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGGGTCAGCCCGTGAAAAGC	0.502			NA											32	59					1.74807e-11	2.40155e-11	0.010818	1	0
FGD6	55785	broad.mit.edu	37	12	95603227	95603227	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:95603227C>A	uc001tdp.3	-	2	2057	c.1833G>T	c.(1831-1833)GTG>GTT	p.V611V	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	611					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						TGCACTTTTCCACATCCATAG	0.418			NA											62	148					5.98616e-33	1.06662e-32	0.00361	1	0
SCYL2	55681	broad.mit.edu	37	12	100729587	100729587	+	Splice_Site	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:100729587A>G	uc001thn.2	+	16	1980	c.1930_splice	c.e16-2	p.Q644_splice	SCYL2_uc001thm.1_Splice_Site_p.Q644_splice	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein						endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						TTTCTATTTCAGCAAATTGAC	0.328			NA											31	65					0	0	0.012213	0	0
BTBD11	121551	broad.mit.edu	37	12	108011167	108011167	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:108011167C>G	uc001tmk.1	+	9	2706	c.2185C>G	c.(2185-2187)CAG>GAG	p.Q729E	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.Q729E|BTBD11_uc001tml.1_Missense_Mutation_p.Q266E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	729						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TACAACCCCCCAGGGTGATAT	0.493			NA											24	70					0	0	0.002299	0	0
FAM109A	144717	broad.mit.edu	37	12	111801043	111801043	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:111801043C>A	uc001tsd.3	-	3	580	c.189G>T	c.(187-189)CTG>CTT	p.L63L	FAM109A_uc009zvu.2_Missense_Mutation_p.W44L|FAM109A_uc001tsc.2_Silent_p.L86L	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	63	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						TGCAGCCCTCCAGGATGATGA	0.692			NA											6	20					8.12818e-05	8.78561e-05	0.001984	1	0
DNAH10	196385	broad.mit.edu	37	12	124395175	124395175	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:124395175G>T	uc001uft.3	+	58	9761	c.9736G>T	c.(9736-9738)GGC>TGC	p.G3246C		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3246	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCTGTAATGGGCTACTGTGA	0.473			NA											20	45					1.78486e-19	2.98153e-19	0.007413	1	0
POLE	5426	broad.mit.edu	37	12	133209344	133209344	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:133209344C>A	uc001uks.1	-	44	6086	c.6042G>T	c.(6040-6042)GGG>GGT	p.G2014G	POLE_uc001ukq.1_Silent_p.G224G|POLE_uc001ukr.1_Silent_p.G818G|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	2014					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCGCCTCAGCCCGTCCTTCA	0.672			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					19	33					1.33834e-09	1.73335e-09	0.007413	1	0
POLE	5426	broad.mit.edu	37	12	133256567	133256567	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:133256567C>A	uc001uks.1	-	5	440	c.396G>T	c.(394-396)GAG>GAT	p.E132D	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E105D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	132					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGGGACAGTCTCCACTTTTG	0.468			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					21	50					5.35356e-11	7.32068e-11	0.00278	1	0
RXFP2	122042	broad.mit.edu	37	13	32352717	32352717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:32352717G>A	uc001utt.2	+	9	853	c.782G>A	c.(781-783)TGG>TAG	p.W261*	RXFP2_uc010aba.2_Nonsense_Mutation_p.W244*	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	261	Extracellular (Potential).|LRR 6.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAACTCAACTGGGTGTGAGTA	0.328			NA											29	100					0	0	0.010818	0	0
LHFP	10186	broad.mit.edu	37	13	39952639	39952639	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:39952639G>A	uc001uxf.2	-	3	921	c.410C>T	c.(409-411)GCC>GTC	p.A137V		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	137	Helical; (Potential).					integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GGGGTAGAGGGCACAGCCAGC	0.507			NA	T	HMGA2	lipoma								16	38					0	0	0.004007	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076859	49076859	+	Splice_Site	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:49076859C>A	uc001vch.2	-	11	1488	c.1117_splice	c.e11+1	p.E373_splice	RCBTB2_uc010tgg.1_Splice_Site_p.E378_splice|RCBTB2_uc001vci.2_Splice_Site_p.E349_splice|RCBTB2_uc010tgh.1_Splice_Site_p.E99_splice|RCBTB2_uc001vcj.2_Splice_Site_p.E325_splice|RCBTB2_uc010acv.1_Splice_Site	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB								Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACCAGCTTACCCACGGAGAG	0.547			NA											16	63					1.55795e-14	2.33692e-14	0.012319	1	0
IPO5	3843	broad.mit.edu	37	13	98641395	98641395	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:98641395G>A	uc001vnf.1	+	4	509	c.444G>A	c.(442-444)CGG>CGA	p.R148R	IPO5_uc001vne.2_Silent_p.R166R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.R88R	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	148					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TGGGACTGCGGGAAGCTGCCC	0.378			NA											17	27					0	0	0.004007	0	0
PRMT5	10419	broad.mit.edu	37	14	23393546	23393546	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:23393546C>G	uc001whm.1	-	11	1223	c.1132G>C	c.(1132-1134)GCA>CCA	p.A378P	PRMT5_uc001whl.1_Missense_Mutation_p.A361P|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.A272P|PRMT5_uc010tng.1_Missense_Mutation_p.A317P|PRMT5_uc010tnh.1_Missense_Mutation_p.A334P|PRMT5_uc001whn.1_Missense_Mutation_p.A207P	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	378					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTTGGCTGCCCGCAGGGAA	0.552			NA											30	63					0	0	0.009535	0	0
FOXG1	2290	broad.mit.edu	37	14	29237287	29237287	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:29237287G>C	uc001wqe.2	+	1	1001	c.802G>C	c.(802-804)GGC>CGC	p.G268R		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	268	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTCATCGGCGGCACCACGGG	0.677			NA											15	33					0	0	0.004007	0	0
COCH	1690	broad.mit.edu	37	14	31346907	31346907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:31346907C>A	uc001wqr.2	+	4	292	c.212C>A	c.(211-213)TCG>TAG	p.S71*	COCH_uc001wqp.2_Nonsense_Mutation_p.S71*|COCH_uc001wqq.3_Nonsense_Mutation_p.S71*|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	71	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GCTTCTGTATCGAGCATATGT	0.502			NA											12	34					1.49906e-05	1.66941e-05	0.00245	1	0
RTN1	6252	broad.mit.edu	37	14	60194214	60194214	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:60194214G>A	uc001xen.1	-	3	1397	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	396					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCAGGGGGCTGGGGATGGTTG	0.692			NA											8	10					0	0	0.00308	0	0
SYNE2	23224	broad.mit.edu	37	14	64678779	64678779	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:64678779C>T	uc001xgm.2	+	104	19054	c.18824C>T	c.(18823-18825)TCA>TTA	p.S6275L	SYNE2_uc001xgl.2_Missense_Mutation_p.S6275L|SYNE2_uc010apy.2_Missense_Mutation_p.S2660L|SYNE2_uc001xgn.2_Missense_Mutation_p.S1237L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S245L|SYNE2_uc001xgq.2_Missense_Mutation_p.S640L|SYNE2_uc001xgr.2_Missense_Mutation_p.S58L|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6275	Spectrin 8.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCACTTCTCAGAGAGTGAC	0.547			NA											18	106					0	0	0.006122	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75388072	75388072	+	Missense_Mutation	SNP	C	C	A	rs146920707	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:75388072C>A	uc010tux.1	-	2	701	c.173G>T	c.(172-174)CGG>CTG	p.R58L	RPS6KL1_uc001xqw.2_Missense_Mutation_p.R58L|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R58L	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	58						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CAGGGCCAGCCGGATCTGCGT	0.587			NA											20	79					1.01871e-10	1.38019e-10	0.008871	1	0
FLRT2	23768	broad.mit.edu	37	14	86089443	86089443	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:86089443C>A	uc001xvr.2	+	2	2352	c.1585C>A	c.(1585-1587)CAT>AAT	p.H529N	FLRT2_uc010atd.2_Missense_Mutation_p.H529N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	529	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCGTCCAGCCATGAGCAGAC	0.577			NA											37	107					3.33393e-15	5.05246e-15	0.004878	1	0
MKRN3	7681	broad.mit.edu	37	15	23811970	23811970	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:23811970G>T	uc001ywh.3	+	1	1517	c.1041G>T	c.(1039-1041)TGG>TGT	p.W347C	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.W347C	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	347	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.W347C(1)		lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCGCAGGTGGAGAAGTGCCA	0.517			NA											31	77					4.02929e-09	5.12818e-09	0.010818	1	0
RYR3	6263	broad.mit.edu	37	15	33925217	33925217	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:33925217C>A	uc001zhi.2	+	24	3005	c.2935C>A	c.(2935-2937)CAA>AAA	p.Q979K	RYR3_uc010bar.2_Missense_Mutation_p.Q979K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	979	2.|4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTACCTCCTCAAGAAATTTT	0.378			NA											23	70					3.83957e-06	4.34167e-06	0.00278	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42438093	42438093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:42438093C>T	uc001zoz.2	-	15	1606	c.1543G>A	c.(1543-1545)GAG>AAG	p.E515K	PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.E147K|PLA2G4F_uc010bcr.2_Missense_Mutation_p.E266K|PLA2G4F_uc001zpa.2_Missense_Mutation_p.E266K|PLA2G4F_uc010bcs.2_Missense_Mutation_p.E302K	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	515	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCGTGAACTCGCACCACTCT	0.572			NA											26	72					0	0	0.005443	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058158	48058158	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:48058158T>A	uc010bek.2	+	14	1880	c.1520T>A	c.(1519-1521)ATT>AAT	p.I507N	SEMA6D_uc001zvw.2_Missense_Mutation_p.I507N|SEMA6D_uc001zvy.2_Missense_Mutation_p.I507N|SEMA6D_uc001zvz.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwa.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwb.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwc.2_Missense_Mutation_p.I507N	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	507	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTAGCTGCATTATCCGCATC	0.438			NA											36	102					0	0	0.004289	0	0
UNC13C	440279	broad.mit.edu	37	15	54527297	54527297	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:54527297C>T	uc002ack.2	+	4	3141	c.3141C>T	c.(3139-3141)GTC>GTT	p.V1047V		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1047					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCCTATTGTCCGAGATGTGG	0.383			NA											6	32					0	0	0.00308	0	0
UNC13C	440279	broad.mit.edu	37	15	54919169	54919169	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:54919169G>T	uc002ack.2	+	31	6503	c.6503G>T	c.(6502-6504)TGG>TTG	p.W2168L	UNC13C_uc002acm.2_Missense_Mutation_p.W89L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2168					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATGGGGCATGGTATCCTCTT	0.403			NA											18	51					3.99206e-14	5.9276e-14	0.007413	1	0
PDCD7	10081	broad.mit.edu	37	15	65411761	65411761	+	Missense_Mutation	SNP	C	C	A	rs145137866	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:65411761C>A	uc002aol.2	-	4	1342	c.1287G>T	c.(1285-1287)CAG>CAT	p.Q429H		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	429					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0						GGAGATAATACTGTCGGAAAG	0.488			NA											9	25					3.09899e-07	3.64441e-07	0.004482	1	0
NOD2	64127	broad.mit.edu	37	16	50744743	50744743	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:50744743G>T	uc002egm.1	+	4	1026	c.921G>T	c.(919-921)ACG>ACT	p.T307T	NOD2_uc010cbk.1_Silent_p.T280T|NOD2_uc002egl.1_Silent_p.T85T|NOD2_uc010cbl.1_Silent_p.T85T|NOD2_uc010cbm.1_Silent_p.T85T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	307	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GCAAGAGCACGCTCCTGCAGC	0.627			NA											15	29					3.27435e-08	3.97793e-08	0.00245	1	0
ESRP2	80004	broad.mit.edu	37	16	68264348	68264348	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:68264348C>G	uc010cfa.1	-	14	2226	c.2038G>C	c.(2038-2040)GGT>CGT	p.G680R	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.G670R	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	680					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						TATGGGACACCCTGCATGCGG	0.632			NA											25	67					0	0	0.00333	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050184	84050184	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:84050184G>T	uc002fhg.1	-	8	1102	c.1102C>A	c.(1102-1104)CTC>ATC	p.L368I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	368	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0						ATCTCGCTGAGGTCAGGCATA	0.612			NA											17	51					2.48551e-13	3.58205e-13	0.00499	1	0
MTHFSD	64779	broad.mit.edu	37	16	86575712	86575712	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:86575712A>T	uc002fjn.2	-	6	601	c.550T>A	c.(550-552)TGC>AGC	p.C184S	MTHFSD_uc010voo.1_Missense_Mutation_p.C164S|MTHFSD_uc002fjo.2_Missense_Mutation_p.C21S|MTHFSD_uc002fjm.2_Missense_Mutation_p.C183S|MTHFSD_uc010vop.1_Missense_Mutation_p.C21S|MTHFSD_uc010voq.1_Missense_Mutation_p.C183S|MTHFSD_uc010vor.1_Missense_Mutation_p.C184S|MTHFSD_uc002fjp.2_Missense_Mutation_p.C164S	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	184					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						AGCACCTGGCAGTCGTGGACG	0.577			NA											15	48					0	0	0.004007	0	0
TRPV3	162514	broad.mit.edu	37	17	3432144	3432144	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:3432144G>C	uc002fvt.1	-	10	1710	c.1388C>G	c.(1387-1389)CCC>CGC	p.P463R	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P447R|TRPV3_uc010vri.1_Missense_Mutation_p.P418R|TRPV3_uc010vrj.1_Missense_Mutation_p.P447R|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P447R|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P463R|TRPV3_uc002fvu.2_Missense_Mutation_p.P463R|TRPV3_uc010vrn.1_Missense_Mutation_p.P45R	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	463	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CTCCTCCCGGGGGCGGTAGTA	0.393			NA											20	44					0	0	0.002299	0	0
ZNF232	7775	broad.mit.edu	37	17	5009405	5009405	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:5009405T>C	uc002gas.2	-	5	1722	c.968A>G	c.(967-969)CAG>CGG	p.Q323R	ZNF232_uc002gar.1_Missense_Mutation_p.Q341R|ZNF232_uc002gat.2_Missense_Mutation_p.Q350R	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	323	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						ATGAATTCTCTGATGCTGACC	0.453			NA											39	102					0	0	0.006999	0	0
USP6	9098	broad.mit.edu	37	17	5064886	5064886	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:5064886C>T	uc002gau.1	+	32	5122	c.2892C>T	c.(2890-2892)TCC>TCT	p.S964S	USP6_uc002gav.1_Silent_p.S964S|USP6_uc010ckz.1_Silent_p.S647S	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	964					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						ATGGGAACTCCTGTGCTTGGT	0.363			NA	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								15	49					0	0	0.00499	0	0
EFCAB5	374786	broad.mit.edu	37	17	28410034	28410034	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:28410034G>A	uc002het.2	+	18	3744	c.3552G>A	c.(3550-3552)ACG>ACA	p.T1184T	EFCAB5_uc010cse.2_Silent_p.T939T|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1184							calcium ion binding			ovary(1)|skin(1)	2						CCATCACTACGTACTTTGTAG	0.488			NA											14	26					0	0	0.001855	0	0
GPR179	440435	broad.mit.edu	37	17	36485944	36485944	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:36485944G>T	uc002hpz.2	-	11	3529	c.3508C>A	c.(3508-3510)CGG>AGG	p.R1170R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1170	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCCTCCCGTTGACAGACT	0.577			NA											55	162					2.84144e-21	4.88528e-21	0.00361	1	0
RAPGEFL1	51195	broad.mit.edu	37	17	38347009	38347009	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:38347009C>T	uc010cwu.1	+	8	1202	c.712C>T	c.(712-714)CAT>TAT	p.H238Y	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.H174Y	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	444	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCGATGTGTGCATGAGGTGGG	0.552	Esophageal Squamous(28;274 750 6870 14218 42203)		NA											29	119					0	0	0.010818	0	0
ITGB3	3690	broad.mit.edu	37	17	45361973	45361973	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:45361973C>A	uc002ilj.2	+	4	546	c.526C>A	c.(526-528)CGG>AGG	p.R176R	ITGB3_uc002ili.1_Silent_p.R176R|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	176	VWFA.|Extracellular (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CAGTAACCTGCGGATTGGCTT	0.537			NA											44	98					5.44703e-19	8.94651e-19	0.009718	1	0
TBKBP1	9755	broad.mit.edu	37	17	45773563	45773563	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:45773563G>T	uc002ilu.2	+	1	934	c.85G>T	c.(85-87)GAC>TAC	p.D29Y		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	29					innate immune response						0						CAGTCCCGGAGACCCCTCGCT	0.647			NA											30	36					3.99451e-17	6.3139e-17	0.009535	1	0
POLG2	11232	broad.mit.edu	37	17	62479064	62479064	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:62479064C>T	uc002jei.2	-	6	1246	c.1163G>A	c.(1162-1164)GGA>GAA	p.G388E		NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	388					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GGGGCCTCTTCCTACATCCAA	0.328	Colon(3;18 21 435 17652 48887)		NA											22	48					0	0	0.005443	0	0
ENPP7	339221	broad.mit.edu	37	17	77709293	77709293	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:77709293G>T	uc002jxa.2	+	3	871	c.851G>T	c.(850-852)GGG>GTG	p.G284V		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	284					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACCAAACGGGATGCTGCTC	0.582			NA											17	53					3.41278e-10	4.58154e-10	0.00499	1	0
CDH7	1005	broad.mit.edu	37	18	63430170	63430170	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr18:63430170G>T	uc002ljz.2	+	2	417	c.92G>T	c.(91-93)AGG>ATG	p.R31M	CDH7_uc002lka.2_Missense_Mutation_p.R31M|CDH7_uc002lkb.2_Missense_Mutation_p.R31M	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	31	Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GAACTCTCAAGGTCCAGATCA	0.468			NA											15	30					8.60227e-14	1.26453e-13	0.004007	1	0
CDH19	28513	broad.mit.edu	37	18	64211401	64211401	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr18:64211401C>A	uc002lkc.1	-	7	1159	c.1021G>T	c.(1021-1023)GTT>TTT	p.V341F	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.V341F|CDH19_uc002lkd.2_Missense_Mutation_p.V341F	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	341	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TGCTCAGGAACATGATGGTTT	0.418			NA											8	39					0.00307968	0.00315479	0.00308	1	0
STK11	6794	broad.mit.edu	37	19	1207079	1207079	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:1207079G>T	uc002lrl.1	+	1	1282	c.167G>T	c.(166-168)GGG>GTG	p.G56V		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	56	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.G56V(1)|p.G56W(1)|p.G56fs*107(1)|p.G56fs*4(1)|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)		GACCTGCTGGGGGAAGGCTCT	0.612			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			8	13					7.48243e-07	8.695e-07	0.006214	1	0
STK11	6794	broad.mit.edu	37	19	1207144	1207144	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:1207144A>G	uc002lrl.1	+	1	1347	c.232A>G	c.(232-234)AAG>GAG	p.K78E		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	78	Protein kinase.	ATP (Probable).		K->M: Loss of kinase activity, leading to reduced autophosphorylation and acting as a dominant-negative mutant.	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)|p.K78E(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)		GAGGGCCGTCAAGATCCTCAA	0.617			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			6	8					0	0	0.001984	0	0
KEAP1	9817	broad.mit.edu	37	19	10602739	10602739	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:10602739A>T	uc002moq.1	-	3	995	c.839T>A	c.(838-840)TTC>TAC	p.F280Y	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.F280Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	280	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATCTGCAGGAAGTTCGGCGT	0.617			NA											31	41					0	0	0.003271	0	0
ZNF98	148198	broad.mit.edu	37	19	22605004	22605005	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:22605004_22605005AG>TT	uc002nqt.2	-	1	144_145	c.22_23CT>AA	c.(22-24)CTA>AAA	p.L8K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACCATTTCTAGGCTTCCAAGG	0.614			NA											43	76					0	0	0.004672	0	0
AXL	558	broad.mit.edu	37	19	41765541	41765541	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:41765541C>A	uc010ehj.2	+	20	2607	c.2417C>A	c.(2416-2418)ACA>AAA	p.T806K	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.T797K	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	806	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TTGGAGAACACACTGAAGGCC	0.552			NA											20	59					3.51602e-12	4.92242e-12	0.008871	1	0
PSG6	5675	broad.mit.edu	37	19	43414784	43414784	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:43414784T>A	uc002ovj.1	-	3	706	c.654A>T	c.(652-654)ATA>ATT	p.I218I	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.I225I|PSG6_uc002ovi.2_Silent_p.I219I|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Silent_p.I218I|PSG6_uc002ovg.1_Silent_p.I218I	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	218	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				CTGGGTTCCGTATTTCACATT	0.502			NA											127	267					0	0	0.00361	0	0
CPT1C	126129	broad.mit.edu	37	19	50212025	50212025	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:50212025G>T	uc002ppj.2	+	13	1700	c.1495G>T	c.(1495-1497)GGC>TGC	p.G499C	CPT1C_uc002ppl.3_Missense_Mutation_p.G465C|CPT1C_uc002ppi.2_Missense_Mutation_p.G416C|CPT1C_uc002ppk.2_Missense_Mutation_p.G488C|CPT1C_uc010eng.2_Missense_Mutation_p.G499C|CPT1C_uc010enh.2_Missense_Mutation_p.G499C|CPT1C_uc010ybc.1_Missense_Mutation_p.G370C|CPT1C_uc010eni.1_Missense_Mutation_p.G156C	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	499	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCAACAGACGGCCACTGCAA	0.612			NA											21	85					7.45023e-12	1.03319e-11	0.010504	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51920651	51920652	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51920651_51920652AC>TT	uc002pwo.2	-	2	721_722	c.105_106GT>AA	c.(103-108)CTGTGC>CTAAGC	p.C36S	SIGLEC10_uc002pwp.2_Missense_Mutation_p.C36S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.C36S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.C36S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.C36S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.C36S|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.C20S	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	36	Extracellular (Potential).|Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACAGAGATGCACAGGCCCTCCG	0.579			NA											11	68					0	0	0.004672	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961268	51961268	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51961268C>T	uc002pwt.2	-	1	441	c.374G>A	c.(373-375)CGG>CAG	p.R125Q	SIGLEC8_uc010yda.1_Missense_Mutation_p.R125Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.R125Q	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	125	Extracellular (Potential).	Sialic acid (By similarity).			cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCTCTAGCCGAAAGAAATA	0.498			NA											62	112					0	0	0.00361	0	0
ZNF578	147660	broad.mit.edu	37	19	53014459	53014459	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:53014459A>T	uc002pzp.3	+	6	1069	c.825A>T	c.(823-825)GCA>GCT	p.A275A		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	50	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GATACCTTGCACGCCATCGTA	0.378			NA											37	97					0	0	0.003755	0	0
ZNF525	170958	broad.mit.edu	37	19	53879144	53879144	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:53879144C>T	uc010eqn.2	+	3	222	c.29C>T	c.(28-30)TCC>TTC	p.S10F	ZNF525_uc002qbl.2_RNA|ZNF765_uc010ydx.1_5'UTR	NR_003699				Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.												0						AACCTGGTCTCCCTGGGTGAG	0.398			NA											11	145					0	0	0.001368	0	0
NLRP2	55655	broad.mit.edu	37	19	55495055	55495055	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:55495055G>A	uc002qij.2	+	6	2075	c.1989G>A	c.(1987-1989)CCG>CCA	p.P663P	NLRP2_uc010yfp.1_Silent_p.P640P|NLRP2_uc010esn.2_Silent_p.P639P|NLRP2_uc010eso.2_Silent_p.P660P|NLRP2_uc010esp.2_Silent_p.P641P	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAATCTCCCGGAGAATGTCA	0.488			NA											15	50					0	0	0.006122	0	0
NLRP5	126206	broad.mit.edu	37	19	56539267	56539267	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:56539267C>A	uc002qmj.2	+	7	1668	c.1668C>A	c.(1666-1668)CTC>CTA	p.L556L	NLRP5_uc002qmi.2_Silent_p.L537L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	556	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCAAGGACTCGGGGAGTCTG	0.532			NA											9	26					0.000274275	0.000289021	0.004482	1	0
VN1R1	57191	broad.mit.edu	37	19	57967672	57967672	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:57967672C>A	uc002qos.1	-	1	183	c.183G>T	c.(181-183)CTG>CTT	p.L61L	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	61	Helical; Name=1; (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)		AGGAATTTCCCAGGATCCCAA	0.408			NA											25	43					4.59853e-10	6.1175e-10	0.005443	1	0
ZNF551	90233	broad.mit.edu	37	19	58199618	58199618	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:58199618A>G	uc002qpw.3	+	3	2150	c.1927A>G	c.(1927-1929)ATT>GTT	p.I643V	ZNF551_uc002qpv.3_Missense_Mutation_p.I586V|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	659	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCTAACCTCATTCGACATCG	0.428			NA											35	72					0	0	0.004289	0	0
COLEC11	78989	broad.mit.edu	37	2	3652050	3652050	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:3652050T>A	uc002qya.2	+	2	268	c.120T>A	c.(118-120)CCT>CCA	p.P40P	COLEC11_uc002qxz.2_Missense_Mutation_p.L11Q|COLEC11_uc002qyb.2_Silent_p.P40P|COLEC11_uc002qyc.2_Silent_p.P40P|COLEC11_uc010ewo.2_Silent_p.P40P|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	40						collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCCTCGTCCCTGGCCTCAAAG	0.627			NA											19	74					0	0	0.007413	0	0
ASB3	51130	broad.mit.edu	37	2	53897674	53897674	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:53897674T>C	uc002rxg.1	-	10	1658	c.1523A>G	c.(1522-1524)GAA>GGA	p.E508G	ASB3_uc002rxh.1_Missense_Mutation_p.E435G|ASB3_uc002rxi.3_Missense_Mutation_p.E546G|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	508					intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTGGAACTTCATACATCCT	0.383			NA											3	33					0	0	0.004672	0	0
DYSF	8291	broad.mit.edu	37	2	71791305	71791305	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:71791305G>A	uc002sie.2	+	24	2849	c.2473G>A	c.(2473-2475)GGC>AGC	p.G825S	DYSF_uc010feg.2_Missense_Mutation_p.G856S|DYSF_uc010feh.2_Missense_Mutation_p.G811S|DYSF_uc002sig.3_Missense_Mutation_p.G811S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G825S|DYSF_uc010fef.2_Missense_Mutation_p.G842S|DYSF_uc010fei.2_Missense_Mutation_p.G842S|DYSF_uc010fek.2_Missense_Mutation_p.G843S|DYSF_uc010fej.2_Missense_Mutation_p.G812S|DYSF_uc010fel.2_Missense_Mutation_p.G812S|DYSF_uc010feo.2_Missense_Mutation_p.G857S|DYSF_uc010fem.2_Missense_Mutation_p.G826S|DYSF_uc010fen.2_Missense_Mutation_p.G843S|DYSF_uc002sif.2_Missense_Mutation_p.G826S	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	825	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CAACTACTGTGGCAAGAATTG	0.512			NA											32	77					0	0	0.010818	0	0
REV1	51455	broad.mit.edu	37	2	100021119	100021119	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:100021119C>G	uc002tad.2	-	18	3045	c.2833G>C	c.(2833-2835)GCA>CCA	p.A945P	REV1_uc002tac.2_Missense_Mutation_p.A944P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	945					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						GGTGGAAGTGCTTCTAAAACA	0.438			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					22	49					0	0	0.00333	0	0
REV1	51455	broad.mit.edu	37	2	100021122	100021122	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:100021122C>T	uc002tad.2	-	18	3042	c.2830G>A	c.(2830-2832)GAA>AAA	p.E944K	REV1_uc002tac.2_Missense_Mutation_p.E943K	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	944					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						GGAAGTGCTTCTAAAACAGAC	0.438			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					22	50					0	0	0.00278	0	0
RGPD4	285190	broad.mit.edu	37	2	108475962	108475962	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:108475962A>C	uc010ywk.1	+	11	1668	c.1586A>C	c.(1585-1587)CAA>CCA	p.Q529P	RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	529					intracellular transport		binding			skin(2)	2						ACAGAAAGACAAAAATCTTGG	0.398			NA											79	264					0	0	0.00361	0	0
RANBP2	5903	broad.mit.edu	37	2	109384607	109384607	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:109384607A>T	uc002tem.3	+	20	7738	c.7612A>T	c.(7612-7614)AGT>TGT	p.S2538C		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2538					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATTCGGCAACAGTTCAGCCAC	0.373			NA											84	246					0	0	0.00361	0	0
ANAPC1	64682	broad.mit.edu	37	2	112540062	112540063	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:112540062_112540063CC>AA	uc002thi.2	-	43	5332_5333	c.5085_5086GG>TT	c.(5083-5088)GGGGTT>GGTTTT	p.V1696F		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1696					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						ACATATAAAACCCCATCCTTGG	0.421			NA											6	37					0	0	0.004672	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:114357557A>G	uc010yxx.1	-	3	709	c.382T>C	c.(382-384)TAG>CAG	p.*128Q						SubName: Full=DEAD/H box polypeptide 11 like 2;												0						GCCTACTTCTAGTGAAACTGG	0.567			NA											5	37					0	0	0.000602	0	0
LOC401010	401010	broad.mit.edu	37	2	132201350	132201350	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:132201350G>T	uc002tst.2	-	1	1118	c.652C>A	c.(652-654)CCG>ACG	p.P218T		NR_002826				SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);												0						GCCACACCCGGCTCCAAGGCC	0.577			NA											11	23					1.08611e-07	1.29803e-07	0.010729	1	0
LRP1B	53353	broad.mit.edu	37	2	141135766	141135766	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:141135766C>T	uc002tvj.1	-	68	11593	c.10621G>A	c.(10621-10623)GCA>ACA	p.A3541T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3541	Extracellular (Potential).|LDL-receptor class A 26.				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)		GAGCCATCTGCACAGTCAAAA	0.403	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			21	43					0	0	0.010504	0	0
LRP1B	53353	broad.mit.edu	37	2	141739834	141739834	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:141739834G>T	uc002tvj.1	-	18	3754	c.2782C>A	c.(2782-2784)CAG>AAG	p.Q928K	LRP1B_uc010fnl.1_Missense_Mutation_p.Q110K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	928	Extracellular (Potential).|LDL-receptor class A 5.				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)		TGGTCTACCTGGCATGTTCTG	0.408	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			11	41					6.40141e-05	6.97043e-05	0.010729	1	0
TNFAIP6	7130	broad.mit.edu	37	2	152220570	152220570	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:152220570C>A	uc002txk.2	+	2	284	c.208C>A	c.(208-210)CAG>AAG	p.Q70K		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	70	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		AACTTACAAGCAGCTAGAGGC	0.433			NA											9	27					0.00448238	0.00457576	0.004482	1	0
NEB	4703	broad.mit.edu	37	2	152507201	152507201	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:152507201A>T	uc010fnx.2	-	53	7305	c.7114T>A	c.(7114-7116)TGT>AGT	p.C2372S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2372	Nebulin 63.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACTCCTGACACTTCTTGGCC	0.448			NA											78	211					0	0	0.00361	0	0
BAZ2B	29994	broad.mit.edu	37	2	160189152	160189152	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:160189152G>A	uc002uao.2	-	34	6194	c.5842C>T	c.(5842-5844)CTT>TTT	p.L1948F	BAZ2B_uc002uap.2_Missense_Mutation_p.L1912F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1948	PHD-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCATCACAAAGAAGAAGCAGT	0.383			NA											16	55					0	0	0.006122	0	0
GCG	2641	broad.mit.edu	37	2	163002070	163002070	+	Silent	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:163002070C>G	uc002ucc.2	-	4	471	c.372G>C	c.(370-372)GTG>GTC	p.V124V		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	124					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)	CTCGGCCTTTCACCAGCCAAG	0.408			NA											5	154					0	0	0.000602	0	0
SSFA2	6744	broad.mit.edu	37	2	182780424	182780424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:182780424C>T	uc002uoi.2	+	11	2379	c.2057C>T	c.(2056-2058)TCT>TTT	p.S686F	SSFA2_uc002uoh.2_Missense_Mutation_p.S686F|SSFA2_uc002uoj.2_Missense_Mutation_p.S686F|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.S533F|SSFA2_uc002uol.2_Missense_Mutation_p.S533F|SSFA2_uc002uom.2_Missense_Mutation_p.S154F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	686						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGCCTCCCTCTTCCATGGAC	0.403			NA											18	38					0	0	0.00499	0	0
NCKAP1	10787	broad.mit.edu	37	2	183821252	183821252	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:183821252T>C	uc002upc.2	-	20	2493	c.2091A>G	c.(2089-2091)GTA>GTG	p.V697V	NCKAP1_uc002upb.2_Silent_p.V703V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	697					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATGTTCCCATACCACCATGT	0.328			NA											26	70					0	0	0.005443	0	0
AOX1	316	broad.mit.edu	37	2	201523986	201523986	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:201523986G>T	uc002uvx.2	+	28	3371	c.3270G>T	c.(3268-3270)GTG>GTT	p.V1090V	AOX1_uc010zhf.1_Silent_p.V646V|AOX1_uc010fsu.2_Silent_p.V456V	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1090					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAGGTTCTGTGGTGGCAGATC	0.502			NA											25	101					9.04412e-07	1.04684e-06	0.004656	1	0
IGFBP5	3488	broad.mit.edu	37	2	217541586	217541586	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:217541586C>T	uc002vgj.3	-	4	1481	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	236	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACGTTTGCGGCCACGGGA	0.627			NA											27	104					0	0	0.003271	0	0
INPP5D	3635	broad.mit.edu	37	2	234091102	234091102	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:234091102C>A	uc010zmo.1	+	18	2271	c.2118C>A	c.(2116-2118)GCC>GCA	p.A706A	INPP5D_uc010zmp.1_Silent_p.A705A	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	706					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTGTCTTTGCCACATTTGAGG	0.517	NSCLC(82;1215 1426 16163 20348 41018)		NA											20	66					1.28384e-07	1.52197e-07	0.012319	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622463	234622463	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:234622463A>T	uc002vuw.2	+	1	826	c.826A>T	c.(826-828)ATT>TTT	p.I276F	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.I276F	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	276					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CATGGTCTTCATTGGGGGCAT	0.488			NA											52	110					0	0	0.00361	0	0
MLPH	79083	broad.mit.edu	37	2	238419223	238419223	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:238419223G>T	uc002vwt.2	+	3	344	c.117G>T	c.(115-117)TTG>TTT	p.L39F	MLPH_uc002vws.2_Missense_Mutation_p.L39F|MLPH_uc010fyt.1_Missense_Mutation_p.L39F|MLPH_uc002vwu.2_Missense_Mutation_p.L39F|MLPH_uc002vwv.2_Missense_Mutation_p.L39F|MLPH_uc002vww.2_Missense_Mutation_p.L15F	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	39	RabBD.						metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CAAGGGCGTTGAAGGGCAAGA	0.433			NA											3	40					0.004672	0.00475283	0.004672	1	0
KLHL30	377007	broad.mit.edu	37	2	239049536	239049536	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:239049536C>G	uc002vxr.1	+	1	120	c.87C>G	c.(85-87)CAC>CAG	p.H29Q		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	47	BTB.										0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCCATGCCACCGCGGCCTCC	0.692			NA											26	51					0	0	0.00333	0	0
RIN2	54453	broad.mit.edu	37	20	19970827	19970827	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:19970827A>T	uc002wro.1	+	8	1976	c.1940A>T	c.(1939-1941)GAT>GTT	p.D647V	RIN2_uc010gcu.1_Missense_Mutation_p.D214V|RIN2_uc010gcv.1_Missense_Mutation_p.D441V	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	647	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						CCGACCCCTGATTTTGTGGAT	0.537			NA											5	8					0	0	0.000602	0	0
CRNKL1	51340	broad.mit.edu	37	20	20024248	20024248	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:20024248G>A	uc002wrs.2	-	8	1375	c.1343C>T	c.(1342-1344)GCC>GTC	p.A448V		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	448	HAT 7.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						GAGTTCTTGGGCATCTTGTTT	0.373			NA											33	73					0	0	0.010818	0	0
TGM2	7052	broad.mit.edu	37	20	36768012	36768012	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:36768012C>A	uc002xhr.2	-	9	1244	c.1144G>T	c.(1144-1146)GGC>TGC	p.G382C	TGM2_uc010zvx.1_Missense_Mutation_p.G301C|TGM2_uc010zvy.1_Missense_Mutation_p.G322C|TGM2_uc002xhs.1_Missense_Mutation_p.G358C|TGM2_uc002xht.2_Missense_Mutation_p.G382C	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	382					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CTCAGGTCGCCCTCCTTGATG	0.587			NA											9	29					2.17888e-05	2.41732e-05	0.006214	1	0
ZNFX1	57169	broad.mit.edu	37	20	47888276	47888276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:47888276C>A	uc002xui.2	-	3	320	c.73G>T	c.(73-75)GGA>TGA	p.G25*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	25							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTAACTCTCCATCCACAGGG	0.483			NA											16	37					6.94344e-10	9.15414e-10	0.006122	1	0
ZNF217	7764	broad.mit.edu	37	20	52198208	52198208	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:52198208G>T	uc002xwq.3	-	1	1429	c.1158C>A	c.(1156-1158)ACC>ACA	p.T386T	ZNF217_uc010gij.1_Silent_p.T378T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	386	C2H2-type 5.				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)			GCTGGTGGTAGGTTCTGAAAG	0.647			NA											17	46					4.14922e-12	5.78137e-12	0.004007	1	0
MYT1	4661	broad.mit.edu	37	20	62839248	62839248	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:62839248G>T	uc002yii.2	+	7	1063	c.699G>T	c.(697-699)CAG>CAT	p.Q233H	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Translation_Start_Site	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	233	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCGCTCCCAGGACCTGTGTC	0.537	GBM(59;481 1041 20555 21139 33705)		NA											7	35					0.00307968	0.00315479	0.00308	1	0
SAMSN1	64092	broad.mit.edu	37	21	15858294	15858294	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:15858294A>T	uc002yju.1	-	8	1143	c.1061T>A	c.(1060-1062)CTG>CAG	p.L354Q	SAMSN1_uc010gky.1_Missense_Mutation_p.L186Q|SAMSN1_uc002yjv.1_Missense_Mutation_p.L422Q	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	354					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTCAGACTCCAGATCCTCTTT	0.403			NA											37	83					0	0	0.010771	0	0
BACH1	571	broad.mit.edu	37	21	30699100	30699100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:30699100G>T	uc002ynj.2	+	3	1070	c.955G>T	c.(955-957)GGA>TGA	p.G319*	BACH1_uc002ynk.2_Nonsense_Mutation_p.G319*|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	319						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						AGACCCTCATGGACTTTATTC	0.398			NA											51	120					9.40368e-32	1.66547e-31	0.00361	1	0
CYTSA	23384	broad.mit.edu	37	22	24718430	24718430	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:24718430T>A	uc002zzw.2	+	5	1789	c.1482T>A	c.(1480-1482)CGT>CGA	p.R494R	CYTSA_uc002zzv.3_Silent_p.R494R|CYTSA_uc011ajq.1_Silent_p.R494R	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	494	Potential.				cell cycle|cell division						0						TAGAGCAACGTTACATGGACC	0.418			NA											34	89					0	0	0.004289	0	0
C22orf28	51493	broad.mit.edu	37	22	32802692	32802692	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:32802692C>A	uc003amm.2	-	4	428	c.297G>T	c.(295-297)ATG>ATT	p.M99I	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	99					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						CAAAGGCTGCCATGTTCCCAA	0.388			NA											46	113					2.37804e-12	3.36126e-12	0.00361	1	0
RANGAP1	5905	broad.mit.edu	37	22	41670684	41670684	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:41670684G>A	uc003azs.2	-	2	1630	c.160C>T	c.(160-162)CTG>TTG	p.L54L	RANGAP1_uc003azt.2_Silent_p.L54L|RANGAP1_uc003azu.2_Silent_p.L54L|RANGAP1_uc011aoz.1_Silent_p.L44L	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	54	LRR 1.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						TCCAGACGCAGAGCCTCCAAG	0.512			NA											7	100					0	0	0.00308	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:44083357C>T	uc003bdy.1	-	11	1351	c.1136G>A	c.(1135-1137)AGA>AAA	p.R379K	EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308			NA											6	27					0	0	0.001168	0	0
SCN5A	6331	broad.mit.edu	37	3	38628930	38628930	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:38628930G>T	uc003cio.2	-	15	2591	c.2397C>A	c.(2395-2397)TCC>TCA	p.S799S	SCN5A_uc003cin.2_Silent_p.S799S|SCN5A_uc003cil.3_Silent_p.S799S|SCN5A_uc010hhi.2_Silent_p.S799S|SCN5A_uc010hhk.2_Silent_p.S799S|SCN5A_uc011ayr.1_Silent_p.S799S|SCN5A_uc010hhj.1_Silent_p.S410S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	799	Helical; Name=S3 of repeat II; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCTCATGCGGGACAGGCCCA	0.597			NA											6	29					0.00116845	0.00121817	0.001168	1	0
RBM6	10180	broad.mit.edu	37	3	50006042	50006042	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:50006042G>T	uc003cyc.2	+	3	1317	c.1184G>T	c.(1183-1185)GGG>GTG	p.G395V	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	395					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACTTTCTTGGGCGGCAAGAC	0.493			NA											27	63					3.65163e-15	5.50553e-15	0.00632	1	0
CCDC52	152185	broad.mit.edu	37	3	113212121	113212121	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:113212121C>A	uc003eag.3	-	6	715	c.424G>T	c.(424-426)GGT>TGT	p.G142C	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.G38C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	142					cell division|mitosis	centriole|spindle	protein binding				0						ACAATGGGACCCTGAGAGGAA	0.398			NA											16	27					7.07596e-05	7.6765e-05	0.006122	1	0
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:124211723G>A	uc003ehg.2	+	32	4947	c.4820G>A	c.(4819-4821)AGT>AAT	p.S1607N	KALRN_uc010hrv.1_Missense_Mutation_p.S1598N|KALRN_uc003ehf.1_Missense_Mutation_p.S1607N|KALRN_uc011bjy.1_Missense_Mutation_p.S1598N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGGAACAATAGTAAGAGGTAA	0.507			NA											20	42					0	0	0.010504	0	0
Unknown	0	broad.mit.edu	37	3	126915575	126915575	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:126915575G>T	uc003eji.1	+	2	287	c.47G>T	c.(46-48)CGT>CTT	p.R16L						RecName: Full=Putative uncharacterized protein C3orf56;												NA						AAGGTCCGCCGTGCCTTCGAG	0.607			NA											7	14					2.7689e-08	3.40609e-08	0.001984	1	0
RUVBL1	8607	broad.mit.edu	37	3	127823653	127823653	+	Missense_Mutation	SNP	A	A	C	rs150247734		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:127823653A>C	uc003ekh.2	-	4	580	c.476T>G	c.(475-477)ATA>AGA	p.I159R	RUVBL1_uc003ekf.2_Missense_Mutation_p.I99R|RUVBL1_uc010hss.2_Missense_Mutation_p.I159R	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	159					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		tttgagtcctatgatcacatg	0.239			NA											18	40					0	0	0.00499	0	0
ZIC1	7545	broad.mit.edu	37	3	147128353	147128353	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:147128353G>T	uc003ewe.2	+	1	1173	c.454G>T	c.(454-456)GGC>TGC	p.G152C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	152					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAGGCTGCCGGCCACGCGTC	0.716			NA											6	18					4.096e-09	5.19062e-09	0.001168	1	0
SI	6476	broad.mit.edu	37	3	164767594	164767594	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:164767594G>C	uc003fei.2	-	14	1644	c.1582C>G	c.(1582-1584)CCA>GCA	p.P528A		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	528	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAAACGGTGGATAATTCAAT	0.279			NA								HNSCC(35;0.089)			10	36					0	0	0.010729	0	0
FNDC3B	64778	broad.mit.edu	37	3	172058969	172058969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:172058969G>T	uc003fhy.2	+	17	2091	c.1919G>T	c.(1918-1920)GGC>GTC	p.G640V	FNDC3B_uc003fhz.3_Missense_Mutation_p.G640V	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	640	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTGAAACCAGGCACTTTGTAC	0.468			NA											46	118					1.23713e-20	2.11463e-20	0.00361	1	0
EVC2	132884	broad.mit.edu	37	4	5570366	5570366	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:5570366T>A	uc003gij.2	-	20	3416	c.3362A>T	c.(3361-3363)GAG>GTG	p.E1121V	EVC2_uc011bwb.1_Missense_Mutation_p.E561V|EVC2_uc003gik.2_Missense_Mutation_p.E1041V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1121						integral to membrane				large_intestine(3)|ovary(2)	5						CAGTCTCAGCTCCTACAGGAA	0.562			NA											7	9					0	0	0.001984	0	0
PI4K2B	55300	broad.mit.edu	37	4	25262192	25262192	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:25262192T>A	uc003grk.2	+	6	1090	c.957T>A	c.(955-957)TGT>TGA	p.C319*	PI4K2B_uc011bxs.1_Nonsense_Mutation_p.C223*	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	319	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				AGCAGAAATGTGAAAAGGAAA	0.229			NA											28	54					0	0	0.009535	0	0
PI4K2B	55300	broad.mit.edu	37	4	25262206	25262206	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:25262206A>C	uc003grk.2	+	6	1104	c.971A>C	c.(970-972)GAC>GCC	p.D324A	PI4K2B_uc011bxs.1_Missense_Mutation_p.D228A	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	324	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				AAGGAAATTGACCATAAGGTA	0.194			NA											20	44					0	0	0.012319	0	0
ARAP2	116984	broad.mit.edu	37	4	36109211	36109211	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:36109211C>T	uc003gsq.1	-	27	4599	c.4261G>A	c.(4261-4263)GCT>ACT	p.A1421T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1421					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTGTGTCAGCGGTTAAGAAT	0.423			NA											26	72					0	0	0.007291	0	0
PDGFRA	5156	broad.mit.edu	37	4	55151611	55151611	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55151611C>A	uc003han.3	+	17	2728	c.2397C>A	c.(2395-2397)ACC>ACA	p.T799T	PDGFRA_uc003haa.2_Silent_p.T559T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	799	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAGCTTCACCTATCAAGTTG	0.393	Pancreas(151;208 1913 7310 23853 37092)		NA	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			28	43					3.73988e-18	6.04135e-18	0.00632	1	0
PDGFRA	5156	broad.mit.edu	37	4	55155207	55155207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55155207G>T	uc003han.3	+	21	3137	c.2806G>T	c.(2806-2808)GAG>TAG	p.E936*	PDGFRA_uc003haa.2_Nonsense_Mutation_p.E696*	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	936	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTGGAACAGTGAGCCGGAGAA	0.537	Pancreas(151;208 1913 7310 23853 37092)		NA	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			13	35					1.49906e-05	1.66941e-05	0.00245	1	0
KDR	3791	broad.mit.edu	37	4	55981449	55981449	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55981449G>T	uc003has.2	-	4	790	c.488C>A	c.(487-489)GCA>GAA	p.A163E	KDR_uc003hat.1_Missense_Mutation_p.A163E|KDR_uc011bzx.1_Missense_Mutation_p.A163E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	163	Ig-like C2-type 2.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCAACTTACTGCACAAAGTGA	0.358			NA	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			11	20					1.08611e-07	1.29803e-07	0.010729	1	0
PPAT	5471	broad.mit.edu	37	4	57272723	57272723	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:57272723G>A	uc003hbr.2	-	3	542	c.340C>T	c.(340-342)CAT>TAT	p.H114Y		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	114	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATCTTCCCATGAAGTGTTTCA	0.383			NA											5	113					0	0	0.001984	0	0
REST	5978	broad.mit.edu	37	4	57798155	57798155	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:57798155G>A	uc003hch.2	+	4	3478	c.3131G>A	c.(3130-3132)AGA>AAA	p.R1044K	REST_uc003hci.2_Missense_Mutation_p.R1044K|REST_uc010ihf.2_Missense_Mutation_p.R718K	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	1044	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					GAATCTAGCAGAAAAAATGCA	0.443			NA											4	60					0	0	0.000602	0	0
LPHN3	23284	broad.mit.edu	37	4	62599194	62599194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:62599194G>T	uc010ihh.2	+	5	1290	c.1117G>T	c.(1117-1119)GAC>TAC	p.D373Y	LPHN3_uc003hcq.3_Missense_Mutation_p.D373Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D441Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D202Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	373	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CAACCCCAGGGACAACCTACT	0.398			NA											9	20					0.000274275	0.000289021	0.004482	1	0
SLC10A6	345274	broad.mit.edu	37	4	87770045	87770045	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:87770045T>A	uc003hqd.2	-	1	372	c.224A>T	c.(223-225)CAG>CTG	p.Q75L		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	75	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GAGCCCAAACTGGCAGAGCAG	0.552			NA											16	38					0	0	0.004007	0	0
TET2	54790	broad.mit.edu	37	4	106157551	106157551	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:106157551C>G	uc003hxk.2	+	3	2838	c.2452C>G	c.(2452-2454)CCT>GCT	p.P818A	TET2_uc011cez.1_Missense_Mutation_p.P839A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P818A|TET2_uc003hxi.1_Missense_Mutation_p.P818A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	818	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S817fs*2(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAGAAATTCCCCTTATAGTCA	0.363			NA	Mis N|F		MDS								6	64					0	0	0.001168	0	0
COL25A1	84570	broad.mit.edu	37	4	109745365	109745365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:109745365C>A	uc003hze.1	-	34	2341	c.1810G>T	c.(1810-1812)GGT>TGT	p.G604C	COL25A1_uc003hzg.2_Missense_Mutation_p.G604C|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G392C	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	604	Extracellular (Potential).|Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCTTCTCACCCCGTGGACCA	0.413			NA											17	59					5.3912e-06	6.07285e-06	0.006122	1	0
SPATA5	166378	broad.mit.edu	37	4	123949440	123949440	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:123949440G>T	uc003iez.3	+	11	2042	c.1969G>T	c.(1969-1971)GGT>TGT	p.G657C	SPATA5_uc003iey.2_Missense_Mutation_p.G656C	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	657					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						CATTCGAATGGGTATTCAGCC	0.448			NA											36	104					1.57351e-24	2.73736e-24	0.003755	1	0
FAT4	79633	broad.mit.edu	37	4	126411059	126411059	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:126411059G>T	uc003ifj.3	+	17	13082	c.13082G>T	c.(13081-13083)GGT>GTT	p.G4361V	FAT4_uc011cgp.1_Missense_Mutation_p.G2602V|FAT4_uc003ifi.1_Missense_Mutation_p.G1838V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4361	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTCCCAGCAGGTTTTGATGGC	0.418			NA											56	111					2.43277e-16	3.80444e-16	0.00361	1	0
INPP4B	8821	broad.mit.edu	37	4	143159166	143159166	+	Splice_Site	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:143159166T>C	uc003iix.3	-	13	1284	c.689_splice	c.e13-1	p.V230_splice	INPP4B_uc003iiw.3_Splice_Site_p.V230_splice|INPP4B_uc011chm.1_Splice_Site|INPP4B_uc011chn.1_Splice_Site_p.V45_splice|INPP4B_uc011cho.1_Splice_Site|INPP4B_uc011chp.1_Splice_Site_p.V101_splice	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					TCTTTAACACTGGAAAAAAAA	0.313			NA											4	19					0	0	0.009096	0	0
FAM105A	54491	broad.mit.edu	37	5	14601073	14601073	+	Splice_Site	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:14601073G>C	uc003jfj.2	+	2	178	c.65_splice	c.e2-1	p.G22_splice		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491											ovary(1)	1	Lung NSC(4;0.00592)					AATTTTCATAGGAAGTGACCA	0.353			NA											16	24					0	0	0.004007	0	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:23527675C>A	uc003jgo.2	+	11	2660	c.2478C>A	c.(2476-2478)CAC>CAA	p.H826Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826	C2H2-type 12.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAGGACACACACAGGGGAGA	0.582			NA								HNSCC(3;0.000094)			48	165					3.89483e-19	6.43303e-19	0.00361	1	0
CRHBP	1393	broad.mit.edu	37	5	76249022	76249022	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:76249022G>A	uc003ker.2	+	1	343	c.63G>A	c.(61-63)GGG>GGA	p.G21G	CRHBP_uc010izx.2_Silent_p.G21G	NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	21					female pregnancy|learning or memory|signal transduction	soluble fraction					0		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CTCTAAGAGGGGAAAGCCGGT	0.597			NA											8	21					0	0	0.00308	0	0
VCAN	1462	broad.mit.edu	37	5	82835845	82835845	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:82835845A>T	uc003kii.3	+	8	7379	c.7023A>T	c.(7021-7023)GCA>GCT	p.A2341A	VCAN_uc003kij.3_Silent_p.A1354A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.A1005A	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2341	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACACTGGAGCAGAAGGACCCA	0.468			NA											21	69					0	0	0.010504	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159951	132159951	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:132159951T>C	uc003kxx.2	-	7	2207	c.1402A>G	c.(1402-1404)AGC>GGC	p.S468G	SHROOM1_uc003kxy.1_Missense_Mutation_p.S468G	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	468					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGTGTGGCTTGTGGGCCTG	0.567			NA											18	35					0	0	0.006122	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140209817C>A	uc003lho.2	+	1	2168	c.2141C>A	c.(2140-2142)ACG>AAG	p.T714K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.T714K	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	714	Helical; (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706			NA											28	96					1.16021e-09	1.5093e-09	0.007291	1	0
PCDHA13	56136	broad.mit.edu	37	5	140264050	140264050	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140264050G>T	uc003lif.2	+	1	2197	c.2197G>T	c.(2197-2199)GCG>TCG	p.A733S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A733S|PCDHA13_uc003lid.2_Missense_Mutation_p.A733S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	733	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTGCGCGCCGGGCAA	0.672	Melanoma(147;1739 1852 5500 27947 37288)		NA											26	92					1.03484e-13	1.50615e-13	0.005524	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347559	140347559	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140347559G>T	uc003lii.2	+	1	1448	c.1208G>T	c.(1207-1209)GGT>GTT	p.G403V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.G403V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	403	Extracellular (Potential).|Cadherin 4.				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)			GTGAGCCTGGGTCTGGAGGCC	0.567	Melanoma(190;638 2083 3390 11909 52360)		NA											20	85					0.00152264	0.00158182	0.010504	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481682	140481682	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140481682C>A	uc003lio.2	+	1	1449	c.1449C>A	c.(1447-1449)AAC>AAA	p.N483K	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	483	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCACCAACGCCCAGGTAA	0.632			NA											65	188					9.68594e-22	1.6751e-21	0.00361	1	0
PCDHB9	56127	broad.mit.edu	37	5	140567037	140567037	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140567037G>C	uc003liw.1	+	1	145	c.145G>C	c.(145-147)GCA>CCA	p.A49P		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	49	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCAATCTGGCAAAGGATCT	0.502			NA											31	63					0	0	0.00874	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720462	140720462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140720462C>A	uc003ljk.1	+	1	2109	c.1924C>A	c.(1924-1926)CTC>ATC	p.L642I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.L642I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	642	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCAGAGCCTCGTGGTGGC	0.701			NA											52	110					1.66251e-12	2.36124e-12	0.00361	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140769345	140769345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140769345G>T	uc003lkc.1	+	1	1894	c.1894G>T	c.(1894-1896)GAC>TAC	p.D632Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.D632Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	632	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTAGGCGACAGGGACGC	0.697			NA											25	50					1.64293e-13	2.37942e-13	0.00333	1	0
ARAP3	64411	broad.mit.edu	37	5	141050083	141050083	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:141050083C>A	uc003llm.2	-	14	2181	c.2103G>T	c.(2101-2103)CGG>CGT	p.R701R	ARAP3_uc011dbe.1_Silent_p.R363R|ARAP3_uc003lln.2_Silent_p.R603R	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	701					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CCTCACCATCCCGGCCCCTGC	0.602			NA											42	121					2.64894e-19	4.39994e-19	0.00361	1	0
GABRA6	2559	broad.mit.edu	37	5	161128508	161128508	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:161128508C>A	uc003lyu.2	+	9	1429	c.1091C>A	c.(1090-1092)CCT>CAT	p.P364H	GABRA6_uc003lyv.2_Missense_Mutation_p.P135H	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	364	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACAGCATCCTGACTCCAAA	0.358			NA								TCGA Ovarian(5;0.080)			30	93					2.81731e-10	3.7995e-10	0.010818	1	0
BRD2	6046	broad.mit.edu	37	6	32943871	32943871	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:32943871T>G	uc003ocn.3	+	5	2236	c.535T>G	c.(535-537)TCA>GCA	p.S179A	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S179A|BRD2_uc003ocp.3_Missense_Mutation_p.S59A|BRD2_uc010juh.2_Missense_Mutation_p.S179A	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	179					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GAAGGTTGCATCAATGCCACA	0.438			NA											20	43					0	0	0.007413	0	0
PIM1	5292	broad.mit.edu	37	6	37138393	37138393	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:37138393C>T	uc003onk.2	+	1	472	c.42C>T	c.(40-42)GCC>GCT	p.A14A	PIM1_uc011dtw.1_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	105					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACCTGCGCGCCGCGCCCTGCA	0.721			NA	T	BCL6	NHL								7	36					0	0	0.001984	0	0
PHF3	23469	broad.mit.edu	37	6	64394074	64394074	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:64394074A>G	uc003pep.1	+	3	477	c.451A>G	c.(451-453)AAT>GAT	p.N151D	PHF3_uc010kaf.1_Missense_Mutation_p.N151D|PHF3_uc003pem.2_Missense_Mutation_p.N104D|PHF3_uc010kag.1_Missense_Mutation_p.N63D|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Missense_Mutation_p.N63D|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.N151D	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	151					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAAGCGTTCAAATGCAGCACC	0.373	GBM(135;136 1820 29512 34071 46235)		NA											48	117					0	0	0.00361	0	0
BAI3	577	broad.mit.edu	37	6	70070841	70070841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:70070841G>T	uc003pev.3	+	29	4124	c.3676G>T	c.(3676-3678)GAA>TAA	p.E1226*	BAI3_uc010kak.2_Nonsense_Mutation_p.E1226*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E432*	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1226	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGATGATGAAGAAGAAAAGGG	0.423			NA											16	40					4.7546e-09	5.99937e-09	0.004007	1	0
COL19A1	1310	broad.mit.edu	37	6	70831782	70831782	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:70831782G>T	uc003pfc.1	+	17	1406	c.1289G>T	c.(1288-1290)GGA>GTA	p.G430V	COL19A1_uc010kam.1_Missense_Mutation_p.G326V	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	430					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						GGACCTCCTGGAATACAAGGA	0.269			NA											19	53					3.8784e-16	5.9699e-16	0.012319	1	0
DOPEY1	23033	broad.mit.edu	37	6	83823102	83823102	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:83823102G>A	uc003pjs.1	+	7	1002	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DOPEY1_uc011dyy.1_Missense_Mutation_p.D248N|DOPEY1_uc010kbl.1_Missense_Mutation_p.D248N	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	248					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCACACTGGACCTCATACT	0.373			NA											17	56					0	0	0.010504	0	0
EPHA7	2045	broad.mit.edu	37	6	94066441	94066441	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:94066441G>T	uc003poe.2	-	5	1559	c.1318C>A	c.(1318-1320)CAA>AAA	p.Q440K	EPHA7_uc003pof.2_Missense_Mutation_p.Q440K|EPHA7_uc011eac.1_Missense_Mutation_p.Q440K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	440	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATACCTGCTTGACCAGTGGTG	0.408			NA											23	52					3.01185e-09	3.84993e-09	0.003954	1	0
SMPD2	6610	broad.mit.edu	37	6	109762562	109762562	+	Missense_Mutation	SNP	G	G	A	rs138354272		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:109762562G>A	uc003pti.2	+	2	447	c.53G>A	c.(52-54)GGC>GAC	p.G18D	PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank|SMPD2_uc010kdq.2_Missense_Mutation_p.G18D	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	18					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TTCCTTAGGGGCATTCCGTAC	0.627			NA											3	51					0	0	0.004672	0	0
RFX6	222546	broad.mit.edu	37	6	117198593	117198593	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:117198593A>T	uc003pxm.2	+	1	218	c.155A>T	c.(154-156)CAG>CTG	p.Q52L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	52					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						GCCGAAGGGCAGCCCGGGGGC	0.657			NA											3	9					0	0	0.009096	0	0
THEMIS	387357	broad.mit.edu	37	6	128134635	128134635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:128134635G>T	uc003qbi.2	-	5	1470	c.1151C>A	c.(1150-1152)TCT>TAT	p.S384Y	THEMIS_uc010kfa.2_Missense_Mutation_p.S287Y|THEMIS_uc011ebt.1_Missense_Mutation_p.S384Y|THEMIS_uc010kfb.2_Missense_Mutation_p.S349Y	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	384	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GTCCCCAACAGATACGGATGA	0.488			NA											34	77					3.11337e-16	4.84303e-16	0.002836	1	0
INTS1	26173	broad.mit.edu	37	7	1538656	1538656	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:1538656C>A	uc003skn.2	-	8	1193	c.1092G>T	c.(1090-1092)CGG>CGT	p.R364R	INTS1_uc003skq.2_Silent_p.R364R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	364					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGCCAGCAGCCGCACCTCCT	0.557			NA											6	4					3.59834e-05	3.96221e-05	0.001168	1	0
BBS9	27241	broad.mit.edu	37	7	33313545	33313545	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:33313545A>T	uc003tdn.1	+	9	1506	c.993A>T	c.(991-993)GTA>GTT	p.V331V	BBS9_uc003tdo.1_Silent_p.V331V|BBS9_uc003tdp.1_Silent_p.V331V|BBS9_uc003tdq.1_Silent_p.V331V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.V331V|BBS9_uc011kao.1_Silent_p.V209V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	331					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACATTCCTGTAGCAGTAAGAG	0.343			NA							Bardet-Biedl_syndrome				12	40					0	0	0.001855	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175827	71175827	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:71175827G>T	uc003tvy.2	+	10	1582	c.1582G>T	c.(1582-1584)GTG>TTG	p.V528L	WBSCR17_uc003tvz.2_Missense_Mutation_p.V227L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	528	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGCTGCCTGGTGGACAACTC	0.607			NA											19	66					1.56452e-12	2.23286e-12	0.007413	1	0
RHBDD2	57414	broad.mit.edu	37	7	75511505	75511505	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:75511505C>T	uc003udw.1	+	2	621	c.537C>T	c.(535-537)CCC>CCT	p.P179P	RHBDD2_uc003udv.1_Silent_p.P38P	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	179						integral to membrane	serine-type endopeptidase activity				0						GGCTCATTCCCCAGACCTCTT	0.592			NA											7	32					0	0	0.00308	0	0
STEAP4	79689	broad.mit.edu	37	7	87912286	87912286	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:87912286A>G	uc003ujs.2	-	3	759	c.654T>C	c.(652-654)TGT>TGC	p.C218C	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Silent_p.C218C	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	218					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					CTCTTATAACACAATAGAAAA	0.373			NA											28	52					0	0	0.005443	0	0
GTPBP10	85865	broad.mit.edu	37	7	89984398	89984398	+	Splice_Site	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:89984398A>T	uc003ukm.1	+	4	386	c.320_splice	c.e4-2	p.G107_splice	GTPBP10_uc003uki.1_Splice_Site_p.G124_splice|GTPBP10_uc003ukj.1_Splice_Site_p.G98_splice|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_Splice_Site|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2						ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0						CCTCTTTTTAAGGAGAACTCA	0.318			NA											21	44					0	0	0.012319	0	0
CALCR	799	broad.mit.edu	37	7	93116272	93116272	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:93116272G>A	uc003umv.1	-	3	337	c.76C>T	c.(76-78)CGG>TGG	p.R26W	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R8W|CALCR_uc003umw.2_Missense_Mutation_p.R8W|MIR489_hsa-mir-489|MI0003124_5'Flank	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	8					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCAAGCACCGGCTTGTAAAT	0.313			NA											32	84					0	0	0.003271	0	0
MUC17	140453	broad.mit.edu	37	7	100677722	100677722	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:100677722G>T	uc003uxp.1	+	3	3078	c.3025G>T	c.(3025-3027)GAC>TAC	p.D1009Y	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1009	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					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)					AACTCCTGTTGACTCCAACAC	0.522			NA											49	792					1.41219e-46	2.59489e-46	0.00361	1	0
MUC17	140453	broad.mit.edu	37	7	100680018	100680018	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:100680018T>C	uc003uxp.1	+	3	5374	c.5321T>C	c.(5320-5322)ATT>ACT	p.I1774T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1774	Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich.					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)					GCAACTCCTATTGACACCAGC	0.498			NA											155	382					0	0	0.00361	0	0
LAMB4	22798	broad.mit.edu	37	7	107752264	107752264	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:107752264G>T	uc010ljo.1	-	4	404	c.320C>A	c.(319-321)TCT>TAT	p.S107Y	LAMB4_uc003vey.2_Missense_Mutation_p.S107Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	107	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						ACCATTTTCAGATTGCCACCA	0.343			NA											23	71					1.10923e-09	1.4494e-09	0.00278	1	0
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:123593796G>A	uc003vld.2	+	4	574	c.172G>A	c.(172-174)GAA>AAA	p.E58K	SPAM1_uc003vle.2_Missense_Mutation_p.E58K|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.E58K|SPAM1_uc010lku.2_Missense_Mutation_p.E58K	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	58					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	TGCCCCAAGTGAATTTTGTCT	0.448			NA											8	30					0	0	0.00308	0	0
SND1	27044	broad.mit.edu	37	7	127343309	127343309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:127343309C>T	uc003vmi.2	+	7	998	c.772C>T	c.(772-774)CAG>TAG	p.Q258*		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	258	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GCGACTGCTTCAGAGAGATGT	0.493			NA											22	47					0	0	0.00278	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829511	146829511	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:146829511G>T	uc003weu.1	+	8	1774	c.1258G>T	c.(1258-1260)GGC>TGC	p.G420C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	420	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGATAATTTGGGCAATGTGGA	0.478			NA								HNSCC(39;0.1)			13	46					7.03913e-09	8.76908e-09	0.001368	1	0
SGCZ	137868	broad.mit.edu	37	8	14095116	14095116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:14095116C>A	uc003wwq.2	-	4	1069	c.409G>T	c.(409-411)GGA>TGA	p.G137*	SGCZ_uc010lss.2_Nonsense_Mutation_p.G90*	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	124	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G137R(1)		ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCAGCTGTCCGGTTAACTGC	0.338			NA											95	263					1.478e-36	2.64959e-36	0.00361	1	0
CDCA2	157313	broad.mit.edu	37	8	25364831	25364831	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:25364831G>T	uc003xep.1	+	15	3128	c.2649G>T	c.(2647-2649)AGG>AGT	p.R883S	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R868S|CDCA2_uc003xer.1_Missense_Mutation_p.R546S	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	883					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCTTTCAGAGGAGAAATAGTG	0.423			NA											27	75					1.2476e-16	1.96147e-16	0.00632	1	0
TEX15	56154	broad.mit.edu	37	8	30705213	30705213	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:30705213A>T	uc003xil.2	-	1	1321	c.1321T>A	c.(1321-1323)TAT>AAT	p.Y441N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	441										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTTCTTTATAGTCTCTCTGA	0.338			NA											66	139					0	0	0.00361	0	0
FUT10	84750	broad.mit.edu	37	8	33310750	33310750	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:33310750T>G	uc003xje.2	-	3	716	c.360A>C	c.(358-360)AAA>AAC	p.K120N	FUT10_uc003xjc.2_Missense_Mutation_p.K127N|FUT10_uc003xjd.2_Missense_Mutation_p.K92N|FUT10_uc011lbi.1_Missense_Mutation_p.K170N|FUT10_uc003xjf.2_Missense_Mutation_p.S46R|FUT10_uc003xjg.2_Missense_Mutation_p.K92N|FUT10_uc003xjh.2_Missense_Mutation_p.K120N|FUT10_uc003xji.1_Missense_Mutation_p.K120N	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	120	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGAATGCTTTGGTCATGT	0.507			NA											19	47					0	0	0.00333	0	0
ADRB3	155	broad.mit.edu	37	8	37823632	37823632	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:37823632A>T	uc003xkr.1	-	1	553	c.356T>A	c.(355-357)CTG>CAG	p.L119Q		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	119	Helical; Name=3; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	GGTCACACACAGCACGTCCAC	0.692			NA											9	13					0	0	0.006214	0	0
ANK1	286	broad.mit.edu	37	8	41555583	41555583	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:41555583A>T	uc003xok.2	-	24	2699	c.2615T>A	c.(2614-2616)ATC>AAC	p.I872N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.I188N|ANK1_uc003xoi.2_Missense_Mutation_p.I872N|ANK1_uc003xoj.2_Missense_Mutation_p.I872N|ANK1_uc003xol.2_Missense_Mutation_p.I872N|ANK1_uc003xom.2_Missense_Mutation_p.I913N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	872					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTGACCTGATCACCACTGT	0.562			NA											12	26					0	0	0.00245	0	0
C8orf37	157657	broad.mit.edu	37	8	96272100	96272100	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:96272100A>C	uc003yho.1	-	4	362	c.342T>G	c.(340-342)ATT>ATG	p.I114M		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	hypothetical protein LOC157657	114											0	Breast(36;3.41e-05)					TCCCACATGGAATAGAGCTTC	0.358			NA											30	57					0	0	0.003271	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388119	104388119	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:104388119T>C	uc003ylk.2	+	2	403	c.304T>C	c.(304-306)TGG>CGG	p.W102R	CTHRC1_uc011lhq.1_Missense_Mutation_p.W102R	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	102						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGAGGAGTCCTGGACACCCAA	0.463			NA											14	29					0	0	0.00245	0	0
PARP10	84875	broad.mit.edu	37	8	145058713	145058713	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:145058713C>T	uc003zal.3	-	5	1565	c.1457G>A	c.(1456-1458)CGG>CAG	p.R486Q	PARP10_uc003zak.3_Missense_Mutation_p.R192Q|PARP10_uc011lku.1_Missense_Mutation_p.R498Q|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.R486Q|PARP10_uc010mfn.1_Missense_Mutation_p.R401Q|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	486						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCACTCACCCGAAAGCCAGT	0.582			NA											25	38					0	0	0.00278	0	0
DMRT3	58524	broad.mit.edu	37	9	990397	990397	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:990397C>A	uc003zgw.1	+	2	849	c.811C>A	c.(811-813)CTC>ATC	p.L271I		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	271					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGAGCTCATCCTCAAGGGCTG	0.562			NA											28	47					9.65963e-10	1.26783e-09	0.003271	1	0
SLC24A2	25769	broad.mit.edu	37	9	19786488	19786488	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:19786488G>A	uc003zoa.1	-	1	439	c.377C>T	c.(376-378)TCC>TTC	p.S126F	SLC24A2_uc003zob.1_Missense_Mutation_p.S126F	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	126	Extracellular (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTCCTCAAGGGAAAAGATGTC	0.438			NA											29	49					0	0	0.008361	0	0
TAF1L	138474	broad.mit.edu	37	9	32631110	32631110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:32631110G>A	uc003zrg.1	-	1	4558	c.4468C>T	c.(4468-4470)CAA>TAA	p.Q1490*	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1490					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCATGGATTGAGAGATCTGA	0.433			NA											36	97					0	0	0.003755	0	0
SPINK4	27290	broad.mit.edu	37	9	33248442	33248442	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:33248442C>A	uc003zsh.2	+	4	245	c.234C>A	c.(232-234)ATC>ATA	p.I78I	SUGT1P1_uc010mjq.1_Intron	NM_014471	NP_055286	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	78	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0			LUSC - Lung squamous cell carcinoma(29;0.00506)			AACAGGACATCCAGATCATGA	0.498			NA											5	30					0.000602214	0.000632325	0.000602	1	0
TLN1	7094	broad.mit.edu	37	9	35722169	35722169	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:35722169C>A	uc003zxt.2	-	9	1249	c.895G>T	c.(895-897)GTG>TTG	p.V299L		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	299	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTAGCTTCACGTAGCGGACC	0.488			NA											22	50					1.77063e-15	2.69723e-15	0.005443	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318531	79318531	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:79318531G>T	uc010mpk.2	-	9	8122	c.7998C>A	c.(7996-7998)CTC>CTA	p.L2666L	PRUNE2_uc004akj.3_Silent_p.L119L|PRUNE2_uc010mpl.1_Silent_p.L119L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2666					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CACCCAAGCCGAGTTCAGAGA	0.552			NA											15	37					1.15088e-07	1.36987e-07	0.004007	1	0
SVEP1	79987	broad.mit.edu	37	9	113169975	113169975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:113169975C>A	uc010mtz.2	-	38	8242	c.7905G>T	c.(7903-7905)GAG>GAT	p.E2635D	SVEP1_uc010mty.2_Missense_Mutation_p.E561D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2635					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CGTCTTCTTGCTCAAAATATC	0.443			NA											51	166					1.22102e-19	2.05131e-19	0.00361	1	0
PAPPA	5069	broad.mit.edu	37	9	119065076	119065076	+	Silent	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:119065076A>C	uc004bjn.2	+	10	3375	c.2994A>C	c.(2992-2994)GTA>GTC	p.V998V	PAPPA_uc011lxp.1_Silent_p.V693V|PAPPA_uc011lxq.1_Silent_p.V373V	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	998					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GTGATGGGGTATGTGAGGAGT	0.448			NA											3	65					0	0	0.004672	0	0
OR1J4	26219	broad.mit.edu	37	9	125282323	125282323	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:125282323G>A	uc011lyw.1	+	1	904	c.904G>A	c.(904-906)GAG>AAG	p.E302K		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGGAGCCCTGGAGAGACTCTT	0.423			NA											14	38					0	0	0.003163	0	0
CRB2	286204	broad.mit.edu	37	9	126132529	126132529	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:126132529C>A	uc004bnx.1	+	7	1289	c.1197C>A	c.(1195-1197)GGC>GGA	p.G399G	CRB2_uc004bnw.1_Silent_p.G399G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	399	Extracellular (Potential).|EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						AGCTCACTGGCTGCCAGGGCC	0.642			NA											18	29					2.94398e-08	3.60638e-08	0.007413	1	0
NUP188	23511	broad.mit.edu	37	9	131747255	131747255	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:131747255A>T	uc004bws.1	+	20	2060	c.2038A>T	c.(2038-2040)ACT>TCT	p.T680S	NUP188_uc004bwu.2_Missense_Mutation_p.T23S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	680					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GTATGGGGTTACTATTGCCTT	0.468			NA									OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	72					0	0	0.002299	0	0
CACNA1B	774	broad.mit.edu	37	9	140954117	140954117	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:140954117A>T	uc004cog.2	+	31	4741	c.4596A>T	c.(4594-4596)AGA>AGT	p.R1532S	CACNA1B_uc011mfd.1_Missense_Mutation_p.R1062S|CACNA1B_uc004coi.2_Missense_Mutation_p.R746S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1532	Cytoplasmic (Potential).|IV.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACTATTTCAGAGATGCCTGGA	0.428			NA											36	84					0	0	0.005524	0	0
ARSF	416	broad.mit.edu	37	X	3019232	3019232	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:3019232C>A	uc004cre.1	+	8	1293	c.1072C>A	c.(1072-1074)CAA>AAA	p.Q358K	ARSF_uc004crf.1_Missense_Mutation_p.Q358K	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	358						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCATGCCCAACTTGGTGG	0.438			NA											37	25					9.73076e-26	1.70288e-25	0.006999	1	0
GEMIN8	54960	broad.mit.edu	37	X	14038355	14038355	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:14038355C>T	uc004cwb.2	-	4	657	c.314G>A	c.(313-315)AGG>AAG	p.R105K	GEMIN8_uc004cwc.2_Missense_Mutation_p.R105K|GEMIN8_uc004cwd.2_Missense_Mutation_p.R105K	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	105					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						TGCCTGGATCCTACTGCTGTA	0.483			NA											57	102					0	0	0.00361	0	0
CXorf22	170063	broad.mit.edu	37	X	35966464	35966464	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:35966464C>A	uc004ddj.2	+	4	610	c.551C>A	c.(550-552)CCC>CAC	p.P184H	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	184										large_intestine(1)|lung(1)|ovary(1)	3						GGCCAATTACCCATCCTCATT	0.403			NA											44	25					2.68985e-26	4.73543e-26	0.00361	1	0
KDM6A	7403	broad.mit.edu	37	X	44918511	44918511	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:44918511A>T	uc004dge.3	+	12	1369	c.994A>T	c.(994-996)AAT>TAT	p.N332Y	KDM6A_uc010nhk.2_Missense_Mutation_p.N332Y|KDM6A_uc011mkz.1_Missense_Mutation_p.N332Y|KDM6A_uc011mla.1_Missense_Mutation_p.N332Y|KDM6A_uc011mlb.1_Missense_Mutation_p.N332Y|KDM6A_uc011mlc.1_Missense_Mutation_p.N81Y|KDM6A_uc011mld.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	332	TPR 7.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TCAGCAGCAAAATCAGCCCAT	0.398	Colon(129;1273 1667 15230 27352 52914)		NA	D|N|F|S		renal|oesophageal SCC|MM								13	8					0	0	0.00245	0	0
CACNA1F	778	broad.mit.edu	37	X	49066115	49066115	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:49066115C>A	uc004dnb.2	-	41	4890	c.4828G>T	c.(4828-4830)GCC>TCC	p.A1610S	CACNA1F_uc010nip.2_Missense_Mutation_p.A1599S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1610	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GTGCTAGGGGCGGCGTCGTTG	0.572			NA											12	7					7.03913e-09	8.76908e-09	0.001368	1	0
MTMR8	55613	broad.mit.edu	37	X	63445215	63445215	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:63445215C>T	uc011mou.1	-	10	1509	c.1441G>A	c.(1441-1443)GCA>ACA	p.A481T	ASB12_uc004dvp.1_Missense_Mutation_p.A97T|ASB12_uc004dvq.1_Missense_Mutation_p.A106T|ASB12_uc004dvr.1_Missense_Mutation_p.A106T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						GGCGTCTGTGCCTTGACATCC	0.527			NA											3	10					0	0	0.004672	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131959	91131959	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:91131959T>C	uc004efk.1	+	2	1565	c.720T>C	c.(718-720)ACT>ACC	p.T240T	PCDH11X_uc004efl.1_Silent_p.T240T|PCDH11X_uc004efo.1_Silent_p.T240T|PCDH11X_uc010nmv.1_Silent_p.T240T|PCDH11X_uc004efm.1_Silent_p.T240T|PCDH11X_uc004efn.1_Silent_p.T240T|PCDH11X_uc004efh.1_Silent_p.T240T|PCDH11X_uc004efj.1_Silent_p.T240T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	240	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TGAGTGTTACTGATACAAATG	0.428	NSCLC(38;925 1092 2571 38200 45895)		NA											57	51					0	0	0.00361	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6954409	6954409	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrY:6954409C>T	uc004frb.2	+	16	1878	c.1231C>T	c.(1231-1233)CCC>TCC	p.P411S	TBL1Y_uc004frc.2_Missense_Mutation_p.P411S|TBL1Y_uc004frd.2_Missense_Mutation_p.P411S|TBL1Y_uc011nap.1_Missense_Mutation_p.P253S	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	411	WD 6.				transcription, DNA-dependent						0						CAAGTGGAGCCCCACCGGGCC	0.552			NA											10	4					0	0	0.008291	0	0
ASH1L	55870	broad.mit.edu	37	1	155451804	155451804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:155451804delT	uc009wqq.2	-	3	1337	c.857delA	c.(856-858)GATfs	p.D286fs	ASH1L_uc001fkt.2_Frame_Shift_Del_p.D286fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.D286fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	286					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCCAGGATCTTTAGTTAC	0.403			NA											100	97	---	---	---	---	NA	NA	NA	NA	NA
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	CGC	CGC	-	-	CGC	CGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:111020740_111020742delCGC	uc001trh.1	-	1	323_325	c.95_97delGCG	c.(94-99)GGCGAC>GAC	p.G32del		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	T-cell activation protein phosphatase 2C	32	Gly-rich.						metal ion binding|phosphoprotein phosphatase activity				0						AGTCCGTAGTcgccgccgccgcc	0.611			NA											6	3	---	---	---	---	NA	NA	NA	NA	NA
RNF6	6049	broad.mit.edu	37	13	26788700	26788700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:26788700delC	uc001uqo.2	-	5	1610	c.1319delG	c.(1318-1320)GGCfs	p.G440fs	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Frame_Shift_Del_p.G440fs|RNF6_uc001uqp.2_Frame_Shift_Del_p.G440fs|RNF6_uc001uqq.2_Frame_Shift_Del_p.G440fs|RNF6_uc010tdk.1_Frame_Shift_Del_p.G84fs	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	440					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCGGCGAAAGCCCCCACTATT	0.433			NA											31	94	---	---	---	---	NA	NA	NA	NA	NA
AKAP13	11214	broad.mit.edu	37	15	86236596	86236597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:86236596_86236597insT	uc002blv.1	+	17	5548_5549	c.5378_5379insT	c.(5377-5379)ACTfs	p.T1793fs	AKAP13_uc002blu.1_Frame_Shift_Ins_p.T1797fs|AKAP13_uc010bnf.1_Frame_Shift_Ins_p.T415fs|AKAP13_uc002blw.1_Frame_Shift_Ins_p.T260fs|AKAP13_uc002blx.1_Frame_Shift_Ins_p.T38fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1793	Phorbol-ester/DAG-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AACGGGCACACTTTCAGTTCCA	0.302	Melanoma(94;603 1453 3280 32295 32951)		NA											47	119	---	---	---	---	NA	NA	NA	NA	NA
PSG5	5673	broad.mit.edu	37	19	43689239	43689239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:43689239delG	uc002ovu.2	-	2	256	c.125delC	c.(124-126)CCAfs	p.P42fs	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'UTR|PSG5_uc002ovx.2_Frame_Shift_Del_p.P42fs|PSG5_uc002ovv.2_Frame_Shift_Del_p.P42fs|PSG5_uc002ovw.2_Frame_Shift_Del_p.P42fs	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	42	Ig-like V-type.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				AACTTTGGGTGGCAGGGCTTC	0.473			NA											72	191	---	---	---	---	NA	NA	NA	NA	NA
TNS1	7145	broad.mit.edu	37	2	218682911	218682936	+	Frame_Shift_Del	DEL	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	-	rs140195511	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	-	-	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA	uc002vgt.2	-	24	4205_4230	c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG	c.(3805-3834)AGTCCCAGCCTGGGCCGGCACCCTGGGGCTfs	p.S1269fs	TNS1_uc002vgr.2_Frame_Shift_Del_p.S1256fs|TNS1_uc002vgs.2_Frame_Shift_Del_p.S1248fs|TNS1_uc010zjv.1_Frame_Shift_Del_p.S1248fs	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1269_1278						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTGGTGAGCCCCAGGGTGCCGGCCCAGGCTGGGACTCCCCGGGG	0.673			NA											10	31	---	---	---	---	NA	NA	NA	NA	NA
DTWD2	285605	broad.mit.edu	37	5	118183864	118183864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:118183864delG	uc003ksa.2	-	5	681	c.647delC	c.(646-648)CCGfs	p.P216fs		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	216											0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TCTATTAGTCGGCTGCATCCG	0.313			NA											17	80	---	---	---	---	NA	NA	NA	NA	NA
SEC63	11231	broad.mit.edu	37	6	108193003	108193003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:108193003delC	uc003psc.3	-	21	2457	c.2188delG	c.(2188-2190)GATfs	p.D730fs	SEC63_uc003psb.3_Frame_Shift_Del_p.D557fs	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	730	Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATTGCTGTATCCCACTGTGGG	0.433			NA											55	106	---	---	---	---	NA	NA	NA	NA	NA
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:131019389_131019390insA	uc011maw.1	-	26	2978_2979	c.2965_2966insT	c.(2965-2967)TACfs	p.Y989fs	GOLGA2_uc010mxw.2_Frame_Shift_Ins_p.Y312fs|GOLGA2_uc004buh.2_Frame_Shift_Ins_p.Y339fs	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	989						Golgi cisterna membrane	protein binding			ovary(1)	1						GTCAGCCCGGTAAAAAAAAGGA	0.564			NA											7	172	---	---	---	---	NA	NA	NA	NA	NA
RBM10	8241	broad.mit.edu	37	X	47028743	47028744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:47028743_47028744insT	uc004dhf.2	+	3	426_427	c.47_48insT	c.(46-48)TATfs	p.Y16fs	RBM10_uc004dhe.1_Frame_Shift_Ins_p.M14fs|RBM10_uc004dhg.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc004dhh.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc010nhq.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc004dhi.2_Frame_Shift_Ins_p.Y81fs	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	16					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						ACTGGCCGCTATGGAGCCACTG	0.579	Melanoma(171;120 2705 19495 39241)		NA											16	21	---	---	---	---	NA	NA	NA	NA	NA
