Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
ZBTB48	3104	broad.mit.edu	37	1	6646027	6646027	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:6646027T>C	uc009vmc.1	+	4	1104	c.981T>C	c.(979-981)TGT>TGC	p.C327C	ZBTB48_uc001anx.2_Silent_p.C327C|ZBTB48_uc009vmd.1_Silent_p.C327C|ZBTB48_uc001any.1_5'UTR	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	327	C2H2-type 2; degenerate.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGGAAGTGTTACTTTCGGA	0.572000												
VPS13D	55187	broad.mit.edu	37	1	12336395	12336395	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:12336395T>G	uc001atv.2	+	19	2891	c.2750T>G	c.(2749-2751)ATT>AGT	p.I917S	VPS13D_uc001atw.2_Missense_Mutation_p.I917S|VPS13D_uc001atx.2_Missense_Mutation_p.I105S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	917					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGAAAAGATTTTTCCCCAG	0.433000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF17	57576	broad.mit.edu	37	1	21031296	21031296	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:21031296C>T	uc001bdr.3	-	5	885	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	KIF17_uc001bds.3_Missense_Mutation_p.R256Q	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	256	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTCCTTGAGCCGCTCGCCCGT	0.682000												
EIF4G3	8672	broad.mit.edu	37	1	21177780	21177780	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:21177780T>G	uc001bec.2	-	23	3831	c.3575A>C	c.(3574-3576)GAG>GCG	p.E1192A	EIF4G3_uc010odi.1_Missense_Mutation_p.E796A|EIF4G3_uc010odj.1_Missense_Mutation_p.E1191A|EIF4G3_uc009vpz.2_Missense_Mutation_p.E912A|EIF4G3_uc001bed.2_Missense_Mutation_p.E1192A|EIF4G3_uc001bef.2_Missense_Mutation_p.E1228A|EIF4G3_uc001bee.2_Missense_Mutation_p.E1198A	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1192					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGCTCAGCCTCAGTGCTGTT	0.463000												
FHL3	2275	broad.mit.edu	37	1	38465047	38465047	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:38465047G>A	uc001ccj.2	-	2	125	c.38C>T	c.(37-39)TCC>TTC	p.S13F	FHL3_uc001cck.2_Missense_Mutation_p.S13F|FHL3_uc001ccl.2_Missense_Mutation_p.S13F|FHL3_uc001ccm.2_Intron|FHL3_uc009vvl.1_Missense_Mutation_p.S13F	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	13	C4-type (Potential).				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCATACAGGGACTCGTTGCA	0.542000												
ROR1	4919	broad.mit.edu	37	1	64608163	64608163	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:64608163A>G	uc001dbj.2	+	7	1403	c.1004A>G	c.(1003-1005)CAG>CGG	p.Q335R	ROR1_uc001dbi.3_Missense_Mutation_p.Q335R|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	335	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CGCCAGTGCCAGCCATGGAAT	0.527000												
DIRAS3	9077	broad.mit.edu	37	1	68512316	68512316	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:68512316A>T	uc001ded.2	-	2	960	c.665T>A	c.(664-666)CTG>CAG	p.L222Q	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	222					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						CTTGTCAAGCAGCTTCTCAGT	0.502000												
WDR63	126820	broad.mit.edu	37	1	85564286	85564286	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:85564286A>G	uc001dkt.2	+	13	1615	c.1424A>G	c.(1423-1425)GAA>GGA	p.E475G	WDR63_uc009wcl.2_Missense_Mutation_p.E436G	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	475										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TCTTCAATAGAAAATGGACAT	0.348000												
SYDE2	84144	broad.mit.edu	37	1	85630437	85630437	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:85630437T>A	uc009wcm.2	-	6	2906	c.2857A>T	c.(2857-2859)ACC>TCC	p.T953S		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	953	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATCTTTAGGGTTGCCtaaatt	0.328000												
COL24A1	255631	broad.mit.edu	37	1	86252065	86252065	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:86252065G>A	uc001dlj.2	-	48	4073	c.4031C>T	c.(4030-4032)CCA>CTA	p.P1344L	COL24A1_uc001dli.2_Missense_Mutation_p.P480L|COL24A1_uc010osd.1_Missense_Mutation_p.P644L|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1344	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGCTTCCTGGCAAGCCTGA	0.493000												
LRRC8C	84230	broad.mit.edu	37	1	90179007	90179007	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:90179007G>T	uc001dnl.3	+	3	1120	c.878G>T	c.(877-879)TGT>TTT	p.C293F		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	293						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACAGTGGACTGTAATGTGGAC	0.383000												
COL11A1	1301	broad.mit.edu	37	1	103471441	103471441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:103471441G>A	uc001dul.2	-	18	2116	c.1798C>T	c.(1798-1800)CGA>TGA	p.R600*	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.R612*|COL11A1_uc001dun.2_Nonsense_Mutation_p.R561*|COL11A1_uc009weh.2_Nonsense_Mutation_p.R484*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	600	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCAAACCCTCGATCTCCCTGT	0.318000												
AKNAD1	254268	broad.mit.edu	37	1	109395176	109395176	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:109395176T>G	uc001dwa.2	-	2	380	c.111A>C	c.(109-111)AAA>AAC	p.K37N	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	37										ovary(3)	3						GGCCATCCTTTTTTGAGGTAA	0.393000												
GSTM2	2946	broad.mit.edu	37	1	110211094	110211094	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:110211094C>T	uc001dyi.2	+	2	398	c.84C>T	c.(82-84)TAC>TAT	p.Y28Y	GSTM2_uc001dyj.2_Silent_p.Y28Y|GSTM2_uc010ovt.1_Silent_p.Y28Y|GSTM2_uc009wfk.2_RNA	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1	28	GST N-terminal.				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACTCAAGCTACGAGGAAAAGA	0.587000												
CSDE1	7812	broad.mit.edu	37	1	115268968	115268968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:115268968G>A	uc001efk.2	-	14	1970	c.1504C>T	c.(1504-1506)CAG>TAG	p.Q502*	CSDE1_uc001efi.2_Nonsense_Mutation_p.Q548*|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Nonsense_Mutation_p.Q471*|CSDE1_uc001efm.2_Nonsense_Mutation_p.Q517*|CSDE1_uc009wgv.2_Nonsense_Mutation_p.Q502*|CSDE1_uc001efn.2_Nonsense_Mutation_p.Q471*	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	502	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCAACCTGCTGTCCAGGC	0.398000												
HSD3B2	3284	broad.mit.edu	37	1	119985586	119985586	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:119985586G>A	uc001ehu.2	+	4	535	c.393G>A	c.(391-393)TCG>TCA	p.S131S				P26439	3BHS2_HUMAN	RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	Error:Variant_position_missing_in_P26439_after_alignment					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AGGACGTGTCGGTCGTCATCC	0.517000												
PDE4DIP	9659	broad.mit.edu	37	1	144879446	144879446	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:144879446T>G	uc001elw.3	-	27	4295	c.4004A>C	c.(4003-4005)CAG>CCG	p.Q1335P	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1291P|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q342P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1335					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCCCTAGCTGGTTCTCCAA	0.542000			T	PDGFRB	MPD							
ANKRD35	148741	broad.mit.edu	37	1	145562407	145562407	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:145562407A>G	uc001eob.1	+	10	2203	c.2095A>G	c.(2095-2097)AGC>GGC	p.S699G	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.S542G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	699										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCCCAGAGCAGCGGTCTCCG	0.637000												
FMO5	2330	broad.mit.edu	37	1	146684985	146684985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:146684985C>T	uc001epi.2	-	4	766	c.377G>A	c.(376-378)TGG>TAG	p.W126*	FMO5_uc001eph.3_Nonsense_Mutation_p.W126*|FMO5_uc001epj.2_Nonsense_Mutation_p.W126*|FMO5_uc001epk.3_Nonsense_Mutation_p.W126*	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	126						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GACCACTTCCCATTGGCCTGA	0.473000												
HORMAD1	84072	broad.mit.edu	37	1	150686581	150686581	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:150686581C>T	uc001evk.1	-	5	365	c.259G>A	c.(259-261)GAT>AAT	p.D87N	HORMAD1_uc001evl.1_Missense_Mutation_p.D87N|HORMAD1_uc001evm.1_Missense_Mutation_p.D16N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	87	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAAAGCATCATAACATCCT	0.254000												
MLLT11	10962	broad.mit.edu	37	1	151039727	151039727	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:151039727C>T	uc001ewq.2	+	2	912	c.27C>T	c.(25-27)TAC>TAT	p.Y9Y		NM_006818	NP_006809	Q13015	AF1Q_HUMAN	MLLT11 protein	9					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent						0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTAGCCAGTACAGTTCCTTTC	0.507000												
TCHH	7062	broad.mit.edu	37	1	152085274	152085274	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:152085274T>G	uc001ezp.2	-	2	419	c.419A>C	c.(418-420)AAG>ACG	p.K140T	TCHH_uc009wne.1_Missense_Mutation_p.K140T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	140					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGCCTCTTCTGCCTGCG	0.577000												
FLG2	388698	broad.mit.edu	37	1	152331335	152331335	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:152331335A>G	uc001ezw.3	-	2	99	c.26T>C	c.(25-27)GTC>GCC	p.V9A	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	9	S-100-like (By similarity).|EF-hand 1.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTACGGTGACAACACTTCT	0.403000												
RUSC1	23623	broad.mit.edu	37	1	155297950	155297950	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:155297950T>C	uc001fkj.2	+	9	2653	c.2424T>C	c.(2422-2424)TCT>TCC	p.S808S	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Silent_p.S702S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Silent_p.S339S|RUSC1_uc001fkl.2_Silent_p.S398S|RUSC1_uc001fkp.2_Silent_p.S339S|RUSC1_uc001fkq.2_Silent_p.S233S|RUSC1_uc010pgb.1_Silent_p.S306S|RUSC1_uc009wqp.1_Silent_p.S333S|RUSC1_uc001fkn.2_Silent_p.S117S|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Silent_p.S339S|RUSC1_uc001fks.2_Intron	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	808						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGAGACCATCTAGCTGGCTGC	0.592000												
FCRL4	83417	broad.mit.edu	37	1	157545319	157545319	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:157545319T>C	uc001fqw.2	-	12	1679	c.1543A>G	c.(1543-1545)AGT>GGT	p.S515G	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	515	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTCTTAACTTTCTTCATCC	0.458000												
IFI16	3428	broad.mit.edu	37	1	159021773	159021773	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:159021773G>A	uc001ftg.2	+	9	2092	c.1802G>A	c.(1801-1803)CGA>CAA	p.R601Q	IFI16_uc010pis.1_Missense_Mutation_p.R601Q|IFI16_uc001fth.2_Missense_Mutation_p.R144Q|IFI16_uc010pit.1_Missense_Mutation_p.R200Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	657	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					AATGCTGACCGAAACATGGAG	0.428000												
LY9	4063	broad.mit.edu	37	1	160793331	160793331	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:160793331C>T	uc001fwu.2	+	8	1625	c.1575C>T	c.(1573-1575)GCC>GCT	p.A525A	LY9_uc001fwv.2_Silent_p.A511A|LY9_uc001fww.2_Silent_p.A435A|LY9_uc001fwx.2_Silent_p.A435A|LY9_uc001fwy.1_Silent_p.A323A|LY9_uc001fwz.2_Silent_p.A163A	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	525	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCAGGCCTGCCAGGCAACAGC	0.572000												
LRRC52	440699	broad.mit.edu	37	1	165513858	165513858	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:165513858A>C	uc001gde.2	+	1	381	c.325A>C	c.(325-327)AGC>CGC	p.S109R	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	109	LRR 3.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTTGACCTCAGCTCCAACAA	0.488000												
CD247	919	broad.mit.edu	37	1	167404663	167404663	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:167404663C>T	uc001gei.3	-	5	454	c.309G>A	c.(307-309)AGG>AGA	p.R103R	CD247_uc001gej.3_Silent_p.R102R|CD247_uc001gek.2_Silent_p.R103R	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	103	Cytoplasmic (Potential).|ITAM 2.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			GAGGGTTCTTCCTTCTCTGCT	0.507000												
TBX19	9095	broad.mit.edu	37	1	168262459	168262459	+	Silent	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:168262459A>C	uc001gfl.2	+	3	597	c.546A>C	c.(544-546)ACA>ACC	p.T182T	TBX19_uc001gfj.3_Silent_p.T113T	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	182	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GAATGGTAACAAACTGCTCCT	0.373000												
FMO2	2327	broad.mit.edu	37	1	171168622	171168622	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:171168622G>T	uc001ghk.1	+	5	739	c.622G>T	c.(622-624)GCT>TCT	p.A208S	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	208					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGAATGCTGCTCAGGTGTG	0.502000												
BAT2L2	23215	broad.mit.edu	37	1	171553241	171553241	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:171553241A>G	uc010pmg.1	+	29	7816	c.7550A>G	c.(7549-7551)CAG>CGG	p.Q2517R	BAT2L2_uc010pmh.1_Missense_Mutation_p.Q1429R|BAT2L2_uc010pmi.1_Missense_Mutation_p.Q354R|BAT2L2_uc010pmj.1_Missense_Mutation_p.Q44R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2517	Gln-rich.						protein C-terminus binding				0						TCAAATACTCAGCCCATTCCT	0.473000												
HMCN1	83872	broad.mit.edu	37	1	185932925	185932925	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:185932925T>G	uc001grq.1	+	13	2225	c.1996T>G	c.(1996-1998)TTA>GTA	p.L666V	HMCN1_uc001grr.1_Missense_Mutation_p.L7V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	666	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGATGGTACCTTATTTATCAA	0.333000												
CFHR5	81494	broad.mit.edu	37	1	196964892	196964892	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:196964892A>C	uc001gts.3	+	5	781	c.653A>C	c.(652-654)GAA>GCA	p.E218A		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	218	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						TCCAATGGTGAAGTTAAGGAG	0.323000												
KIF14	9928	broad.mit.edu	37	1	200539132	200539132	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:200539132T>A	uc010ppk.1	-	23	4007	c.3568A>T	c.(3568-3570)AGT>TGT	p.S1190C	KIF14_uc010ppj.1_Missense_Mutation_p.S699C	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1190	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						AAACTCCTACTCCTGAAAAAA	0.299000												
SYT2	127833	broad.mit.edu	37	1	202573584	202573584	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:202573584T>G	uc001gye.2	-	3	537	c.344A>C	c.(343-345)CAG>CCG	p.Q115P	SYT2_uc010pqb.1_Missense_Mutation_p.Q115P|SYT2_uc009xaf.2_Intron	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	115	Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTGCCCTACCTGACCCCCTTT	0.473000												
CAMK1G	57172	broad.mit.edu	37	1	209778918	209778918	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:209778918C>T	uc001hhd.2	+	5	436	c.334C>T	c.(334-336)CGG>TGG	p.R112W	CAMK1G_uc001hhf.3_Missense_Mutation_p.R112W|CAMK1G_uc001hhe.2_Missense_Mutation_p.R112W	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	112	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GATCCTGGAGCGGGGTGTCTA	0.488000												
PPP2R5A	5525	broad.mit.edu	37	1	212515555	212515555	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:212515555T>G	uc001hjb.2	+	4	1080	c.506T>G	c.(505-507)TTT>TGT	p.F169C	PPP2R5A_uc010ptd.1_Missense_Mutation_p.F110C	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	169					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTCTTGAGATTTTTGGAGAGC	0.333000												
CENPF	1063	broad.mit.edu	37	1	214819864	214819864	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:214819864G>T	uc001hkm.2	+	13	7125	c.6951G>T	c.(6949-6951)CAG>CAT	p.Q2317H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2413	2-2.|Interaction with NDE1 and NDEL1.|Potential.|2 X 177 AA tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAAGAAGCAGCTCTGTGTCT	0.453000												
USH2A	7399	broad.mit.edu	37	1	216062370	216062370	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:216062370G>A	uc001hku.1	-	41	8008	c.7621C>T	c.(7621-7623)CTT>TTT	p.L2541F		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2541	Fibronectin type-III 12.|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)		ACATCCAGAAGAATCGGAGGA	0.418000										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216595483	216595483	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:216595483A>C	uc001hku.1	-	2	583	c.196T>G	c.(196-198)TTT>GTT	p.F66V	USH2A_uc001hkv.2_Missense_Mutation_p.F66V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	66	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)		CTGTGACAAAAAGTGCTTCGG	0.498000										HNSCC(13;0.011)		
EPRS	2058	broad.mit.edu	37	1	220156722	220156722	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:220156722T>A	uc001hly.1	-	22	3379	c.3109A>T	c.(3109-3111)ATG>TTG	p.M1037L		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1037	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TATTCAATCATTTCTGACTTT	0.348000												
OBSCN	84033	broad.mit.edu	37	1	228563836	228563836	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:228563836C>T	uc009xez.1	+	99	22958	c.22914C>T	c.(22912-22914)AGC>AGT	p.S7638S	OBSCN_uc001hsr.1_Silent_p.S2267S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7638	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTCCCTACAGCAGCCCCTCGG	0.627000												
LYST	1130	broad.mit.edu	37	1	235894451	235894451	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:235894451T>C	uc001hxj.2	-	35	9003	c.8828A>G	c.(8827-8829)TAT>TGT	p.Y2943C	LYST_uc001hxi.2_Missense_Mutation_p.Y167C	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2943					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGGTTGGATAGTAGATGGG	0.383000									Chediak-Higashi_syndrome			
CEP170	9859	broad.mit.edu	37	1	243349125	243349125	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:243349125T>C	uc001hzs.2	-	10	1930	c.1522A>G	c.(1522-1524)AAT>GAT	p.N508D	CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	508						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGTTGGGATTCTCTAACTCA	0.348000												
OR2M7	391196	broad.mit.edu	37	1	248487439	248487439	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:248487439C>T	uc010pzk.1	-	1	432	c.432G>A	c.(430-432)ATG>ATA	p.M144I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGGCAGTCATAAGTCCAC	0.463000												
SUV39H2	79723	broad.mit.edu	37	10	14941679	14941679	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:14941679C>T	uc001inh.2	+	3	867	c.811C>T	c.(811-813)CAC>TAC	p.H271Y	SUV39H2_uc001ing.2_Missense_Mutation_p.H151Y|SUV39H2_uc001ini.2_Missense_Mutation_p.H271Y|SUV39H2_uc001inj.2_Missense_Mutation_p.H271Y|DCLRE1C_uc010qbx.1_Intron	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	331	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3						TTTTGTGAATCACAGCGTAAG	0.383000												
PLXDC2	84898	broad.mit.edu	37	10	20466336	20466336	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:20466336A>G	uc001iqg.1	+	9	1696	c.1059A>G	c.(1057-1059)CAA>CAG	p.Q353Q	PLXDC2_uc001iqh.1_Silent_p.Q304Q|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	353	Extracellular (Potential).|PSI.					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GTAAACTTCAAAGGtaaaaat	0.244000												
ARMC3	219681	broad.mit.edu	37	10	23250949	23250949	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:23250949G>A	uc001irm.3	+	7	757	c.674G>A	c.(673-675)CGA>CAA	p.R225Q	ARMC3_uc010qcv.1_Missense_Mutation_p.R225Q|ARMC3_uc010qcw.1_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	225	ARM 6.						binding				0						AAGGAGTCTCGAACAATGCTA	0.368000												
NRP1	8829	broad.mit.edu	37	10	33619745	33619745	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:33619745A>T	uc001iwx.3	-	2	662	c.139T>A	c.(139-141)TCT>ACT	p.S47T	NRP1_uc001iwv.3_Missense_Mutation_p.S47T|NRP1_uc009xlz.2_Missense_Mutation_p.S47T|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.S47T|NRP1_uc001iwz.2_Missense_Mutation_p.S47T|NRP1_uc001ixa.2_Missense_Mutation_p.S47T|NRP1_uc001ixb.1_Missense_Mutation_p.S47T|NRP1_uc001ixc.1_Missense_Mutation_p.S47T	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	47	CUB 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GGGTGATAAGAATGAGGATAA	0.418000												
ALOX5	240	broad.mit.edu	37	10	45878028	45878028	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:45878028T>C	uc001jce.2	+	2	347	c.248T>C	c.(247-249)CTG>CCG	p.L83P	ALOX5_uc009xmt.2_Missense_Mutation_p.L83P|ALOX5_uc010qfg.1_Missense_Mutation_p.L83P	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	83	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GACTGGTACCTGAAGTACATC	0.577000												
DKK1	22943	broad.mit.edu	37	10	54076318	54076318	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:54076318A>C	uc001jjr.2	+	4	706	c.552A>C	c.(550-552)CAA>CAC	p.Q184H	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	184					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TCGTAGGACAAGAAGGTTCTG	0.413000												
PCDH15	65217	broad.mit.edu	37	10	55973714	55973714	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:55973714T>G	uc001jju.1	-	10	1475	c.1080A>C	c.(1078-1080)AAA>AAC	p.K360N	PCDH15_uc010qhq.1_Missense_Mutation_p.K365N|PCDH15_uc010qhr.1_Missense_Mutation_p.K360N|PCDH15_uc010qhs.1_Missense_Mutation_p.K365N|PCDH15_uc010qht.1_Missense_Mutation_p.K360N|PCDH15_uc010qhu.1_Missense_Mutation_p.K360N|PCDH15_uc001jjv.1_Missense_Mutation_p.K338N|PCDH15_uc010qhv.1_Missense_Mutation_p.K360N|PCDH15_uc010qhw.1_Missense_Mutation_p.K323N|PCDH15_uc010qhx.1_Missense_Mutation_p.K360N|PCDH15_uc010qhy.1_Missense_Mutation_p.K365N|PCDH15_uc010qhz.1_Missense_Mutation_p.K360N|PCDH15_uc010qia.1_Missense_Mutation_p.K338N|PCDH15_uc010qib.1_Missense_Mutation_p.K338N|PCDH15_uc001jjw.2_Missense_Mutation_p.K360N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	360	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAAATCAAATTTCTGGTGAA	0.383000										HNSCC(58;0.16)		
REEP3	221035	broad.mit.edu	37	10	65359005	65359005	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:65359005A>T	uc001jmt.2	+	5	562	c.379A>T	c.(379-381)AAC>TAC	p.N127Y	REEP3_uc009xpl.1_Missense_Mutation_p.N127Y	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	127						integral to membrane					0	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCAAGGTTTAAACCTTGCAGC	0.388000												
TET1	80312	broad.mit.edu	37	10	70406713	70406713	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:70406713C>T	uc001jok.3	+	4	4732	c.4227C>T	c.(4225-4227)AAC>AAT	p.N1409N		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1409					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CTACAAAAAACCTAGTGTCTA	0.383000												
MYST4	23522	broad.mit.edu	37	10	76735809	76735809	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:76735809C>T	uc001jwn.1	+	8	2207	c.1714C>T	c.(1714-1716)CGT>TGT	p.R572C	MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	572	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					CAAACGTATGCGTCGTAAAAC	0.453000			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78799339	78799339	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:78799339G>A	uc001jxn.2	-	15	1983	c.1806C>T	c.(1804-1806)TAC>TAT	p.Y602Y	KCNMA1_uc001jxj.2_Silent_p.Y602Y|KCNMA1_uc001jxk.1_Silent_p.Y217Y|KCNMA1_uc009xrt.1_Silent_p.Y422Y|KCNMA1_uc001jxl.1_Silent_p.Y256Y|KCNMA1_uc001jxo.2_Silent_p.Y602Y|KCNMA1_uc001jxm.2_Silent_p.Y602Y|KCNMA1_uc001jxq.2_Silent_p.Y602Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	602	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATATTCTGTGTACATTTCAT	0.423000												
WAPAL	23063	broad.mit.edu	37	10	88277753	88277753	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:88277753G>A	uc001kdo.2	-	2	516	c.74C>T	c.(73-75)TCC>TTC	p.S25F	WAPAL_uc001kdn.2_Missense_Mutation_p.S68F|WAPAL_uc009xsw.2_Missense_Mutation_p.S25F|WAPAL_uc010qmh.1_Missense_Mutation_p.S25F|WAPAL_uc010qmi.1_Missense_Mutation_p.S62F|WAPAL_uc010qmj.1_Missense_Mutation_p.S25F	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	25	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						CCGTTTGTTGGAAAAGACTTC	0.398000												
ANKRD1	27063	broad.mit.edu	37	10	92678659	92678659	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:92678659A>T	uc001khe.1	-	4	664	c.416T>A	c.(415-417)TTC>TAC	p.F139Y		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	139					cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				GTCTGACAAGAATTTTTCTAC	0.358000												
HECTD2	143279	broad.mit.edu	37	10	93221110	93221110	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:93221110T>G	uc001khl.2	+	4	607	c.507T>G	c.(505-507)TTT>TTG	p.F169L	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.F169L|HECTD2_uc010qnm.1_Missense_Mutation_p.F169L|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	169					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						ATGCTGCATTTAAGGTAATTA	0.274000												
SORBS1	10580	broad.mit.edu	37	10	97158896	97158896	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:97158896C>T	uc001kkp.2	-	10	1081	c.1036G>A	c.(1036-1038)GAA>AAA	p.E346K	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.E179K|SORBS1_uc001kkm.2_Missense_Mutation_p.E202K|SORBS1_uc001kko.2_Missense_Mutation_p.E346K|SORBS1_uc001kkq.2_Missense_Mutation_p.E277K|SORBS1_uc001kkr.2_Missense_Mutation_p.E182K|SORBS1_uc001kks.2_Missense_Mutation_p.E182K|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.E223K|SORBS1_uc001kkv.2_Missense_Mutation_p.E314K|SORBS1_uc001kkw.2_Missense_Mutation_p.E346K|SORBS1_uc010qoe.1_Missense_Mutation_p.E191K|SORBS1_uc010qof.1_Missense_Mutation_p.E544K	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	346					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTGGGTTTTTCCTGGGTTGGT	0.473000												
ZNF518A	9849	broad.mit.edu	37	10	97918544	97918544	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:97918544G>A	uc001klp.2	+	6	3322	c.2465G>A	c.(2464-2466)AGA>AAA	p.R822K	ZNF518A_uc001klo.1_Missense_Mutation_p.R292K|ZNF518A_uc001klq.2_Missense_Mutation_p.R822K|ZNF518A_uc001klr.2_Missense_Mutation_p.R822K	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAACACGAGAGAGAAGGCAAA	0.383000												
C10orf79	80217	broad.mit.edu	37	10	105923947	105923947	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:105923947T>G	uc001kxw.2	-	24	3267	c.3151A>C	c.(3151-3153)ATT>CTT	p.I1051L	C10orf79_uc009xxq.2_Missense_Mutation_p.I359L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1051											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TCTAAAATAATTTCTCGAATT	0.383000												
C10orf79	80217	broad.mit.edu	37	10	105927437	105927437	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:105927437T>C	uc001kxw.2	-	22	2866	c.2750A>G	c.(2749-2751)GAG>GGG	p.E917G	C10orf79_uc009xxq.2_Missense_Mutation_p.E225G|C10orf79_uc001kxx.3_Missense_Mutation_p.E918G	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	917	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTCTTTCAGCTCTTCAACCGT	0.358000												
PNLIPRP2	5408	broad.mit.edu	37	10	118394392	118394392	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:118394392C>T	uc001lcq.2	+	11	884	c.861C>T	c.(859-861)TTC>TTT	p.F287F	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	286					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		TAAGAAGCTTCGAGTATTACT	0.493000												
SFXN4	119559	broad.mit.edu	37	10	120917394	120917394	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:120917394T>G	uc001leb.2	-	8	505	c.460A>C	c.(460-462)AAC>CAC	p.N154H	SFXN4_uc001ldy.2_Missense_Mutation_p.N38H|SFXN4_uc001ldz.2_Missense_Mutation_p.N38H|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	154					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAACTTCTGTTTCCATTGATG	0.403000												
SEC23IP	11196	broad.mit.edu	37	10	121677497	121677497	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:121677497T>A	uc001leu.1	+	9	1766	c.1694T>A	c.(1693-1695)CTC>CAC	p.L565H	SEC23IP_uc010qtc.1_Missense_Mutation_p.L354H|SEC23IP_uc009xzk.1_5'Flank	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	565					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCATGCACTCTTTATGAGT	0.363000												
GPR123	84435	broad.mit.edu	37	10	134942949	134942949	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:134942949G>A	uc001llx.3	+	7	2053	c.1617G>A	c.(1615-1617)CTG>CTA	p.L539L	GPR123_uc001llw.2_Silent_p.L1258L	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	539	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TAGAAGGCCTGCCGTTTGGCA	0.622000												
TH	7054	broad.mit.edu	37	11	2186587	2186587	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:2186587C>T	uc001lvq.2	-	13	1321	c.1302G>A	c.(1300-1302)CTG>CTA	p.L434L	TH_uc001lvp.2_Silent_p.L430L|TH_uc001lvr.2_Silent_p.L403L|TH_uc010qxj.1_Silent_p.L407L|TH_uc001lvs.2_Silent_p.L309L|TH_uc001lvt.2_Silent_p.L313L	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	434					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCTCAGACAGGCAGTGCT	0.632000												
UBQLN3	50613	broad.mit.edu	37	11	5529962	5529962	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:5529962T>G	uc001may.1	-	2	913	c.827A>C	c.(826-828)AAT>ACT	p.N276T	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	276										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAAAGGGATTGCCGCCAAA	0.512000												
ST5	6764	broad.mit.edu	37	11	8715660	8715660	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:8715660G>A	uc001mgt.2	-	20	3583	c.3397C>T	c.(3397-3399)CTC>TTC	p.L1133F	ST5_uc009yfr.2_Missense_Mutation_p.L713F|ST5_uc001mgu.2_Missense_Mutation_p.L713F|ST5_uc001mgv.2_Missense_Mutation_p.L1133F|ST5_uc010rbp.1_Missense_Mutation_p.L646F	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	1133					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCTTGTGGAGAAACTTCATT	0.547000												
DENND5A	23258	broad.mit.edu	37	11	9165810	9165810	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:9165810C>T	uc001mhl.2	-	19	3393	c.3138G>A	c.(3136-3138)CGG>CGA	p.R1046R	DENND5A_uc001mhk.2_Silent_p.R389R|DENND5A_uc010rbw.1_Silent_p.R1046R	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1046	PLAT.									liver(1)	1						TCCCTAACCACCGGCCACACG	0.592000												
DENND5A	23258	broad.mit.edu	37	11	9182384	9182384	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:9182384C>T	uc001mhl.2	-	12	2567	c.2312G>A	c.(2311-2313)GGC>GAC	p.G771D	DENND5A_uc001mhk.2_Missense_Mutation_p.G114D|DENND5A_uc010rbw.1_Missense_Mutation_p.G771D|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	771										liver(1)	1						AGCTTCTCGGCCCATCTTTTC	0.512000												
USH1C	10083	broad.mit.edu	37	11	17546043	17546043	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:17546043G>A	uc001mnf.2	-	9	823	c.714C>T	c.(712-714)ATC>ATT	p.I238I	USH1C_uc001mne.2_Silent_p.I238I|USH1C_uc009yhb.2_Silent_p.I238I|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.I202I	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	238	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						TCACATGGCTGATAAAGATGC	0.592000												
MRGPRX3	117195	broad.mit.edu	37	11	18158908	18158908	+	Silent	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:18158908C>A	uc001mnu.2	+	3	520	c.159C>A	c.(157-159)GGC>GGA	p.G53G		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	53	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						GGCTCCTGGGCTGCCGCATGC	0.592000												
NAV2	89797	broad.mit.edu	37	11	20077454	20077454	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:20077454G>A	uc010rdm.1	+	20	5212	c.4851G>A	c.(4849-4851)AAG>AAA	p.K1617K	NAV2_uc001mpp.2_Silent_p.K1530K|NAV2_uc001mpr.3_Silent_p.K1594K|NAV2_uc001mpt.2_Silent_p.K643K|NAV2_uc009yhx.2_Silent_p.K658K|NAV2_uc009yhy.1_Silent_p.K556K|NAV2_uc009yhz.2_Silent_p.K239K|NAV2_uc001mpu.2_Silent_p.K32K	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1617	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGGATGAGAAGAGCAGAACCA	0.433000												
SLC17A6	57084	broad.mit.edu	37	11	22399195	22399195	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:22399195G>A	uc001mqk.2	+	12	2071	c.1658G>A	c.(1657-1659)GGT>GAT	p.G553D		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	553	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GCCAATGGAGGTTGGCCTAGT	0.388000												
KCNA4	3739	broad.mit.edu	37	11	30032683	30032683	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:30032683A>T	uc001msk.2	-	2	2695	c.1543T>A	c.(1543-1545)TTT>ATT	p.F515I		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	515						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCCACCAAAATGCATCTGGG	0.517000												
PTPRJ	5795	broad.mit.edu	37	11	48145248	48145248	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:48145248G>A	uc001ngp.3	+	5	1055	c.700G>A	c.(700-702)GCC>ACC	p.A234T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A234T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	234	Extracellular (Potential).|Fibronectin type-III 2.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CAATGGCACTGCCTCCTGCCG	0.512000												
OR4C12	283093	broad.mit.edu	37	11	50003318	50003318	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:50003318A>G	uc010ria.1	-	1	720	c.720T>C	c.(718-720)TCT>TCC	p.S240S		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CTATGATGTGAGAAATACAGG	0.398000												
OR4S2	219431	broad.mit.edu	37	11	55418466	55418466	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:55418466T>G	uc001nhs.1	+	1	87	c.87T>G	c.(85-87)TTT>TTG	p.F29L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TTGTGGTGTTTTCTTTCTTCT	0.388000												
OR8H3	390152	broad.mit.edu	37	11	55890633	55890633	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:55890633C>T	uc001nii.1	+	1	785	c.785C>T	c.(784-786)CCA>CTA	p.P262L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TACTTAAAGCCAAGAAAGTCT	0.383000												
OR8H1	219469	broad.mit.edu	37	11	56058388	56058388	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:56058388G>A	uc010rje.1	-	1	151	c.151C>T	c.(151-153)CTG>TTG	p.L51L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TGGAGGTCCAGGCGGATTATC	0.418000												
OR5M9	390162	broad.mit.edu	37	11	56230020	56230020	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:56230020C>A	uc010rjj.1	-	1	858	c.858G>T	c.(856-858)ATG>ATT	p.M286I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.423000												
OR5M1	390168	broad.mit.edu	37	11	56380316	56380316	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:56380316A>C	uc001nja.1	-	1	663	c.663T>G	c.(661-663)ATT>ATG	p.I221M		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TCGCTGCAAAAATGAAAAGAT	0.448000												
FAM111B	374393	broad.mit.edu	37	11	58893717	58893717	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:58893717A>G	uc001nnl.2	+	4	2390	c.2147A>G	c.(2146-2148)GAG>GGG	p.E716G	FAM111B_uc001nnm.2_Missense_Mutation_p.E686G|FAM111B_uc010rko.1_Missense_Mutation_p.E686G	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	716							catalytic activity			ovary(2)	2						TACGATGAAGAGAAAGGTAAA	0.318000												
MS4A12	54860	broad.mit.edu	37	11	60274594	60274594	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:60274594A>G	uc001npr.2	+	7	858	c.801A>G	c.(799-801)AAA>AAG	p.K267K		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	267	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ATGCCCCTAAATAGTAAAAGA	0.383000												
CDC42BPG	55561	broad.mit.edu	37	11	64606691	64606691	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:64606691C>T	uc001obs.3	-	7	690	c.690G>A	c.(688-690)GTG>GTA	p.V230V		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	230	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TCCCTACTGCCACTGATGAAT	0.622000												
OR2AT4	341152	broad.mit.edu	37	11	74800405	74800405	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:74800405G>A	uc010rro.1	-	1	354	c.354C>T	c.(352-354)TTC>TTT	p.F118F		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCACCAGGATGAAGGCTTCTG	0.507000												
C11orf30	56946	broad.mit.edu	37	11	76239322	76239322	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:76239322A>C	uc001oxl.2	+	14	2149	c.2006A>C	c.(2005-2007)AAA>ACA	p.K669T	C11orf30_uc001oxm.2_Missense_Mutation_p.K585T|C11orf30_uc010rsb.1_Missense_Mutation_p.K684T|C11orf30_uc010rsc.1_Missense_Mutation_p.K684T|C11orf30_uc001oxn.2_Missense_Mutation_p.K670T|C11orf30_uc010rsd.1_Missense_Mutation_p.K683T|C11orf30_uc001oxo.1_Missense_Mutation_p.K37T|C11orf30_uc010rse.1_Missense_Mutation_p.K37T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	669					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GTTCTTATTAAACCCAAACCA	0.353000												
C11orf30	56946	broad.mit.edu	37	11	76248947	76248947	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:76248947C>T	uc001oxl.2	+	16	2611	c.2468C>T	c.(2467-2469)TCA>TTA	p.S823L	C11orf30_uc001oxm.2_Missense_Mutation_p.S739L|C11orf30_uc010rsb.1_Missense_Mutation_p.S838L|C11orf30_uc010rsc.1_Missense_Mutation_p.S838L|C11orf30_uc001oxn.2_Missense_Mutation_p.S824L|C11orf30_uc010rsd.1_Intron|C11orf30_uc001oxo.1_Missense_Mutation_p.S191L|C11orf30_uc010rse.1_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	823					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GAGAGTCCATCAATTGCTGTG	0.418000												
DLG2	1740	broad.mit.edu	37	11	83770425	83770425	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:83770425C>T	uc001paj.2	-	6	840	c.537G>A	c.(535-537)CTG>CTA	p.L179L	DLG2_uc001pai.2_Silent_p.L128L|DLG2_uc010rsy.1_Silent_p.L146L|DLG2_uc010rsz.1_Silent_p.L179L|DLG2_uc010rta.1_Silent_p.L179L|DLG2_uc001pak.2_Silent_p.L284L|DLG2_uc010rtb.1_Silent_p.L146L|DLG2_uc001pal.1_Silent_p.L179L|DLG2_uc001pam.1_Silent_p.L218L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	179	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACGCACATACAGCCGAACGA	0.448000												
GRM5	2915	broad.mit.edu	37	11	88301037	88301037	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:88301037C>T	uc001pcq.2	-	7	2014	c.1814G>A	c.(1813-1815)CGT>CAT	p.R605H	GRM5_uc009yvm.2_Missense_Mutation_p.R605H	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	605	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGGTGTATCACGGTAAATGAT	0.507000												
GRM5	2915	broad.mit.edu	37	11	88338027	88338027	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:88338027A>G	uc001pcq.2	-	4	1453	c.1253T>C	c.(1252-1254)CTC>CCC	p.L418P	GRM5_uc009yvm.2_Missense_Mutation_p.L418P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	418	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCCTGGGCAGAGGGACATCTG	0.468000												
DYNC2H1	79659	broad.mit.edu	37	11	103104860	103104860	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:103104860G>T	uc001pho.2	+	61	9682	c.9538G>T	c.(9538-9540)GAC>TAC	p.D3180Y	DYNC2H1_uc001phn.1_Missense_Mutation_p.D3180Y|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3180	Potential.				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAATCAGCTTGACAGAGAACA	0.403000												
ESAM	90952	broad.mit.edu	37	11	124626210	124626210	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:124626210C>T	uc001qav.3	-	4	673	c.500G>A	c.(499-501)GGG>GAG	p.G167E	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.G94E|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G167E	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	167	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACGTTTGCCCCCACATGGGG	0.587000												
WNK1	65125	broad.mit.edu	37	12	992681	992681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:992681C>T	uc001qio.3	+	16	4117	c.3610C>T	c.(3610-3612)CAG>TAG	p.Q1204*	WNK1_uc001qip.3_Nonsense_Mutation_p.Q957*|WNK1_uc001qir.3_Nonsense_Mutation_p.Q377*	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1204					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGAGGGTGATCAGGGATTGGA	0.413000												
KCNA1	3736	broad.mit.edu	37	12	5020811	5020811	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:5020811C>T	uc001qnh.2	+	2	1372	c.267C>T	c.(265-267)TTC>TTT	p.F89F		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	89					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCAGCTTCGACGCCATCC	0.607000												
CD163L1	283316	broad.mit.edu	37	12	7556290	7556290	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:7556290A>G	uc001qsy.2	-	6	1275	c.1249T>C	c.(1249-1251)TTT>CTT	p.F417L	CD163L1_uc010sge.1_Missense_Mutation_p.F427L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	417	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CGACTGCCAAAGACGCTGAAC	0.458000												
LOH12CR1	118426	broad.mit.edu	37	12	12514147	12514147	+	Silent	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:12514147T>G	uc001ral.2	+	2	432	c.66T>G	c.(64-66)CCT>CCG	p.P22P	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	22										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGTGACTCCTTCACCAGCCA	0.443000												
GRIN2B	2904	broad.mit.edu	37	12	13716421	13716421	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:13716421G>A	uc001rbt.2	-	13	3930	c.3751C>T	c.(3751-3753)CTG>TTG	p.L1251L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1251	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTCATACAGGTTGCCTGCT	0.602000												
GRIN2B	2904	broad.mit.edu	37	12	13768468	13768468	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:13768468C>A	uc001rbt.2	-	6	1638	c.1459G>T	c.(1459-1461)GGG>TGG	p.G487W		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	487	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTTTCTTCCCATGCTTGCCA	0.383000												
LST-3TM12	338821	broad.mit.edu	37	12	21172216	21172216	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:21172216T>A	uc010sin.1	+	2	120	c.120T>A	c.(118-120)TTT>TTA	p.F40L	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	40						membrane	transporter activity				0						TAAGTTACTTTGGATCTAAAC	0.323000												
LRRK2	120892	broad.mit.edu	37	12	40687444	40687445	+	Nonsense_Mutation	DNP	GC	GC	CT	rs72547970		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:40687444_40687445GC>CT	uc001rmg.3	+	21	2908_2909	c.2787_2788GC>CT	c.(2785-2790)TTGCAA>TTCTAA	p.929_930LQ>F*	LRRK2_uc001rmh.1_Nonsense_Mutation_p.551_552LQ>F*|LRRK2_uc009zjw.2_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	929_930			Q -> R (in PARK8; could be a poymorphism).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACCAAATTTGCAAAGACATTC	0.347000												
NELL2	4753	broad.mit.edu	37	12	44915892	44915892	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:44915892C>T	uc001rog.2	-	18	2661	c.2066G>A	c.(2065-2067)TGC>TAC	p.C689Y	NELL2_uc001rof.3_Missense_Mutation_p.C688Y|NELL2_uc001roh.2_Missense_Mutation_p.C689Y|NELL2_uc009zkd.2_Missense_Mutation_p.C641Y|NELL2_uc010skz.1_Missense_Mutation_p.C739Y|NELL2_uc010sla.1_Missense_Mutation_p.C712Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	689	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATTCAGGGCAGCAAAAAAG	0.433000												
KRT6A	3853	broad.mit.edu	37	12	52885418	52885418	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:52885418C>G	uc001sam.2	-	2	852	c.643G>C	c.(643-645)GAG>CAG	p.E215Q		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	215	Rod.|Linker 1.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGTACTGCTCGAACAACGGC	0.597000												
OR6C74	254783	broad.mit.edu	37	12	55641464	55641464	+	Silent	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:55641464C>A	uc010spg.1	+	1	393	c.393C>A	c.(391-393)ACC>ACA	p.T131T		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGCATTACACCACCATCATGA	0.488000												
GLS2	27165	broad.mit.edu	37	12	56867316	56867316	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:56867316C>T	uc001slj.2	-	13	1566	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.M164I|GLS2_uc009zot.2_Missense_Mutation_p.M90I	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	429					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACATCATTCCCATGACATTGG	0.532000												
GLIPR1L2	144321	broad.mit.edu	37	12	75816696	75816696	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:75816696G>A	uc001sxr.1	+	4	605	c.597G>A	c.(595-597)ACG>ACA	p.T199T	GLIPR1L2_uc001sxp.1_Silent_p.T199T|GLIPR1L2_uc001sxq.1_Silent_p.T92T	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	199						integral to membrane				ovary(1)	1						GAACACTGACGAGAAGACCTT	0.294000												
MYBPC1	4604	broad.mit.edu	37	12	102038445	102038445	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:102038445T>C	uc001tii.2	+	10	863	c.761T>C	c.(760-762)TTT>TCT	p.F254S	MYBPC1_uc001tif.1_Missense_Mutation_p.F267S|MYBPC1_uc001tig.2_Missense_Mutation_p.F279S|MYBPC1_uc010svq.1_Missense_Mutation_p.F241S|MYBPC1_uc001tih.2_Missense_Mutation_p.F279S|MYBPC1_uc001tij.2_Missense_Mutation_p.F254S|MYBPC1_uc010svr.1_Missense_Mutation_p.F254S|MYBPC1_uc010svs.1_Missense_Mutation_p.F254S|MYBPC1_uc010svt.1_Missense_Mutation_p.F242S|MYBPC1_uc010svu.1_Missense_Mutation_p.F235S|MYBPC1_uc001tik.2_Missense_Mutation_p.F228S	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	254	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CTATCAGCTTTTGCAAAAATT	0.348000												
ASCL1	429	broad.mit.edu	37	12	103352558	103352558	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:103352558C>G	uc001tjr.3	+	1	1107	c.536C>G	c.(535-537)GCG>GGG	p.A179G		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	179					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						GAGCATGACGCGGTGAGCGCC	0.647000												
KIAA1033	23325	broad.mit.edu	37	12	105538520	105538520	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:105538520A>G	uc001tld.2	+	22	2291	c.2204A>G	c.(2203-2205)AAG>AGG	p.K735R	KIAA1033_uc010swr.1_Missense_Mutation_p.K736R|KIAA1033_uc010sws.1_Missense_Mutation_p.K547R	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	735					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						TACCTAGACAAGACTTTCTAC	0.363000												
TAOK3	51347	broad.mit.edu	37	12	118693289	118693289	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:118693289A>C	uc001twx.2	-	3	379	c.84T>G	c.(82-84)CAT>CAG	p.H28Q	TAOK3_uc001twy.3_Missense_Mutation_p.H28Q	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	28	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCAATTTCATGCAAACCAA	0.373000												
TMEM132D	121256	broad.mit.edu	37	12	129558617	129558617	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:129558617G>A	uc009zyl.1	-	9	3431	c.3103C>T	c.(3103-3105)CCA>TCA	p.P1035S	TMEM132D_uc001uia.2_Missense_Mutation_p.P573S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1035	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGGATGTTGGGGGCTCACTT	0.483000												
PIWIL1	9271	broad.mit.edu	37	12	130845758	130845758	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:130845758A>G	uc001uik.2	+	15	1789	c.1699A>G	c.(1699-1701)AAA>GAA	p.K567E	PIWIL1_uc001uij.1_Missense_Mutation_p.K567E	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	567	RNA-binding (By similarity).|Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGGAAGGACAAATACGATGC	0.443000												
SFRS8	6433	broad.mit.edu	37	12	132237891	132237891	+	Silent	SNP	C	C	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:132237891C>G	uc001uja.1	+	8	1445	c.1305C>G	c.(1303-1305)TCC>TCG	p.S435S	SFRS8_uc010tbn.1_Silent_p.S435S|SFRS8_uc001ujb.1_Silent_p.S228S|SFRS8_uc001uiz.1_Silent_p.S309S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	435	Poly-Thr.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GGGCCACCTCCACAACCACCA	0.647000												
SACS	26278	broad.mit.edu	37	13	23908827	23908827	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:23908827A>G	uc001uon.2	-	10	9777	c.9188T>C	c.(9187-9189)TTA>TCA	p.L3063S	SACS_uc001uoo.2_Missense_Mutation_p.L2916S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3063					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACCAATTTCTAAAAGGAGATG	0.353000												
CENPJ	55835	broad.mit.edu	37	13	25457496	25457496	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:25457496T>G	uc001upt.3	-	17	4089	c.3836A>C	c.(3835-3837)AAA>ACA	p.K1279T	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1279					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTATGAGTTTGTTGCCATC	0.303000												
PAN3	255967	broad.mit.edu	37	13	28752031	28752031	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:28752031T>G	uc001urz.2	+	3	219	c.211T>G	c.(211-213)TTT>GTT	p.F71V	PAN3_uc010tdo.1_Missense_Mutation_p.F217V|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.F71V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	217	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCATCCTTGTTTAATGACTT	0.363000												
PAN3	255967	broad.mit.edu	37	13	28862253	28862253	+	Silent	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:28862253T>A	uc001urz.2	+	17	2087	c.2079T>A	c.(2077-2079)CTT>CTA	p.L693L	PAN3_uc001ury.2_Silent_p.L527L|PAN3_uc001urx.2_Silent_p.L639L	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	839	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTCTTGTCTTAACAAGGTAA	0.338000												
POSTN	10631	broad.mit.edu	37	13	38154095	38154095	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:38154095C>T	uc001uwo.3	-	12	1681	c.1563G>A	c.(1561-1563)TTG>TTA	p.L521L	POSTN_uc010tet.1_Silent_p.L49L|POSTN_uc001uwp.3_Silent_p.L521L|POSTN_uc001uwr.2_Silent_p.L521L|POSTN_uc001uwq.2_Silent_p.L521L|POSTN_uc010teu.1_Silent_p.L521L|POSTN_uc010tev.1_Silent_p.L521L|POSTN_uc010tew.1_Silent_p.L521L|POSTN_uc010tex.1_Silent_p.L436L	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	521	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGAGCTCTTTCAAGTCTGCAG	0.398000												
KCTD4	386618	broad.mit.edu	37	13	45768205	45768205	+	Silent	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:45768205T>G	uc001uzx.3	-	2	902	c.498A>C	c.(496-498)TCA>TCC	p.S166S	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		ACTTTATTTTTGATATGAAAT	0.368000												
COG3	83548	broad.mit.edu	37	13	46056546	46056546	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:46056546A>G	uc001vak.2	+	6	756	c.655A>G	c.(655-657)AGT>GGT	p.S219G	COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.S219G|COG3_uc001vaj.1_Missense_Mutation_p.S219G|COG3_uc010tfv.1_Missense_Mutation_p.S56G|COG3_uc010aci.2_Translation_Start_Site	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	219					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GTCGGTGAATAGTGACGGATT	0.299000												
SPERT	220082	broad.mit.edu	37	13	46287419	46287419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:46287419C>T	uc001van.1	+	3	339	c.259C>T	c.(259-261)CAG>TAG	p.Q87*	SPERT_uc001vao.2_Nonsense_Mutation_p.Q51*	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	87						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GATGGCGAGCCAGCACTCCTA	0.682000												
INTS6	26512	broad.mit.edu	37	13	51939913	51939913	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:51939913T>C	uc001vfk.2	-	18	3253	c.2639A>G	c.(2638-2640)CAG>CGG	p.Q880R	INTS6_uc001vfi.2_Missense_Mutation_p.Q564R|INTS6_uc001vfj.2_Missense_Mutation_p.Q867R|INTS6_uc001vfl.2_Missense_Mutation_p.Q702R	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	880					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATGGTTGATCTGATTGGCTCT	0.299000												
PCDH17	27253	broad.mit.edu	37	13	58207479	58207479	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:58207479G>A	uc001vhq.1	+	1	1691	c.799G>A	c.(799-801)GCC>ACC	p.A267T	PCDH17_uc010aec.1_Missense_Mutation_p.A267T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	267	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGATCTGAACGCCACCGACGC	0.592000												
PCDH20	64881	broad.mit.edu	37	13	61985441	61985441	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:61985441G>A	uc001vid.3	-	2	3155	c.2791C>T	c.(2791-2793)CCA>TCA	p.P931S	PCDH20_uc010thj.1_Missense_Mutation_p.P931S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	904	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCTTTCAGTGGAATCTGTACT	0.383000												
KLHL1	57626	broad.mit.edu	37	13	70370969	70370969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:70370969G>A	uc001vip.2	-	7	2334	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	KLHL1_uc010thm.1_Nonsense_Mutation_p.R453*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	514	Kelch 2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGCCATCTCGACCTCCAATT	0.438000												
C13orf37	440145	broad.mit.edu	37	13	73293091	73293091	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:73293091T>G	uc001viu.2	-	2	422	c.224A>C	c.(223-225)AAG>ACG	p.K75T		NM_001071775	NP_001065243	Q08AG7	MZT1_HUMAN	hypothetical protein LOC440145	75					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding				0						ATCTCCAACCTTCAGTGCTTC	0.353000												
MYCBP2	23077	broad.mit.edu	37	13	77745688	77745688	+	Silent	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:77745688A>T	uc001vkf.2	-	39	5710	c.5619T>A	c.(5617-5619)TCT>TCA	p.S1873S	MYCBP2_uc010aev.2_Silent_p.S1277S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCTTACAACAGACAATGCTC	0.398000												
DZIP1	22873	broad.mit.edu	37	13	96285518	96285518	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:96285518G>A	uc001vmk.2	-	6	1507	c.655C>T	c.(655-657)CGC>TGC	p.R219C	DZIP1_uc001vml.2_Missense_Mutation_p.R219C|DZIP1_uc001vmn.2_Missense_Mutation_p.R208C	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	219	C2H2-type.				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTGGCGGCGTTGAATGTGA	0.408000												
GPR183	1880	broad.mit.edu	37	13	99948218	99948218	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:99948218T>A	uc001vog.2	-	2	356	c.182A>T	c.(181-183)AAA>ATA	p.K61I	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	NM_004951	NP_004942	P32249	GP183_HUMAN	EBV-induced G protein-coupled receptor 2	61	Cytoplasmic (Potential).				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0						GTTGATTTTTTTCCTGTTTTG	0.438000												
FGF14	2259	broad.mit.edu	37	13	102379009	102379009	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:102379009A>C	uc001vpe.2	-	4	560	c.560T>G	c.(559-561)GTA>GGA	p.V187G	FGF14_uc001vpf.2_Missense_Mutation_p.V192G	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	187					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTTTTCTTTACTCTGTTCCC	0.358000												
ARHGEF7	8874	broad.mit.edu	37	13	111933004	111933004	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:111933004C>T	uc001vrs.2	+	16	2018	c.1768C>T	c.(1768-1770)CAT>TAT	p.H590Y	ARHGEF7_uc001vrr.2_Missense_Mutation_p.H569Y|ARHGEF7_uc001vrt.2_Missense_Mutation_p.H540Y|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.H412Y|ARHGEF7_uc001vrv.3_Missense_Mutation_p.H412Y|ARHGEF7_uc001vrw.3_Missense_Mutation_p.H412Y|ARHGEF7_uc001vrx.3_Missense_Mutation_p.H412Y|ARHGEF7_uc010tjo.1_Missense_Mutation_p.H487Y|ARHGEF7_uc010tjp.1_Missense_Mutation_p.H334Y|ARHGEF7_uc001vry.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	590					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CATAAAGCCTCATTCAGTGCC	0.537000												
RASA3	22821	broad.mit.edu	37	13	114786883	114786883	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr13:114786883G>A	uc001vui.2	-	9	913	c.782C>T	c.(781-783)GCG>GTG	p.A261V	RASA3_uc010tkk.1_Missense_Mutation_p.A229V|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA|RASA3_uc010aha.1_RNA	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	261					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTACCACGCCTCGTAGGA	0.532000												
ACIN1	22985	broad.mit.edu	37	14	23559303	23559303	+	Silent	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:23559303T>G	uc001wit.3	-	4	826	c.498A>C	c.(496-498)TCA>TCC	p.S166S	ACIN1_uc010akg.2_Silent_p.S166S|ACIN1_uc010tnj.1_Intron	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	166	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCGACTCAGCTGAAGCTTCTG	0.562000												
NUBPL	80224	broad.mit.edu	37	14	32315787	32315787	+	Silent	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:32315787T>G	uc001wrk.3	+	9	859	c.804T>G	c.(802-804)CTT>CTG	p.L268L	NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Silent_p.L172L	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	268					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CCCTTGGTCTTGAAGTTCTAG	0.398000												
KLHL28	54813	broad.mit.edu	37	14	45414826	45414826	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:45414826C>T	uc001wvq.2	-	2	552	c.306G>A	c.(304-306)CAG>CAA	p.Q102Q	KLHL28_uc001wvr.2_Silent_p.Q102Q|KLHL28_uc001wvt.3_Silent_p.Q102Q	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	102	BTB.									ovary(1)	1						CAACTGTGTCCTGAGAAATAA	0.423000												
DDHD1	80821	broad.mit.edu	37	14	53525293	53525293	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:53525293G>A	uc001xai.2	-	9	2124	c.1894C>T	c.(1894-1896)CGT>TGT	p.R632C	DDHD1_uc001xaj.2_Missense_Mutation_p.R639C|DDHD1_uc001xah.2_Missense_Mutation_p.R632C|DDHD1_uc001xag.2_Missense_Mutation_p.R214C|DDHD1_uc001xak.1_Missense_Mutation_p.R28C	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	632	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					CGGATGCCACGCAACGCCAAG	0.383000												
C14orf37	145407	broad.mit.edu	37	14	58598379	58598379	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:58598379A>C	uc001xdc.2	-	4	1793	c.1682T>G	c.(1681-1683)GTG>GGG	p.V561G	C14orf37_uc010tro.1_Missense_Mutation_p.V599G|C14orf37_uc001xdd.2_Missense_Mutation_p.V561G|C14orf37_uc001xde.2_Missense_Mutation_p.V561G	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	561	Extracellular (Potential).					integral to membrane	binding				0						AGGAGGTGTCACTGGAGATCC	0.488000												
DHRS7	51635	broad.mit.edu	37	14	60622819	60622819	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:60622819A>C	uc001xes.2	-	2	369	c.185T>G	c.(184-186)ATT>AGT	p.I62S	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.I12S|DHRS7_uc001xeu.2_Missense_Mutation_p.I62S	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	62	NAD (By similarity).						binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CTCCTCACCAATTCCACTCGA	0.463000												
SIX6	4990	broad.mit.edu	37	14	60976600	60976600	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:60976600G>T	uc001xfa.3	+	1	663	c.484G>T	c.(484-486)GCC>TCC	p.A162S		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	162	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACGTGAGCTCGCCCAGGCAAC	0.597000												
HIF1A	3091	broad.mit.edu	37	14	62204985	62204985	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:62204985A>C	uc001xfq.2	+	10	1834	c.1430A>C	c.(1429-1431)AAA>ACA	p.K477T	HIF1A_uc001xfr.2_Missense_Mutation_p.K477T|HIF1A_uc001xfs.2_Missense_Mutation_p.K478T	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	477	ODD.			K->R: Abolishes 1 sumoylation. Abolishes 2 sumoylations; when associated with R- 391. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R- 391 and R-532.	cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GTTGCATTAAAATTAGAACCA	0.438000												
SYNE2	23224	broad.mit.edu	37	14	64375920	64375920	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:64375920C>T	uc001xgm.2	+	2	284	c.54C>T	c.(52-54)ATC>ATT	p.I18I	SYNE2_uc001xgk.2_Silent_p.I18I|SYNE2_uc001xgl.2_Silent_p.I18I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	18	Cytoplasmic (Potential).|Actin-binding.				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)		CCTGGGGCATCGACGATCTCC	0.443000												
PLEKHG3	26030	broad.mit.edu	37	14	65208090	65208090	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:65208090G>A	uc001xho.1	+	16	2124	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	PLEKHG3_uc001xhn.1_Missense_Mutation_p.V563M|PLEKHG3_uc001xhp.2_Missense_Mutation_p.V740M|PLEKHG3_uc010aqh.1_Missense_Mutation_p.V161M|PLEKHG3_uc001xhq.1_Missense_Mutation_p.V124M	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	619					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGGAGCAGCGTGGCACAGGA	0.672000												
VTI1B	10490	broad.mit.edu	37	14	68123178	68123178	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:68123178T>C	uc001xjt.2	-	4	891	c.495A>G	c.(493-495)GAA>GAG	p.E165E	VTI1B_uc010aqp.2_Silent_p.E104E|VTI1B_uc001xju.2_Silent_p.E124E	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	165	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CCCCCAGCTCTTCTATGATTT	0.517000												
MAP3K9	4293	broad.mit.edu	37	14	71215717	71215717	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:71215717G>A	uc001xmm.2	-	5	1155	c.1155C>T	c.(1153-1155)TGC>TGT	p.C385C	MAP3K9_uc010ttk.1_Silent_p.C122C|MAP3K9_uc001xmk.2_Silent_p.C79C|MAP3K9_uc001xml.2_Silent_p.C385C	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	385	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGGATTCCAGCAGTCTGAAT	0.448000												
TMEM63C	57156	broad.mit.edu	37	14	77705999	77705999	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:77705999G>A	uc001xtf.2	+	12	1072	c.860G>A	c.(859-861)GGG>GAG	p.G287E	TMEM63C_uc010asq.1_Missense_Mutation_p.G287E	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	287						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AAGAAGACTGGGAAGGTGATG	0.612000												
SEL1L	6400	broad.mit.edu	37	14	81972546	81972546	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:81972546C>T	uc010tvv.1	-	4	497	c.380G>A	c.(379-381)TGC>TAC	p.C127Y	SEL1L_uc001xvo.3_Missense_Mutation_p.C127Y	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	127	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGGGAAGTGGCAGGGCTCCCC	0.433000												
ATG2B	55102	broad.mit.edu	37	14	96798979	96798979	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:96798979G>A	uc001yfi.2	-	9	1586	c.1221C>T	c.(1219-1221)TTC>TTT	p.F407F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	407										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCATGGAGAAGAATACTTCTT	0.373000												
BCL11B	64919	broad.mit.edu	37	14	99723822	99723822	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr14:99723822T>G	uc001yga.2	-	2	680	c.413A>C	c.(412-414)CAG>CCG	p.Q138P	BCL11B_uc001ygb.2_Missense_Mutation_p.Q138P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	138						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AATGTTCTCCTGCTTGGGACA	0.602000			T	TLX3	T-ALL							
NIPA1	123606	broad.mit.edu	37	15	23052723	23052723	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:23052723T>A	uc001yvc.2	-	4	375	c.350A>T	c.(349-351)AAG>ATG	p.K117M	NIPA1_uc001yvd.2_Translation_Start_Site|NIPA1_uc001yve.2_Missense_Mutation_p.K42M	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	117	Cytoplasmic (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GATGTTGAGCTTTTCCTTCAG	0.438000												
FMN1	342184	broad.mit.edu	37	15	33359769	33359769	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:33359769C>T	uc001zhf.3	-	1	317	c.317G>A	c.(316-318)GGA>GAA	p.G106E	FMN1_uc001zhg.2_Missense_Mutation_p.G106E	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:Variant_position_missing_in_Q68DA7_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTCTGACTTCCCTCTGATTC	0.488000												
RYR3	6263	broad.mit.edu	37	15	34080453	34080453	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:34080453C>T	uc001zhi.2	+	67	9694	c.9624C>T	c.(9622-9624)CCC>CCT	p.P3208P	RYR3_uc010bar.2_Silent_p.P3208P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3208					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)		AAGCCAGGCCCGACCTGCTGA	0.498000												
MGA	23269	broad.mit.edu	37	15	42035185	42035185	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:42035185C>T	uc010ucy.1	+	15	5208	c.5027C>T	c.(5026-5028)CCT>CTT	p.P1676L	MGA_uc010ucz.1_Intron|MGA_uc010uda.1_Missense_Mutation_p.P292L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1676	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTGCTTTTCCTAAGTCTTTG	0.483000												
SECISBP2L	9728	broad.mit.edu	37	15	49303937	49303937	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:49303937A>T	uc001zxe.1	-	13	1989	c.1855T>A	c.(1855-1857)TCC>ACC	p.S619T	SECISBP2L_uc001zxd.1_Missense_Mutation_p.S574T|SECISBP2L_uc010bep.1_Missense_Mutation_p.S381T	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	619										breast(1)|skin(1)	2						CCTTCCTGGGAAACAATCTCC	0.423000												
PIGB	9488	broad.mit.edu	37	15	55643036	55643036	+	Silent	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:55643036T>A	uc002act.2	+	10	1579	c.1263T>A	c.(1261-1263)GTT>GTA	p.V421V	PIGB_uc010ugg.1_Silent_p.V226V	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	421					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		TTCAAAAAGTTTGTTACAACA	0.338000												
MNS1	55329	broad.mit.edu	37	15	56736697	56736697	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:56736697T>G	uc002adr.2	-	5	796	c.631A>C	c.(631-633)AAA>CAA	p.K211Q	MNS1_uc010bfo.2_Missense_Mutation_p.K79Q|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	211	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AGTTTCTCTTTTAGCAGCTGC	0.328000												
LCTL	197021	broad.mit.edu	37	15	66845441	66845441	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:66845441G>A	uc002aqc.2	-	9	1210	c.1078C>T	c.(1078-1080)CCC>TCC	p.P360S	LCTL_uc002aqd.3_Missense_Mutation_p.P187S|LCTL_uc010bhw.2_Missense_Mutation_p.P58S	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	360	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TGGTAGCTGGGCCCCTGGCGG	0.502000												
MYO9A	4649	broad.mit.edu	37	15	72196349	72196349	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:72196349A>G	uc002atl.3	-	21	3271	c.2798T>C	c.(2797-2799)CTT>CCT	p.L933P	MYO9A_uc010biq.2_Missense_Mutation_p.L553P|MYO9A_uc002atn.1_Missense_Mutation_p.L914P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	933	Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AAGCTGTCTAAGTACCAAGAC	0.378000												
KIAA1199	57214	broad.mit.edu	37	15	81241151	81241151	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:81241151C>T	uc002bfw.1	+	29	4232	c.3972C>T	c.(3970-3972)TTC>TTT	p.F1324F	KIAA1199_uc010unn.1_Silent_p.F1324F|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1324										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AAATGGCATTCGTTGGCTTCA	0.552000												
ZSCAN2	54993	broad.mit.edu	37	15	85164607	85164607	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:85164607A>C	uc002bkr.2	+	3	1407	c.1181A>C	c.(1180-1182)GAC>GCC	p.D394A	ZSCAN2_uc010bmz.1_Missense_Mutation_p.D392A|ZSCAN2_uc010bna.2_Missense_Mutation_p.D244A|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	394	C2H2-type 7.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAATGTACCGACTGTGGGCAG	0.507000												
C15orf58	390637	broad.mit.edu	37	15	90784820	90784820	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:90784820G>A	uc002bpc.2	+	4	859	c.680G>A	c.(679-681)AGA>AAA	p.R227K		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	227					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CTGGCCCACAGACTGCCCGTG	0.627000												
IQGAP1	8826	broad.mit.edu	37	15	90997755	90997755	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:90997755T>G	uc002bpl.1	+	14	1684	c.1583T>G	c.(1582-1584)GTG>GGG	p.V528G		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	528					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTGGACCATGTGAACCTGGTG	0.433000												
ASB7	140460	broad.mit.edu	37	15	101170069	101170069	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr15:101170069C>T	uc002bwk.2	+	5	1408	c.639C>T	c.(637-639)GAC>GAT	p.D213D	ASB7_uc002bwj.2_Silent_p.D213D	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	213	ANK 7.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GCTTAGAAGACGGACAGACTC	0.468000												
EME2	197342	broad.mit.edu	37	16	1825336	1825336	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:1825336G>A	uc002cmq.1	+	5	722	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Missense_Mutation_p.R197Q	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	197					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CACGTTTCCCGGGGGACACAG	0.692000								Direct_reversal_of_damage|Homologous_recombination				
SEPX1	51734	broad.mit.edu	37	16	1990794	1990794	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:1990794T>G	uc010uvs.1	-	4	441	c.304A>C	c.(304-306)AAG>CAG	p.K102Q		NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN	selenoprotein X, 1	102					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding			ovary(1)	1					L-Methionine(DB00134)	GGGACAAACTTCAGCGAGCTG	0.592000												
SMG1	23049	broad.mit.edu	37	16	18844380	18844380	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:18844380C>G	uc002dfm.2	-	51	9037	c.8674G>C	c.(8674-8676)GAG>CAG	p.E2892Q	SMG1_uc010bwb.2_Missense_Mutation_p.E2752Q|SMG1_uc010bwa.2_Missense_Mutation_p.E1623Q	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2892					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GTGGTCTGCTCAATAAGACCG	0.453000												
ACSM2A	123876	broad.mit.edu	37	16	20480970	20480970	+	Silent	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:20480970T>G	uc010bwe.2	+	5	764	c.525T>G	c.(523-525)CCT>CCG	p.P175P	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.P96P|ACSM2A_uc002dhf.3_Silent_p.P175P|ACSM2A_uc002dhg.3_Silent_p.P175P|ACSM2A_uc010vay.1_Silent_p.P96P	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	175					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTGAATGTCCTTCTCTGAGAA	0.408000												
ACSM2A	123876	broad.mit.edu	37	16	20497948	20497948	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:20497948C>A	uc010bwe.2	+	15	1921	c.1682C>A	c.(1681-1683)GCC>GAC	p.A561D	ACSM2A_uc002dhf.3_Missense_Mutation_p.A561D|ACSM2A_uc002dhg.3_Missense_Mutation_p.A561D|ACSM2A_uc010vay.1_Missense_Mutation_p.A482D|ACSM2A_uc002dhh.3_Missense_Mutation_p.A191D|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	561					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						ATTCAACGAGCCAAGCTTCGA	0.468000												
DNAH3	55567	broad.mit.edu	37	16	21078701	21078701	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:21078701G>A	uc010vbe.1	-	24	3421	c.3421C>T	c.(3421-3423)CGG>TGG	p.R1141W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1141	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCTGCCATCCGTGGCTGGTCG	0.463000												
EARS2	124454	broad.mit.edu	37	16	23546498	23546498	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:23546498G>A	uc002dlt.3	-	4	701	c.669C>T	c.(667-669)GAC>GAT	p.D223D	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.D223D	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	223					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TGGGGAAGCCGTCGCTCTTCA	0.627000												
ABCC12	94160	broad.mit.edu	37	16	48173246	48173246	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:48173246A>G	uc002efc.1	-	5	1005	c.659T>C	c.(658-660)GTG>GCG	p.V220A	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V220A|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	220	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TATATTGAGCACCTGGAAAGA	0.458000												
ADCY7	113	broad.mit.edu	37	16	50325788	50325788	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:50325788A>G	uc002egd.1	+	3	785	c.517A>G	c.(517-519)AGT>GGT	p.S173G	ADCY7_uc002egb.1_Missense_Mutation_p.S173G|ADCY7_uc002egc.1_Missense_Mutation_p.S173G	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	173					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CACGACACCCAGTGTCCGGGT	0.657000												
CES7	221223	broad.mit.edu	37	16	55900005	55900005	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:55900005C>T	uc002eip.2	-	5	724	c.575G>A	c.(574-576)GGG>GAG	p.G192E	CES7_uc002eio.2_Missense_Mutation_p.G192E|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.G86E	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	192						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGCCCAGTTCCCCGGAGCATG	0.577000												
BBS2	583	broad.mit.edu	37	16	56540055	56540055	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:56540055T>C	uc002ejd.2	-	6	928	c.694A>G	c.(694-696)ACA>GCA	p.T232A	BBS2_uc010ccg.2_Missense_Mutation_p.T232A	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	232					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TATCGGGATGTTTTGTCATAA	0.368000									Bardet-Biedl_syndrome			
RLTPR	146206	broad.mit.edu	37	16	67685834	67685834	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:67685834C>T	uc002etn.2	+	26	2719	c.2599C>T	c.(2599-2601)CTA>TTA	p.L867L	RLTPR_uc010cel.1_Silent_p.L860L|RLTPR_uc010vjr.1_Silent_p.L831L|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	867										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGACATGCGGCTATCAATCAC	0.458000												
FOXF1	2294	broad.mit.edu	37	16	86544609	86544609	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr16:86544609G>A	uc002fjl.2	+	1	477	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	145					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding				0						CGCGGCTTCCGAAGGAAATGC	0.682000												
SERPINF2	5345	broad.mit.edu	37	17	1650311	1650311	+	Splice_Site	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:1650311A>C	uc002ftk.1	+	6	445	c.368_splice	c.e6-2	p.G123_splice	SERPINF2_uc010vqr.1_Splice_Site_p.G59_splice	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor						acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGTGCCCTCCAGGTGCTCAGA	0.682000												
MINK1	50488	broad.mit.edu	37	17	4799503	4799503	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:4799503C>T	uc010vsl.1	+	29	3677	c.3481C>T	c.(3481-3483)CCC>TCC	p.P1161S	MINK1_uc010vsk.1_Missense_Mutation_p.P1132S|MINK1_uc010vsm.1_Missense_Mutation_p.P1141S|MINK1_uc010vsn.1_Missense_Mutation_p.P1124S|MINK1_uc010vso.1_Missense_Mutation_p.P1069S|MINK1_uc010vsp.1_Missense_Mutation_p.P622S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	1161	Mediates interaction with RAP2A.|CNH.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						TGCCGACCTCCCCCACCGCCC	0.642000											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:7578176C>T	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.2_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.517000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TRPV2	51393	broad.mit.edu	37	17	16326203	16326203	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:16326203G>A	uc002gpy.2	+	4	992	c.625G>A	c.(625-627)GGT>AGT	p.G209S	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	209	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTTTATTTCGGTGAGTGAGC	0.343000												
POLDIP2	26073	broad.mit.edu	37	17	26679998	26679998	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:26679998C>T	uc002haz.2	-	9	694	c.562G>A	c.(562-564)GAT>AAT	p.D188N	POLDIP2_uc010wag.1_RNA	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	DNA polymerase delta interacting protein 2	188						mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAACCTGATCAGTGGAGGTG	0.483000												
EFCAB5	374786	broad.mit.edu	37	17	28405470	28405470	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:28405470G>C	uc002het.2	+	15	3167	c.2975G>C	c.(2974-2976)AGT>ACT	p.S992T	EFCAB5_uc010cse.2_Missense_Mutation_p.S747T|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	992							calcium ion binding			ovary(1)|skin(1)	2						GCAGAGACAAGTGGGGTGTCC	0.473000												
AMAC1	146861	broad.mit.edu	37	17	33520866	33520866	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:33520866A>G	uc002hjd.2	-	1	547	c.461T>C	c.(460-462)CTC>CCC	p.L154P		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	154	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GTAGCCACTGAGACCCTGGCT	0.602000												
CCL15	6359	broad.mit.edu	37	17	34324842	34324842	+	Silent	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:34324842A>C	uc010wcu.1	-	4	872	c.303T>G	c.(301-303)GTT>GTG	p.V101V	CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	NM_032965	NP_116741	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15 precursor	101					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCAATCCTGAACTCCCGGAC	0.498000												
HDAC5	10014	broad.mit.edu	37	17	42158248	42158248	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:42158248G>A	uc002ifd.1	-	21	2821	c.2610C>T	c.(2608-2610)GAC>GAT	p.D870D	HDAC5_uc002ife.1_Silent_p.D870D|HDAC5_uc002iff.1_Silent_p.D871D|HDAC5_uc010czp.1_Silent_p.D785D	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	870	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CATGGTGAATGTCCTATGAGG	0.458000												
SLC35B1	10237	broad.mit.edu	37	17	47784418	47784418	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:47784418C>T	uc002iph.1	-	2	204	c.117G>A	c.(115-117)AAG>AAA	p.K39K	SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Silent_p.K39K	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	39						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						CTTCCCCATACTTTCCTCTTG	0.408000												
SGCA	6442	broad.mit.edu	37	17	48243432	48243432	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:48243432C>T	uc002iqi.2	+	1	67	c.31C>T	c.(31-33)CTC>TTC	p.L11F	SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Missense_Mutation_p.L11F|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	11					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						GACTCCTCTCCTCGTGGGCAA	0.512000												
C17orf47	284083	broad.mit.edu	37	17	56620386	56620386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:56620386C>A	uc002iwq.1	-	1	1298	c.1162G>T	c.(1162-1164)GGA>TGA	p.G388*	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	388										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTGTAGGTCCTTGGGACATG	0.507000												
MARCH10	162333	broad.mit.edu	37	17	60814271	60814271	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:60814271C>A	uc010ddr.2	-	6	1196	c.958G>T	c.(958-960)GGG>TGG	p.G320W	MARCH10_uc002jag.3_Missense_Mutation_p.G320W|MARCH10_uc010dds.2_Missense_Mutation_p.G358W|MARCH10_uc002jah.2_Missense_Mutation_p.G319W|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	320							ligase activity|zinc ion binding				0						GATGTCCCCCCAAATCTACTT	0.458000												
USP36	57602	broad.mit.edu	37	17	76795750	76795750	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:76795750T>C	uc002jvz.1	-	18	3448	c.3123A>G	c.(3121-3123)AAA>AAG	p.K1041K	USP36_uc002jwa.1_Silent_p.K1041K|USP36_uc002jvy.1_Silent_p.K101K	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1039					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AATCAGTACCTTTTCTCCCGT	0.517000												
RNF213	57674	broad.mit.edu	37	17	78346774	78346774	+	Splice_Site	SNP	G	G	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr17:78346774G>C	uc002jyh.1	+	24	7194	c.6971_splice	c.e24-1	p.E2324_splice	uc002jyi.1_Intron|RNF213_uc010dhw.1_Splice_Site_p.E706_splice	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCCTCTCAGAGATGGCCAA	0.567000												
LAMA1	284217	broad.mit.edu	37	18	7026061	7026061	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:7026061C>A	uc002knm.2	-	17	2413	c.2319G>T	c.(2317-2319)TTG>TTT	p.L773F	LAMA1_uc010wzj.1_Missense_Mutation_p.L249F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	773	Laminin EGF-like 6.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGCCGGGCAAGCACTGCT	0.582000												
PTPRM	5797	broad.mit.edu	37	18	8076538	8076538	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:8076538A>G	uc002knn.3	+	9	2030	c.1527A>G	c.(1525-1527)ACA>ACG	p.T509T	PTPRM_uc010dkv.2_Silent_p.T509T|PTPRM_uc010wzl.1_Silent_p.T296T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	509	Fibronectin type-III 3.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CAACTCAAACATATGGTGTAA	0.343000												
ROCK1	6093	broad.mit.edu	37	18	18564356	18564356	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:18564356C>T	uc002kte.2	-	20	3386	c.2445G>A	c.(2443-2445)TTG>TTA	p.L815L		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	815	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TCTTTGCTTCCAATAAAGTAT	0.308000												
DSG3	1830	broad.mit.edu	37	18	29044186	29044186	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:29044186C>T	uc002kws.2	+	9	1221	c.1112C>T	c.(1111-1113)ACA>ATA	p.T371I		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	371	Cadherin 3.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCCAGTCACAATTCAGGTA	0.378000												
LIPG	9388	broad.mit.edu	37	18	47109931	47109931	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:47109931A>T	uc002ldv.2	+	8	1415	c.1163A>T	c.(1162-1164)GAG>GTG	p.E388V	LIPG_uc010xdh.1_Missense_Mutation_p.E314V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	388	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						TGTAGAGTGGAGCGGATCGAG	0.567000												
NARS	4677	broad.mit.edu	37	18	55269717	55269717	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:55269717A>C	uc002lgs.2	-	13	1613	c.1385T>G	c.(1384-1386)GTC>GGC	p.V462G	NARS_uc002lgt.2_Missense_Mutation_p.V461G|NARS_uc010xea.1_Missense_Mutation_p.V213G	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	462					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	CAACACGTCGACCTTTAAATA	0.398000												
ATP8B1	5205	broad.mit.edu	37	18	55319362	55319362	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:55319362A>C	uc002lgw.2	-	25	3304	c.3304T>G	c.(3304-3306)TCA>GCA	p.S1102A	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1102	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCAAAAATTGAAAAAGCATTC	0.358000									Byler_disease			
SERPINB4	6318	broad.mit.edu	37	18	61326649	61326649	+	Missense_Mutation	SNP	G	G	A	rs140004752		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:61326649G>A	uc002ljg.2	-	3	361	c.335C>T	c.(334-336)ACG>ATG	p.T112M	SERPINB3_uc002lji.2_Missense_Mutation_p.T112M|SERPINB3_uc010dqa.2_Missense_Mutation_p.T112M|SERPINB3_uc010dqb.2_Missense_Mutation_p.T112M			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	112					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AAATAGATACGTTTTTTCTCC	0.418000												
CDH7	1005	broad.mit.edu	37	18	63548089	63548089	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:63548089G>A	uc002ljz.2	+	12	2642	c.2317G>A	c.(2317-2319)GCG>ACG	p.A773T	CDH7_uc002lkb.2_Missense_Mutation_p.A773T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	773	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A773T(1)		ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TAAACGACTCGCGGACATGTA	0.408000												
CCDC102B	79839	broad.mit.edu	37	18	66504478	66504478	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:66504478C>T	uc002lkk.2	+	4	701	c.478C>T	c.(478-480)CTT>TTT	p.L160F	CCDC102B_uc002lki.2_Missense_Mutation_p.L160F|CCDC102B_uc002lkj.1_Missense_Mutation_p.L160F	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	160										ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGATCTGAAGCTTCCTGGCTT	0.393000												
RTTN	25914	broad.mit.edu	37	18	67871349	67871349	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:67871349A>G	uc002lkp.2	-	3	438	c.370T>C	c.(370-372)TCT>CCT	p.S124P	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S124P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	124							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TATGAGGCAGAAGATAGTGCA	0.368000												
ADNP2	22850	broad.mit.edu	37	18	77893739	77893739	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr18:77893739C>T	uc002lnw.2	+	4	898	c.443C>T	c.(442-444)TCT>TTT	p.S148F		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	148					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACTAAATCATCTAGGAGCGAT	0.408000												
GTF2F1	2962	broad.mit.edu	37	19	6387561	6387561	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:6387561G>A	uc002meq.2	-	5	621	c.336C>T	c.(334-336)GGC>GGT	p.G112G	GTF2F1_uc010xjb.1_5'UTR|GTF2F1_uc010xjc.1_Intron	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	112					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						CCTTCTTGATGCCCTTGAACC	0.632000												
MUC16	94025	broad.mit.edu	37	19	9082954	9082954	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:9082954T>A	uc002mkp.2	-	1	9065	c.8861A>T	c.(8860-8862)CAA>CTA	p.Q2954L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2955	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACCTGTTGATTGAAATGAGCT	0.498000												
DNMT1	1786	broad.mit.edu	37	19	10250741	10250741	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:10250741G>A	uc002mng.2	-	32	3919	c.3739C>T	c.(3739-3741)CTG>TTG	p.L1247L	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.L171L|DNMT1_uc010xlc.1_Silent_p.L1263L|DNMT1_uc002mnh.2_Silent_p.L1142L|DNMT1_uc010xld.1_Silent_p.L1247L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1247	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAACCACCAGAGAGTTTTTG	0.607000												
ICAM5	7087	broad.mit.edu	37	19	10404989	10404989	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:10404989C>T	uc002mnu.3	+	8	2050	c.1985C>T	c.(1984-1986)GCG>GTG	p.A662V	ICAM5_uc002mnv.3_Missense_Mutation_p.A537V	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	662	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTCGTGAGCGCGGAGTGTGAG	0.662000												
ZNF439	90594	broad.mit.edu	37	19	11977395	11977395	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:11977395C>A	uc002mss.2	+	2	347	c.219C>A	c.(217-219)AAC>AAA	p.N73K	ZNF439_uc002msr.2_5'UTR	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGTACCAAAACCCCAGGAGAA	0.313000												
NWD1	284434	broad.mit.edu	37	19	16918624	16918624	+	Missense_Mutation	SNP	G	G	A	rs141165642	byFrequency	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:16918624G>A	uc002neu.3	+	18	4386	c.3964G>A	c.(3964-3966)GTC>ATC	p.V1322I	NWD1_uc002net.3_Missense_Mutation_p.V1187I|NWD1_uc002nev.3_Missense_Mutation_p.V1116I			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1322							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TGACAACATCGTCCTGGTGCT	0.612000												
CPAMD8	27151	broad.mit.edu	37	19	17036025	17036025	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:17036025G>A	uc002nfb.2	-	26	3701	c.3669C>T	c.(3667-3669)ACC>ACT	p.T1223T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1176						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGTAGTCGGTGGTCTCTCTCT	0.542000												
FKBP8	23770	broad.mit.edu	37	19	18652561	18652561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:18652561G>A	uc002njk.1	-	2	333	c.220C>T	c.(220-222)CGA>TGA	p.R74*	FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Nonsense_Mutation_p.R103*|FKBP8_uc002njj.1_Nonsense_Mutation_p.R74*|FKBP8_uc002njl.1_Nonsense_Mutation_p.R74*|FKBP8_uc002njm.1_Nonsense_Mutation_p.R74*|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	74	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						AGGAACTCTCGGGCCAGGGCC	0.607000												
ZNF99	7652	broad.mit.edu	37	19	22939044	22939044	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:22939044G>T	uc010xrh.1	-	8	3074	c.3074C>A	c.(3073-3075)ACT>AAT	p.T1025N		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTAGTAAGGGCTGA	0.348000												
DYRK1B	9149	broad.mit.edu	37	19	40319150	40319150	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:40319150G>A	uc002omj.2	-	6	874	c.594C>T	c.(592-594)TAC>TAT	p.Y198Y	DYRK1B_uc002omi.2_Silent_p.Y198Y|DYRK1B_uc002omk.2_Silent_p.Y198Y	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	198	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCAGGAGGTCGTACAGGTTGT	0.622000												
PSG3	5671	broad.mit.edu	37	19	43242962	43242962	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:43242962T>G	uc002oue.2	-	2	476	c.344A>C	c.(343-345)GAG>GCG	p.E115A	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.E137A	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	115	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				TCCTGCGTCCTCCCGGGTGAC	0.468000												
ZNF234	10780	broad.mit.edu	37	19	44660716	44660716	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:44660716A>C	uc002oym.2	+	6	854	c.547A>C	c.(547-549)AAA>CAA	p.K183Q	ZNF234_uc002oyl.3_Missense_Mutation_p.K183Q	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	183	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TGAGTGTGGAAAAAGCTTCTG	0.393000												
ZNF285	26974	broad.mit.edu	37	19	44891747	44891747	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:44891747T>G	uc002ozd.3	-	4	747	c.660A>C	c.(658-660)GAA>GAC	p.E220D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.E227D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						CATTACGTTTTTCAACCGTTG	0.468000												
MEIS3	56917	broad.mit.edu	37	19	47918036	47918036	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:47918036C>T	uc002pgu.2	-	6	982	c.535G>A	c.(535-537)GAC>AAC	p.D179N	MEIS3_uc002pgo.2_5'Flank|MEIS3_uc002pgp.2_Missense_Mutation_p.D11N|MEIS3_uc002pgq.2_Missense_Mutation_p.D260N|MEIS3_uc002pgr.2_Missense_Mutation_p.D47N|MEIS3_uc002pgt.2_Missense_Mutation_p.D162N|MEIS3_uc002pgv.2_Missense_Mutation_p.D162N|MEIS3_uc002pgs.2_Missense_Mutation_p.D179N|MEIS3_uc010eld.2_Missense_Mutation_p.D179N	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CAGCCGCCGTCCCGATCCTCG	0.667000												
ZNF175	7728	broad.mit.edu	37	19	52091509	52091509	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:52091509C>T	uc002pxb.2	+	5	2303	c.1925C>T	c.(1924-1926)CCC>CTC	p.P642L	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	642					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGAGAGAAACCCTATGAATGC	0.438000												
ZNF528	84436	broad.mit.edu	37	19	52918758	52918758	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:52918758G>A	uc002pzh.2	+	7	1079	c.653G>A	c.(652-654)TGT>TAT	p.C218Y	ZNF528_uc002pzi.2_Translation_Start_Site	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	218	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAGTGAATGTGGCAAGGTC	0.408000												
NLRP4	147945	broad.mit.edu	37	19	56369641	56369641	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:56369641A>G	uc002qmd.3	+	3	1304	c.882A>G	c.(880-882)TCA>TCG	p.S294S	NLRP4_uc002qmf.2_Silent_p.S219S|NLRP4_uc010etf.2_Silent_p.S125S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	294	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGATCTCAGAAATCTACC	0.522000												
NLRP5	126206	broad.mit.edu	37	19	56538970	56538970	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:56538970G>A	uc002qmj.2	+	7	1371	c.1371G>A	c.(1369-1371)GCG>GCA	p.A457A	NLRP5_uc002qmi.2_Silent_p.A438A	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	457	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)		GGTTGCGTGCGATCATGAACA	0.597000												
USP29	57663	broad.mit.edu	37	19	57642751	57642751	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr19:57642751C>T	uc002qny.2	+	4	3064	c.2708C>T	c.(2707-2709)ACA>ATA	p.T903I		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	903					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACCTAGCACACAGGCAGGG	0.493000												
ASAP2	8853	broad.mit.edu	37	2	9508631	9508631	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:9508631C>T	uc002qzh.2	+	16	1879	c.1539C>T	c.(1537-1539)CCC>CCT	p.P513P	ASAP2_uc002qzi.2_Silent_p.P513P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	513	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CAGTCAAACCCAACCCAGGCA	0.478000												
TRIM54	57159	broad.mit.edu	37	2	27522174	27522174	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:27522174A>G	uc002rjo.2	+	3	403	c.403A>G	c.(403-405)AAT>GAT	p.N135D	TRIM54_uc002rjn.2_Missense_Mutation_p.N135D	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	135	B box-type.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAAGATCAATATTTACTG	0.567000												
MPV17	4358	broad.mit.edu	37	2	27534778	27534778	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:27534778G>A	uc002rjr.2	-	6	497	c.450C>T	c.(448-450)CCC>CCT	p.P150P	MPV17_uc002rjq.2_Intron|MPV17_uc002rjs.2_Silent_p.P150P|MPV17_uc002rjt.2_RNA	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	150	Helical; (Potential).				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAATGAAGGGGGACCAGGT	0.507000												
SPDYA	245711	broad.mit.edu	37	2	29039042	29039042	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:29039042C>T	uc002rmj.2	+	3	368	c.162C>T	c.(160-162)AAC>AAT	p.N54N	SPDYA_uc002rmi.2_Silent_p.N54N|SPDYA_uc002rmk.2_Silent_p.N54N|SPDYA_uc002rml.2_Silent_p.N54N	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	54					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					ATAATAACAACAAATCTAAAC	0.343000												
CYP1B1	1545	broad.mit.edu	37	2	38302315	38302315	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:38302315A>G	uc002rqo.2	-	3	620	c.217T>C	c.(217-219)TCG>CCG	p.S73P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	73					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	CGAGCGAACGAGAGGTGAGCC	0.721000												
MDH1	4190	broad.mit.edu	37	2	63834000	63834000	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:63834000A>C	uc002scj.1	+	9	940	c.884A>C	c.(883-885)AAG>ACG	p.K295T	MDH1_uc010ypv.1_Missense_Mutation_p.K313T|MDH1_uc010ypw.1_Missense_Mutation_p.K200T	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	295					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	AAACAGAATAAGACCTGGAAG	0.333000												
SPRED2	200734	broad.mit.edu	37	2	65541156	65541156	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:65541156C>T	uc002sdr.3	-	6	1271	c.736G>A	c.(736-738)GAC>AAC	p.D246N	SPRED2_uc010fcw.2_Missense_Mutation_p.D243N	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	246	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGTCCGCGTCCTCCGAGGGG	0.632000												
GPAT2	150763	broad.mit.edu	37	2	96690197	96690197	+	Silent	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:96690197G>T	uc002svf.2	-	15	1870	c.1647C>A	c.(1645-1647)GTC>GTA	p.V549V	GPAT2_uc002svd.2_Silent_p.V368V|GPAT2_uc002sve.2_Silent_p.V351V|GPAT2_uc002svg.2_Silent_p.V428V|GPAT2_uc010yuh.1_Silent_p.V478V|GPAT2_uc002svh.2_Silent_p.V549V	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	549					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						CGCTCAGGAAGACGGGCAGCA	0.632000												
TBC1D8	11138	broad.mit.edu	37	2	101638823	101638823	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:101638823A>G	uc010fiv.2	-	16	2767	c.2636T>C	c.(2635-2637)ATC>ACC	p.I879T	TBC1D8_uc002tau.3_Missense_Mutation_p.I636T	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	879					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						TTCGGCGAGGATCTCCGTGTG	0.587000												
MAP4K4	9448	broad.mit.edu	37	2	102486168	102486168	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:102486168G>A	uc002tbg.2	+	20	2360	c.2305G>A	c.(2305-2307)GAG>AAG	p.E769K	MAP4K4_uc002tbc.2_Missense_Mutation_p.E850K|MAP4K4_uc002tbd.2_Missense_Mutation_p.E742K|MAP4K4_uc002tbe.2_Missense_Mutation_p.E688K|MAP4K4_uc002tbf.2_Missense_Mutation_p.E739K|MAP4K4_uc010yvy.1_Missense_Mutation_p.E765K|MAP4K4_uc002tbh.2_Missense_Mutation_p.E687K|MAP4K4_uc002tbi.2_Missense_Mutation_p.E572K|MAP4K4_uc010yvz.1_Missense_Mutation_p.E745K|MAP4K4_uc002tbk.2_Missense_Mutation_p.E224K|MAP4K4_uc002tbl.2_5'UTR	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	769					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CTCATCCAGTGAGGAGTCGGG	0.582000												
DDX18	8886	broad.mit.edu	37	2	118575280	118575280	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:118575280A>C	uc002tlh.1	+	2	445	c.346A>C	c.(346-348)AAA>CAA	p.K116Q		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	116	Poly-Lys.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						GAAAAAGAGAAAAATGGTGAA	0.348000												
TMEM37	140738	broad.mit.edu	37	2	120194860	120194860	+	Silent	SNP	C	C	T	rs148949485		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:120194860C>T	uc002tly.2	+	2	451	c.417C>T	c.(415-417)TCC>TCT	p.S139S		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	139	Helical; (Potential).					integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1						TCCTCTCCTCCGGCGGGCTCC	0.547000												
MYO7B	4648	broad.mit.edu	37	2	128392752	128392752	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:128392752T>G	uc002top.2	+	42	5746	c.5693T>G	c.(5692-5694)ATA>AGA	p.I1898R	MYO7B_uc002tos.1_Missense_Mutation_p.I8R|MYO7B_uc002tot.2_Missense_Mutation_p.I8R	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1898	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGCTCAACATATCTCCAGGG	0.627000												
FMNL2	114793	broad.mit.edu	37	2	153475530	153475530	+	Silent	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:153475530A>C	uc002tye.2	+	14	1852	c.1485A>C	c.(1483-1485)CCA>CCC	p.P495P	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	495					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CCATACTGCCAGTTGTGGCTT	0.507000												
TANC1	85461	broad.mit.edu	37	2	160086957	160086957	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:160086957A>C	uc002uag.2	+	27	5294	c.5020A>C	c.(5020-5022)AAG>CAG	p.K1674Q	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.K518Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1674	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CAGCAGCATAAAGATGTCAAG	0.512000												
LRP2	4036	broad.mit.edu	37	2	170081876	170081876	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:170081876A>G	uc002ues.2	-	33	5695	c.5482T>C	c.(5482-5484)TTA>CTA	p.L1828L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1828	LDL-receptor class B 15.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCCAATCTAAGGCCAGGTTC	0.388000												
PPIG	9360	broad.mit.edu	37	2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:170488410G>A	uc002uez.2	+	11	1116	c.896G>A	c.(895-897)AGG>AAG	p.R299K	PPIG_uc010fpx.2_Missense_Mutation_p.R284K|PPIG_uc010fpy.2_Missense_Mutation_p.R292K|PPIG_uc002ufa.2_Missense_Mutation_p.R299K|PPIG_uc002ufb.2_Missense_Mutation_p.R299K|PPIG_uc002ufd.2_Missense_Mutation_p.R296K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	299					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.284000												
CYBRD1	79901	broad.mit.edu	37	2	172398188	172398188	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:172398188T>G	uc002ugy.3	+	2	477	c.287T>G	c.(286-288)CTT>CGT	p.L96R	CYBRD1_uc002ugz.3_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	96	Cytochrome b561.|Helical; Name=3; (Potential).				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						GCTGCCATTCTTGCAATTATC	0.468000												
OSBPL6	114880	broad.mit.edu	37	2	179247154	179247154	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:179247154A>C	uc002ulx.2	+	16	1919	c.1541A>C	c.(1540-1542)GAT>GCT	p.D514A	OSBPL6_uc002ulw.2_Missense_Mutation_p.D447A|OSBPL6_uc002uly.2_Missense_Mutation_p.D539A|OSBPL6_uc010zfe.1_Missense_Mutation_p.D483A|OSBPL6_uc002ulz.2_Missense_Mutation_p.D478A|OSBPL6_uc002uma.2_Missense_Mutation_p.D518A	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	514					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TAGGCTTCAGATGATGAGTCT	0.353000												
TTN	7273	broad.mit.edu	37	2	179478624	179478624	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:179478624G>A	uc010zfg.1	-	212	41906	c.41682C>T	c.(41680-41682)ATC>ATT	p.I13894I	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I7589I|TTN_uc010zfi.1_Silent_p.I7522I|TTN_uc010zfj.1_Silent_p.I7397I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14821							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCTTTAGTGATATCAGAAG	0.428000												
TTN	7273	broad.mit.edu	37	2	179665321	179665321	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:179665321A>G	uc002und.2	-	4	609	c.384T>C	c.(382-384)ACT>ACC	p.T128T	TTN_uc010zfg.1_Silent_p.T128T|TTN_uc010zfh.1_Silent_p.T128T|TTN_uc010zfi.1_Silent_p.T128T|TTN_uc010zfj.1_Silent_p.T128T|TTN_uc002unb.2_Silent_p.T128T			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	128							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGGATTCCAGTCACTCTCA	0.522000												
FAM171B	165215	broad.mit.edu	37	2	187625939	187625939	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:187625939T>G	uc002ups.2	+	7	1224	c.1112T>G	c.(1111-1113)TTT>TGT	p.F371C	FAM171B_uc002upr.1_Missense_Mutation_p.F371C|FAM171B_uc002upt.2_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	371	Helical; (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						ATTGGATTTTTTGCTGTACTA	0.338000												
ZSWIM2	151112	broad.mit.edu	37	2	187698698	187698698	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:187698698A>C	uc002upu.1	-	6	843	c.803T>G	c.(802-804)CTT>CGT	p.L268R		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	268	ZZ-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CGTGTGGGAAAGATGGCAGCA	0.358000												
ASNSD1	54529	broad.mit.edu	37	2	190532199	190532199	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:190532199C>T	uc002uqt.2	+	4	1775	c.1341C>T	c.(1339-1341)CAC>CAT	p.H447H		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	447	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAATATGTCACTTAATTCGGC	0.408000												
CCDC108	255101	broad.mit.edu	37	2	219890820	219890820	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:219890820G>A	uc002vjl.1	-	14	2357	c.2273C>T	c.(2272-2274)ACG>ATG	p.T758M		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	758						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCCGCACCGTCAGGCACCA	0.587000												
DNPEP	23549	broad.mit.edu	37	2	220246268	220246268	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:220246268T>C	uc010zlg.1	-	12	1242	c.1160A>G	c.(1159-1161)AAG>AGG	p.K387R	DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.K379R|DNPEP_uc002vlf.1_Missense_Mutation_p.K365R|DNPEP_uc002vlh.2_Missense_Mutation_p.K326R|DNPEP_uc002vli.1_Missense_Mutation_p.K326R	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	369					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACGTCTCACCTTGTGGAATAA	0.438000												
SCG2	7857	broad.mit.edu	37	2	224463773	224463773	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:224463773T>C	uc002vnm.2	-	2	361	c.228A>G	c.(226-228)CCA>CCG	p.P76P		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	76					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GATTATAATCTGGGCTGCTTT	0.458000												
DOCK10	55619	broad.mit.edu	37	2	225639814	225639814	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:225639814C>T	uc010fwz.1	-	52	6060	c.5821G>A	c.(5821-5823)GAC>AAC	p.D1941N	DOCK10_uc002vob.2_Missense_Mutation_p.D1935N|DOCK10_uc002voa.2_Missense_Mutation_p.D597N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1941	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TATTTGGGGTCCAAATCCTTG	0.498000												
CCL20	6364	broad.mit.edu	37	2	228680227	228680227	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:228680227T>G	uc002vpl.2	+	2	204	c.134T>G	c.(133-135)TTT>TGT	p.F45C	CCL20_uc002vpm.2_Missense_Mutation_p.F44C	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	45					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CATCCTAAATTTATTGTGGGC	0.368000												
SPHKAP	80309	broad.mit.edu	37	2	228884214	228884214	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:228884214A>G	uc002vpq.2	-	7	1403	c.1356T>C	c.(1354-1356)GTT>GTC	p.V452V	SPHKAP_uc002vpp.2_Silent_p.V452V|SPHKAP_uc010zlx.1_Silent_p.V452V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	452						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTCTGAACAACGACGATTT	0.507000												
SPHKAP	80309	broad.mit.edu	37	2	228884224	228884224	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:228884224T>G	uc002vpq.2	-	7	1393	c.1346A>C	c.(1345-1347)AAA>ACA	p.K449T	SPHKAP_uc002vpp.2_Missense_Mutation_p.K449T|SPHKAP_uc010zlx.1_Missense_Mutation_p.K449T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	449						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AACGACGATTTTGGGGAGCTC	0.502000												
SP140	11262	broad.mit.edu	37	2	231109759	231109759	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:231109759G>A	uc002vql.2	+	6	743	c.628G>A	c.(628-630)GCT>ACT	p.A210T	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.A210T|SP140_uc002vqn.2_Missense_Mutation_p.A210T|SP140_uc002vqm.2_Missense_Mutation_p.A210T|SP140_uc010fxl.2_Missense_Mutation_p.A210T	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	210					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGGAGATGCTGAAGATGC	0.453000												
SP100	6672	broad.mit.edu	37	2	231327182	231327182	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:231327182G>A	uc002vqt.2	+	10	1147	c.1006G>A	c.(1006-1008)GAC>AAC	p.D336N	SP100_uc002vqs.2_Missense_Mutation_p.D336N|SP100_uc002vqu.1_Missense_Mutation_p.D336N|SP100_uc010zmb.1_Missense_Mutation_p.D336N|SP100_uc002vqq.1_Missense_Mutation_p.D336N|SP100_uc002vqr.1_Missense_Mutation_p.D311N|SP100_uc010zmc.1_Missense_Mutation_p.D311N|SP100_uc002vqv.1_Missense_Mutation_p.D300N	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	336					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGATCCACTGACGTTGATGA	0.488000												
AQP12A	375318	broad.mit.edu	37	2	241631397	241631397	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:241631397C>T	uc002vzu.2	+	1	136	c.67C>T	c.(67-69)CGG>TGG	p.R23W	AQP12A_uc002vzv.2_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	23						integral to membrane	transporter activity				0		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGGCCAGGCGGGCCTCCAA	0.687000												
PASK	23178	broad.mit.edu	37	2	242065717	242065717	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:242065717G>A	uc002wao.1	-	10	2705	c.2613C>T	c.(2611-2613)GTC>GTT	p.V871V	PASK_uc010zol.1_Silent_p.V685V|PASK_uc010zom.1_Silent_p.V836V|PASK_uc010fzl.1_Silent_p.V871V|PASK_uc010zon.1_Silent_p.V652V|PASK_uc002wap.2_Silent_p.V414V|PASK_uc002waq.2_Silent_p.V871V	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	871					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCGTGGAGGTGACCTGGACGT	0.632000												
GZF1	64412	broad.mit.edu	37	20	23350829	23350829	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:23350829T>C	uc010gdb.2	+	7	2061	c.1887T>C	c.(1885-1887)TAT>TAC	p.Y629Y	GZF1_uc002wsy.2_Silent_p.Y629Y|GZF1_uc010zsq.1_Silent_p.Y153Y|GZF1_uc010zsr.1_Silent_p.Y138Y|GZF1_uc002wsz.2_Silent_p.Y629Y	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	629					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACGAAGAGTATGTGTCATCCA	0.463000												
NCOA6	23054	broad.mit.edu	37	20	33329501	33329501	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:33329501A>T	uc002xav.2	-	12	7130	c.4559T>A	c.(4558-4560)GTT>GAT	p.V1520D	NCOA6_uc002xaw.2_Missense_Mutation_p.V1520D	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1520					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						CTCCCCAGAAACTACTGGAGG	0.443000												
FAM83D	81610	broad.mit.edu	37	20	37581154	37581154	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:37581154C>T	uc002xjg.2	+	4	1880	c.1839C>T	c.(1837-1839)TCC>TCT	p.S613S		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	583					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TTTATCCTTCCTATCAGTAAC	0.418000												
TOX2	84969	broad.mit.edu	37	20	42602048	42602048	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:42602048C>G	uc002xlf.3	+	2	185	c.168C>G	c.(166-168)AAC>AAG	p.N56K	TOX2_uc010ggo.2_Missense_Mutation_p.N47K|TOX2_uc002xle.3_Missense_Mutation_p.N5K|TOX2_uc010ggp.2_Missense_Mutation_p.N5K|TOX2_uc002xlg.2_Missense_Mutation_p.N5K	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTGACGGAAACCCAGAGCTCC	0.542000												
SEMG2	6407	broad.mit.edu	37	20	43851115	43851115	+	Missense_Mutation	SNP	G	G	A	rs138747718	by1000genomes	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:43851115G>A	uc010ggz.2	+	2	899	c.842G>A	c.(841-843)CGG>CAG	p.R281Q	SEMG2_uc002xnk.2_Missense_Mutation_p.R281Q|SEMG2_uc002xnl.2_Missense_Mutation_p.R281Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	281	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCGGAAGGCACAT	0.403000												
CDH22	64405	broad.mit.edu	37	20	44839198	44839198	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:44839198C>T	uc002xrm.2	-	6	1435	c.1034G>A	c.(1033-1035)CGC>CAC	p.R345H	CDH22_uc010ghk.1_Missense_Mutation_p.R345H|CDH22_uc002xrn.1_Missense_Mutation_p.R96H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	345	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GAAGTCCAGGCGCTGCGGGAG	0.677000												
TPTE	7179	broad.mit.edu	37	21	10944678	10944678	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:10944678T>G	uc002yip.1	-	11	924	c.556A>C	c.(556-558)AAT>CAT	p.N186H	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N168H|TPTE_uc002yir.1_Missense_Mutation_p.N148H|TPTE_uc010gkv.1_Missense_Mutation_p.N48H	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	186					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGGGAATATTCCTAAGCAAC	0.284000												
GRIK1	2897	broad.mit.edu	37	21	31023457	31023457	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:31023457A>G	uc002yno.1	-	6	1399	c.935T>C	c.(934-936)CTT>CCT	p.L312P	GRIK1_uc002ynn.2_Missense_Mutation_p.L312P|GRIK1_uc011acs.1_Missense_Mutation_p.L312P|GRIK1_uc011act.1_Missense_Mutation_p.L256P|GRIK1_uc010glq.1_Missense_Mutation_p.L170P|GRIK1_uc002ynr.2_Missense_Mutation_p.L312P	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	312	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCATCCAAAAGGCCAGTCTC	0.443000												
GART	2618	broad.mit.edu	37	21	34903839	34903839	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:34903839C>T	uc002yrx.2	-	6	688	c.553G>A	c.(553-555)GAA>AAA	p.E185K	GART_uc002yrz.2_Missense_Mutation_p.E185K|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.E185K|GART_uc002ysa.2_Missense_Mutation_p.E185K	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	185	ATP (By similarity).|ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	ACAATTGTTTCTCCAGCTGCC	0.338000												
MORC3	23515	broad.mit.edu	37	21	37741808	37741808	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:37741808A>C	uc002yvi.2	+	15	2218	c.2142A>C	c.(2140-2142)AAA>AAC	p.K714N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	714	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AGAATTATAAAAGACAGTGTC	0.383000												
HLCS	3141	broad.mit.edu	37	21	38308759	38308759	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:38308759A>G	uc010gnb.2	-	4	2187	c.986T>C	c.(985-987)GTT>GCT	p.V329A	HLCS_uc002yvs.2_Missense_Mutation_p.V329A|HLCS_uc010gnc.1_Missense_Mutation_p.V476A	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	329					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTGGCAAAGAACAGCTTCTCC	0.522000												
AIRE	326	broad.mit.edu	37	21	45713694	45713694	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:45713694G>A	uc002zei.2	+	11	1428	c.1301G>A	c.(1300-1302)TGC>TAC	p.C434Y	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.C237Y|AIRE_uc010gpr.2_Missense_Mutation_p.C237Y	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	434	PHD-type 2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706000									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy			
TRPM2	7226	broad.mit.edu	37	21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	rs138586774		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr21:45833885C>T	uc002zet.1	+	21	3287	c.3074C>T	c.(3073-3075)ACG>ATG	p.T1025M	TRPM2_uc002zeu.1_Missense_Mutation_p.T1025M|TRPM2_uc002zew.1_Missense_Mutation_p.T1025M|TRPM2_uc010gpt.1_Missense_Mutation_p.T1025M|TRPM2_uc002zex.1_Missense_Mutation_p.T811M|TRPM2_uc002zey.1_Missense_Mutation_p.T538M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1025	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAGTGGCTGACGGTCCTCCTA	0.637000												
CECR2	27443	broad.mit.edu	37	22	17978449	17978449	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr22:17978449A>G	uc010gqw.1	+	3	413	c.287A>G	c.(286-288)GAT>GGT	p.D96G	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	138					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TAGGGCCTGGATGCAGACAGT	0.483000												
CABIN1	23523	broad.mit.edu	37	22	24472130	24472130	+	Missense_Mutation	SNP	C	C	T	rs41310246	by1000genomes	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr22:24472130C>T	uc002zzi.1	+	19	2772	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	CABIN1_uc002zzj.1_Missense_Mutation_p.T832M|CABIN1_uc002zzl.1_Missense_Mutation_p.T882M	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	882					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ATGTCAGAGACGCCCATGCTC	0.592000												
RIBC2	26150	broad.mit.edu	37	22	45828195	45828195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr22:45828195C>T	uc011aqs.1	+	8	1296	c.1087C>T	c.(1087-1089)CAA>TAA	p.Q363*		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	295											0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTATACAAATCAACCCACGGG	0.328000												
TTLL3	26140	broad.mit.edu	37	3	9877073	9877073	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:9877073A>T	uc003btg.2	+	13	2435	c.2219A>T	c.(2218-2220)AAG>ATG	p.K740M	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	740					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					CCAAATAAAAAGAAACAAGTG	0.557000												
ZFYVE20	64145	broad.mit.edu	37	3	15116106	15116106	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:15116106T>G	uc003bzm.1	-	14	2152	c.1538A>C	c.(1537-1539)GAG>GCG	p.E513A	ZFYVE20_uc010hek.1_Missense_Mutation_p.E513A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	513	UIM.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTCCTCCTCCTCAGCCTGCCT	0.607000												
TRANK1	9881	broad.mit.edu	37	3	36888720	36888720	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:36888720A>G	uc003cgj.2	-	6	3525	c.3223T>C	c.(3223-3225)TCT>CCT	p.S1075P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1625					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						ACCATGAGAGATCGACCCTGA	0.453000												
TRANK1	9881	broad.mit.edu	37	3	36898084	36898084	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:36898084G>A	uc003cgj.2	-	3	1649	c.1347C>T	c.(1345-1347)GAC>GAT	p.D449D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	999					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGGCTGTCGTGTCATTGAGGA	0.532000												
KBTBD5	131377	broad.mit.edu	37	3	42727322	42727322	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:42727322A>G	uc003clv.1	+	1	312	c.212A>G	c.(211-213)GAG>GGG	p.E71G		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	71	BTB.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGCGCGGGCGAGCTGCACCTG	0.697000												
SNRK	54861	broad.mit.edu	37	3	43381977	43381977	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:43381977A>G	uc003cms.3	+	5	1262	c.930A>G	c.(928-930)CGA>CGG	p.R310R	SNRK_uc003cmt.3_Silent_p.R310R|SNRK_uc010hik.2_Silent_p.R310R|SNRK_uc011azr.1_Silent_p.R104R	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TAGCGGATCGAGACGCCATTG	0.488000												
PTPN23	25930	broad.mit.edu	37	3	47453892	47453892	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:47453892A>T	uc003crf.1	+	23	4394	c.4298A>T	c.(4297-4299)AAG>ATG	p.K1433M	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.K1303M|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1433	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAGAGAAAGCACATGCTG	0.637000												
DAG1	1605	broad.mit.edu	37	3	49570131	49570131	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:49570131A>G	uc003cxc.3	+	3	2605	c.2187A>G	c.(2185-2187)TCA>TCG	p.S729S		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	729	Extracellular (Potential).|Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGTGCCCTCAGAGGCGCCGC	0.587000												
GRM2	2912	broad.mit.edu	37	3	51752122	51752122	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:51752122G>A	uc010hlv.2	+	6	2852	c.2613G>A	c.(2611-2613)TCG>TCA	p.S871S	GRM2_uc003dbo.3_Silent_p.S253S|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	871	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAACGTCATCGCTTTGAAGAC	0.582000												
TLR9	54106	broad.mit.edu	37	3	52255383	52255383	+	Silent	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:52255383C>A	uc003dda.1	-	2	3583	c.2949G>T	c.(2947-2949)CTG>CTT	p.L983L	TLR9_uc003ddb.2_Silent_p.L1080L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	983	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCGCTGGCGCAGCCGCACGT	0.711000												
CHDH	55349	broad.mit.edu	37	3	53852074	53852074	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:53852074T>C	uc003dgz.2	-	9	1955	c.1515A>G	c.(1513-1515)AAA>AAG	p.K505K		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	505					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CGCTGTCGGCTTTTGCCCGCA	0.587000												
ASB14	142686	broad.mit.edu	37	3	57312815	57312815	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:57312815T>G	uc003diq.2	-	8	1117	c.529A>C	c.(529-531)AAC>CAC	p.N177H	ASB14_uc003dip.1_Missense_Mutation_p.N56H	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	341	ANK 8.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGCATGAAGTTCACATCAAAT	0.473000												
SLMAP	7871	broad.mit.edu	37	3	57898412	57898412	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:57898412A>C	uc003dje.1	+	18	2158	c.1953A>C	c.(1951-1953)GAA>GAC	p.E651D	SLMAP_uc003djd.1_Missense_Mutation_p.E634D|SLMAP_uc003djf.1_Missense_Mutation_p.E613D|SLMAP_uc003djg.1_Missense_Mutation_p.E245D|SLMAP_uc011bez.1_Missense_Mutation_p.E119D|SLMAP_uc011bfa.1_Missense_Mutation_p.E185D|SLMAP_uc003djh.2_Missense_Mutation_p.E144D|SLMAP_uc003dji.1_Missense_Mutation_p.E185D|SLMAP_uc011bfb.1_Missense_Mutation_p.E185D|SLMAP_uc011bfc.1_Missense_Mutation_p.E144D	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	651	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGAGAGAAGAAGCAACAAGGT	0.373000												
ACOX2	8309	broad.mit.edu	37	3	58512199	58512199	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:58512199A>C	uc003dkl.2	-	10	1515	c.1340T>G	c.(1339-1341)GTG>GGG	p.V447G		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	447					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTACCTGGCCACCTGCAGGTA	0.582000												
RYBP	23429	broad.mit.edu	37	3	72428498	72428498	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:72428498T>G	uc003dpe.2	-	2	326	c.209A>C	c.(208-210)AAG>ACG	p.K70T		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	80	Lys-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTTCTCCTTCTTCTCCTTTTT	0.403000												
ROBO2	6092	broad.mit.edu	37	3	77147286	77147286	+	Silent	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:77147286C>A	uc003dpy.3	+	2	826	c.183C>A	c.(181-183)ACC>ACA	p.T61T	ROBO2_uc003dpz.2_Silent_p.T61T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.T61T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	61	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACGCCCACCATTGAGTGGT	0.592000												
ROBO2	6092	broad.mit.edu	37	3	77623656	77623656	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:77623656C>G	uc003dpy.3	+	14	2621	c.1978C>G	c.(1978-1980)CGC>GGC	p.R660G	ROBO2_uc003dpz.2_Missense_Mutation_p.R664G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R664G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	660	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGGTTGATCGCCAACCCCA	0.428000												
CADM2	253559	broad.mit.edu	37	3	86114755	86114755	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:86114755A>G	uc003dqj.2	+	9	1690	c.1064A>G	c.(1063-1065)GAT>GGT	p.D355G	CADM2_uc003dqk.2_Missense_Mutation_p.D324G|CADM2_uc003dql.2_Missense_Mutation_p.D357G	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	355	Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCTTTTCCAGATCCTAATGCT	0.363000												
PROS1	5627	broad.mit.edu	37	3	93624914	93624914	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:93624914A>G	uc003drb.3	-	5	761	c.420T>C	c.(418-420)TCT>TCC	p.S140S	PROS1_uc010hoo.2_Silent_p.S9S|PROS1_uc003dqz.3_Silent_p.S9S	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	140	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGCAAGTAAAAGAAGCTTTTC	0.428000												
C3orf26	84319	broad.mit.edu	37	3	99897207	99897207	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:99897207A>G	uc003dtl.2	+	10	958	c.815A>G	c.(814-816)GAA>GGA	p.E272G		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	272							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						TGCAAGTCAGAATCCTTGAAA	0.388000												
RG9MTD1	54931	broad.mit.edu	37	3	101284689	101284689	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:101284689A>G	uc003duz.2	+	2	1212	c.1064A>G	c.(1063-1065)CAA>CGA	p.Q355R		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	355					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						ACCTTAGATCAAATGATACGT	0.378000												
MYH15	22989	broad.mit.edu	37	3	108179190	108179190	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:108179190C>T	uc003dxa.1	-	18	2006	c.1949G>A	c.(1948-1950)CGA>CAA	p.R650Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	650	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCCTTTCTTTCGTTTCTTCTC	0.274000												
PHLDB2	90102	broad.mit.edu	37	3	111603306	111603306	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:111603306T>A	uc010hqa.2	+	2	793	c.382T>A	c.(382-384)TTT>ATT	p.F128I	PHLDB2_uc003dyc.2_Missense_Mutation_p.F155I|PHLDB2_uc003dyd.2_Missense_Mutation_p.F128I|PHLDB2_uc003dyg.2_Missense_Mutation_p.F128I|PHLDB2_uc003dyh.2_Missense_Mutation_p.F128I|PHLDB2_uc003dye.3_Missense_Mutation_p.F128I|PHLDB2_uc003dyf.3_Missense_Mutation_p.F128I	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	128						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AAGAGCAGACTTTGATCATTA	0.438000												
KIAA1407	57577	broad.mit.edu	37	3	113753930	113753930	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:113753930T>G	uc003eax.2	-	6	807	c.660A>C	c.(658-660)AAA>AAC	p.K220N	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.K198N|KIAA1407_uc011bip.1_Missense_Mutation_p.K207N	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	220	Potential.									ovary(2)	2						AGGCCGATTTTTTCAGGGTCT	0.428000												
POLQ	10721	broad.mit.edu	37	3	121228492	121228492	+	Silent	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:121228492T>C	uc003eee.3	-	12	2004	c.1875A>G	c.(1873-1875)CCA>CCG	p.P625P		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	625					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAGTATCAGCTGGAGAAAGTG	0.393000								DNA_polymerases_(catalytic_subunits)				
CASR	846	broad.mit.edu	37	3	121981176	121981176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:121981176C>T	uc003eev.3	+	4	1666	c.1294C>T	c.(1294-1296)CAA>TAA	p.Q432*	CASR_uc003eew.3_Nonsense_Mutation_p.Q432*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	432	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACGCCTTGCAAGATATATA	0.478000												
WDR5B	54554	broad.mit.edu	37	3	122133940	122133940	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:122133940C>T	uc003efa.1	-	1	943	c.436G>A	c.(436-438)GAT>AAT	p.D146N		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	146	WD 3.									ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)		ACAGTCTCATCAAAAGATCCC	0.388000												
PARP14	54625	broad.mit.edu	37	3	122437724	122437724	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:122437724T>C	uc003efq.3	+	14	4785	c.4726T>C	c.(4726-4728)TAC>CAC	p.Y1576H	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Y1293H|PARP14_uc003efs.1_Missense_Mutation_p.Y1293H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1576	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		TCATCGGCACTACACAGTGAA	0.378000												
KALRN	8997	broad.mit.edu	37	3	124132335	124132335	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:124132335G>A	uc003ehg.2	+	14	2486	c.2359G>A	c.(2359-2361)GCC>ACC	p.A787T	KALRN_uc010hrv.1_Missense_Mutation_p.A787T|KALRN_uc003ehf.1_Missense_Mutation_p.A787T|KALRN_uc011bjy.1_Missense_Mutation_p.A787T|KALRN_uc003ehh.1_Missense_Mutation_p.A133T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	787					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						AGAGCTAGACGCCTGGAATGA	0.537000												
ZNF148	7707	broad.mit.edu	37	3	124952156	124952156	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:124952156T>C	uc003ehx.3	-	9	1900	c.1414A>G	c.(1414-1416)AAG>GAG	p.K472E	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.K472E|ZNF148_uc010hsa.2_Missense_Mutation_p.K472E|ZNF148_uc003eia.3_Missense_Mutation_p.K472E|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	472					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						CGCTTCTTCTTCAAAAACTGC	0.443000												
COL6A6	131873	broad.mit.edu	37	3	130340692	130340692	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:130340692G>T	uc010htl.2	+	23	4874	c.4843G>T	c.(4843-4845)GGG>TGG	p.G1615W	COL6A6_uc003eni.3_Translation_Start_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1615	Triple-helical region.				axon guidance|cell adhesion	collagen		p.E1613_G1615del(1)		ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGGAGAGGCAGGGAATCAAGG	0.428000												
COL6A6	131873	broad.mit.edu	37	3	130380597	130380597	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:130380597G>A	uc010htl.2	+	34	5978	c.5947G>A	c.(5947-5949)GAC>AAC	p.D1983N	COL6A6_uc003eni.3_Missense_Mutation_p.D82N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1983	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TGAATTTGAAGACATAAGAGC	0.522000												
NCK1	4690	broad.mit.edu	37	3	136664858	136664858	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:136664858T>G	uc003erh.2	+	3	767	c.660T>G	c.(658-660)ATT>ATG	p.I220M	NCK1_uc011bme.1_Missense_Mutation_p.I156M	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	220	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TGGATGTTATTGAAAAACCTG	0.388000												
PCOLCE2	26577	broad.mit.edu	37	3	142606588	142606588	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:142606588C>T	uc003evd.2	-	2	311	c.115G>A	c.(115-117)GGA>AGA	p.G39R		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	39	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CCAGACTCTCCAGTAAGAATG	0.363000												
SIAH2	6478	broad.mit.edu	37	3	150460290	150460290	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:150460290A>C	uc003eyi.2	-	2	1240	c.613T>G	c.(613-615)TTT>GTT	p.F205V		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	205	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTAGCTAGAAAGACGATGTCT	0.522000												
P2RY1	5028	broad.mit.edu	37	3	152554055	152554055	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:152554055C>T	uc003ezq.2	+	1	1320	c.484C>T	c.(484-486)CGG>TGG	p.R162W		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	162	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCCCTGGGCCGGCTCAAAAA	0.552000												
C3orf79	152118	broad.mit.edu	37	3	153203896	153203896	+	Splice_Site	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:153203896T>C	uc003ezt.2	+	2	285	c.223_splice	c.e2+2	p.G75_splice		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79												0						tgcaaccaggtaacttcattc	0.080000												
C3orf33	285315	broad.mit.edu	37	3	155481395	155481395	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:155481395C>T	uc003fal.1	-	6	937	c.667G>A	c.(667-669)GAA>AAA	p.E223K	C3orf33_uc003fam.1_Missense_Mutation_p.E266K	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	223							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCATATTTCATAAGTCCTT	0.323000												
B3GALNT1	8706	broad.mit.edu	37	3	160804463	160804463	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:160804463A>G	uc003fdv.2	-	5	499	c.80T>C	c.(79-81)CTC>CCC	p.L27P	B3GALNT1_uc003fdw.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fdx.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fdy.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fdz.2_Missense_Mutation_p.L27P|B3GALNT1_uc003fea.2_Missense_Mutation_p.L27P|B3GALNT1_uc011bpa.1_Missense_Mutation_p.L27P	NM_033169	NP_149359	O75752	B3GL1_HUMAN	UDP-Gal:betaGlcNAc beta	27	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GAAACTCAGGAGTGACAGCAG	0.512000												
ZBBX	79740	broad.mit.edu	37	3	167086288	167086288	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:167086288T>C	uc003fep.2	-	5	466	c.143A>G	c.(142-144)GAA>GGA	p.E48G	ZBBX_uc011bpc.1_Missense_Mutation_p.E48G|ZBBX_uc003feq.2_Missense_Mutation_p.E19G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	48	Potential.					intracellular	zinc ion binding			ovary(2)	2						GGATCGGAATTCTTGCAGTTT	0.328000												
TNIK	23043	broad.mit.edu	37	3	170784001	170784001	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:170784001T>G	uc003fhh.2	-	32	4319	c.3974A>C	c.(3973-3975)AAG>ACG	p.K1325T	TNIK_uc003fhi.2_Missense_Mutation_p.K1270T|TNIK_uc003fhj.2_Missense_Mutation_p.K1296T|TNIK_uc003fhk.2_Missense_Mutation_p.K1317T|TNIK_uc003fhl.2_Missense_Mutation_p.K1241T|TNIK_uc003fhm.2_Missense_Mutation_p.K1262T|TNIK_uc003fhn.2_Missense_Mutation_p.K1288T|TNIK_uc003fho.2_Missense_Mutation_p.K1233T|TNIK_uc003fhg.2_Missense_Mutation_p.K503T	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1325	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATAGAAACTTTAACCTTTG	0.393000												
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
ZNF639	51193	broad.mit.edu	37	3	179051248	179051248	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:179051248C>A	uc003fjq.1	+	6	839	c.496C>A	c.(496-498)CAA>AAA	p.Q166K	ZNF639_uc003fjr.1_Missense_Mutation_p.Q166K	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	166					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCTCCAAGACCAAACTGATGA	0.418000												
TTC14	151613	broad.mit.edu	37	3	180328303	180328303	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:180328303A>C	uc003fkk.2	+	12	2418	c.2286A>C	c.(2284-2286)AAA>AAC	p.K762N	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	762							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AATTTGAAAAAGAAAAAGGAA	0.299000												
CLCN2	1181	broad.mit.edu	37	3	184075422	184075422	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:184075422G>A	uc003foi.2	-	7	882	c.758C>T	c.(757-759)GCG>GTG	p.A253V	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A253V|CLCN2_uc011brl.1_Missense_Mutation_p.A253V|CLCN2_uc011brm.1_Missense_Mutation_p.A209V|CLCN2_uc011brn.1_Missense_Mutation_p.A253V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	253						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AATAGGTGCCGCGAAGCAGCA	0.642000												
EPHB3	2049	broad.mit.edu	37	3	184295588	184295588	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:184295588A>G	uc003foz.2	+	7	2059	c.1622A>G	c.(1621-1623)GAG>GGG	p.E541G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	541	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCGAGTTTGAGACCACAAGT	0.642000												
AHSG	197	broad.mit.edu	37	3	186338625	186338625	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:186338625G>A	uc003fqk.3	+	7	1091	c.1010G>A	c.(1009-1011)CGG>CAG	p.R337Q	AHSG_uc003fql.3_Missense_Mutation_p.R338Q|AHSG_uc003fqm.3_Missense_Mutation_p.R336Q|AHSG_uc010hyp.2_Missense_Mutation_p.R300Q	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	337					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCGCACCCCCGGAAAACACGC	0.607000												
MUC4	4585	broad.mit.edu	37	3	195501076	195501076	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:195501076G>A	uc011bto.1	-	5	13120	c.12660C>T	c.(12658-12660)TTC>TTT	p.F4220F	MUC4_uc003fuz.2_Missense_Mutation_p.S28F|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Silent_p.F89F|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.F89F|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.F112F|MUC4_uc003fvp.2_Silent_p.F61F|MUC4_uc010hzu.1_Silent_p.F960F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1105					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCAAGGGGGAAGCCAGTCG	0.652000												
MUC4	4585	broad.mit.edu	37	3	195517394	195517394	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:195517394A>C	uc011bto.1	-	2	1517	c.1057T>G	c.(1057-1059)TTA>GTA	p.L353V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.L235V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	358					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGAGGATAAAACAGTTGAT	0.473000												
WDR53	348793	broad.mit.edu	37	3	196281389	196281389	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr3:196281389A>C	uc003fwt.2	-	4	1241	c.770T>G	c.(769-771)CTT>CGT	p.L257R		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	257	WD 5.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCCTCCAGTAAGCAGCAAATA	0.473000												
ZNF721	170960	broad.mit.edu	37	4	435590	435590	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:435590C>T	uc003gag.2	-	3	3357	c.2666G>A	c.(2665-2667)GGA>GAA	p.G889E	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G921E|ZNF721_uc010ibe.2_Missense_Mutation_p.G877E	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	889						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GGGTTTCTCTCCAGTATGAAT	0.388000												
PIGG	54872	broad.mit.edu	37	4	533039	533039	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:533039T>G	uc003gak.3	+	13	2969	c.2833T>G	c.(2833-2835)TTA>GTA	p.L945V	PIGG_uc003gaj.3_Missense_Mutation_p.L937V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.L812V|PIGG_uc003gal.3_Missense_Mutation_p.L856V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	945					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GCGTTATCATTTATTTATATG	0.423000												
HAUS3	79441	broad.mit.edu	37	4	2240726	2240726	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:2240726G>A	uc003ges.1	-	3	1184	c.954C>T	c.(952-954)ACC>ACT	p.T318T	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Silent_p.T318T|HAUS3_uc003get.1_Silent_p.T318T	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	318	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TAATCTCACTGGTCAAGCTAG	0.348000												
SLC2A9	56606	broad.mit.edu	37	4	9909888	9909888	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:9909888C>T	uc003gmc.2	-	8	1145	c.1084G>A	c.(1084-1086)GGC>AGC	p.G362S	SLC2A9_uc003gmd.2_Missense_Mutation_p.G333S	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	362	Helical; Name=8; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GTCTCGATGCCCCCTGTACTC	0.483000												
PPARGC1A	10891	broad.mit.edu	37	4	23815666	23815666	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:23815666C>T	uc003gqs.2	-	8	1560	c.1440G>A	c.(1438-1440)AAG>AAA	p.K480K	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	480					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTTCACCGGTCTTGTCTGCTT	0.463000												
CLOCK	9575	broad.mit.edu	37	4	56310904	56310904	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:56310904A>C	uc003haz.1	-	20	2514	c.1588T>G	c.(1588-1590)TTG>GTG	p.L530V	CLOCK_uc003hba.1_Missense_Mutation_p.L530V|CLOCK_uc010igu.1_RNA	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	530	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CGTTGTTCCAATTGGTCTTTC	0.383000												
CLOCK	9575	broad.mit.edu	37	4	56319950	56319950	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:56319950G>A	uc003haz.1	-	15	1950	c.1024C>T	c.(1024-1026)CTG>TTG	p.L342L	CLOCK_uc003hba.1_Silent_p.L342L	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	342	PAC.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CCCTTAGTCAGGAACCTATAA	0.313000												
EPHA5	2044	broad.mit.edu	37	4	66467875	66467875	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:66467875A>G	uc003hcy.2	-	3	587	c.394T>C	c.(394-396)TTT>CTT	p.F132L	EPHA5_uc003hcx.2_Missense_Mutation_p.F63L|EPHA5_uc003hcz.2_Missense_Mutation_p.F132L|EPHA5_uc011cah.1_Missense_Mutation_p.F132L|EPHA5_uc011cai.1_Missense_Mutation_p.F132L|EPHA5_uc003hda.2_Missense_Mutation_p.F132L	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	132	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CGCAGGGTAAATTTGAGTTCT	0.423000										TSP Lung(17;0.13)		
RUFY3	22902	broad.mit.edu	37	4	71640928	71640928	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:71640928G>A	uc003hfq.2	+	7	1397	c.802G>A	c.(802-804)GAA>AAA	p.E268K	RUFY3_uc003hfp.3_Missense_Mutation_p.E328K|RUFY3_uc011cax.1_Missense_Mutation_p.E286K|RUFY3_uc003hfr.2_Missense_Mutation_p.E268K|RUFY3_uc011cay.1_Missense_Mutation_p.E204K	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	268	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GAACTATGTAGAAGAACTGAA	0.358000												
HERC3	8916	broad.mit.edu	37	4	89588548	89588548	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:89588548C>T	uc003hrw.1	+	13	1518	c.1352C>T	c.(1351-1353)ACG>ATG	p.T451M	HERC3_uc011cdn.1_Missense_Mutation_p.T333M|HERC3_uc011cdo.1_Translation_Start_Site	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	451					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CATTTTAAAACGAGTCCCAAA	0.318000												
NHEDC2	133308	broad.mit.edu	37	4	103988638	103988638	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:103988638A>C	uc003hwx.3	-	2	942	c.70T>G	c.(70-72)TCC>GCC	p.S24A	NHEDC2_uc003hwy.2_Missense_Mutation_p.S24A|NHEDC2_uc011cew.1_Missense_Mutation_p.S24A|NHEDC2_uc011cex.1_Missense_Mutation_p.S24A|NHEDC2_uc011cey.1_Missense_Mutation_p.S24A	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	24					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		TGATGCATGGAGGGCGTGTAA	0.363000												
NDST4	64579	broad.mit.edu	37	4	115767007	115767007	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:115767007G>A	uc003ibu.2	-	10	2766	c.2087C>T	c.(2086-2088)CCC>CTC	p.P696L	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	696	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTGTCTGAGGGGTCAATGAG	0.428000												
BBS7	55212	broad.mit.edu	37	4	122754405	122754405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:122754405G>A	uc003ied.2	-	15	1831	c.1657C>T	c.(1657-1659)CAA>TAA	p.Q553*	BBS7_uc003iee.1_Nonsense_Mutation_p.Q553*	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	553					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CTTTCAAGTTGTGTATCTAGA	0.358000									Bardet-Biedl_syndrome			
SLC25A31	83447	broad.mit.edu	37	4	128694699	128694699	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:128694699A>C	uc003ifl.2	+	6	1064	c.918A>C	c.(916-918)GAA>GAC	p.E306D		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	306	Solcar 3.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						AAATTAAAGAATTCTTTCATA	0.358000												
GUCY1A3	2982	broad.mit.edu	37	4	156634545	156634545	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:156634545A>C	uc003iov.2	+	8	1918	c.1382A>C	c.(1381-1383)GAG>GCG	p.E461A	GUCY1A3_uc010iqc.2_Missense_Mutation_p.E461A|GUCY1A3_uc003iow.2_Missense_Mutation_p.E461A|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E460A|GUCY1A3_uc003iox.2_Missense_Mutation_p.E461A|GUCY1A3_uc003ioz.2_Missense_Mutation_p.E226A|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E461A|GUCY1A3_uc010iqe.2_Missense_Mutation_p.E226A|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E461A	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	461					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTCCCTGTGAGGTTGCTCAG	0.527000												
FAT1	2195	broad.mit.edu	37	4	187629762	187629762	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:187629762C>T	uc003izf.2	-	2	1408	c.1220G>A	c.(1219-1221)GGA>GAA	p.G407E	FAT1_uc010iso.1_Missense_Mutation_p.G407E	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	407	Extracellular (Potential).|Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTAGCTTTTCCAGGTGTACT	0.378000										HNSCC(5;0.00058)		
CTNND2	1501	broad.mit.edu	37	5	11732288	11732288	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:11732288G>A	uc003jfa.1	-	2	279	c.134C>T	c.(133-135)ACA>ATA	p.T45I	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	45					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GGTGGTTTCTGTTTCAGAGCC	0.483000												
DNAH5	1767	broad.mit.edu	37	5	13864542	13864542	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:13864542C>T	uc003jfd.2	-	28	4602	c.4560G>A	c.(4558-4560)ATG>ATA	p.M1520I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1520	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GAGGTGCCTCCATGATATTTC	0.418000									Kartagener_syndrome			
FAM105A	54491	broad.mit.edu	37	5	14601526	14601526	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:14601526C>T	uc003jfj.2	+	4	436	c.323C>T	c.(322-324)ACA>ATA	p.T108I		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	108										ovary(1)	1	Lung NSC(4;0.00592)					AAAGGAGAGACACCCCGTAAC	0.413000												
RXFP3	51289	broad.mit.edu	37	5	33937024	33937024	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:33937024C>T	uc003jic.1	+	1	536	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGACGGCGCGCCGCCAGGA	0.701000												
PRLR	5618	broad.mit.edu	37	5	35068965	35068965	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:35068965T>C	uc003jjm.2	-	8	1231	c.701A>G	c.(700-702)GAT>GGT	p.D234G	PRLR_uc003jjg.1_Missense_Mutation_p.D234G|PRLR_uc003jjh.1_Missense_Mutation_p.D234G|PRLR_uc003jji.1_Missense_Mutation_p.D163G|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.D133G|PRLR_uc010iuw.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	234	Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CACGGTTGTATCATTCATGGT	0.408000												
ADAMTS6	11174	broad.mit.edu	37	5	64511238	64511238	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:64511238A>G	uc003jtp.2	-	19	3163	c.2349T>C	c.(2347-2349)GCT>GCC	p.A783A	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.A404A	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	783	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGCTGTCCCAGCAACATCAA	0.398000												
BDP1	55814	broad.mit.edu	37	5	70805419	70805419	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:70805419C>A	uc003kbp.1	+	17	2763	c.2500C>A	c.(2500-2502)CTA>ATA	p.L834I	BDP1_uc003kbn.1_Missense_Mutation_p.L834I|BDP1_uc003kbo.2_Missense_Mutation_p.L834I	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	834	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|1; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGAAGAGGTACTAGAGAAGAT	0.428000												
HEXB	3074	broad.mit.edu	37	5	74001088	74001088	+	Silent	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:74001088A>T	uc003kdf.3	+	6	831	c.714A>T	c.(712-714)ATA>ATT	p.I238I	HEXB_uc003kdd.2_Silent_p.I13I|HEXB_uc003kde.2_Silent_p.I238I|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	238					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		ACTGGCACATAGTTGATGACC	0.328000												
DMGDH	29958	broad.mit.edu	37	5	78324391	78324391	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:78324391C>A	uc003kfs.2	-	12	1903	c.1897G>T	c.(1897-1899)GCT>TCT	p.A633S	DMGDH_uc011cte.1_Missense_Mutation_p.A483S|DMGDH_uc011ctf.1_Missense_Mutation_p.A432S|DMGDH_uc011ctg.1_Missense_Mutation_p.A253S	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	633					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGTGGCCCAGCAACTCCAAGA	0.393000												
GPR98	84059	broad.mit.edu	37	5	90124912	90124912	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:90124912C>T	uc003kju.2	+	77	16616	c.16520C>T	c.(16519-16521)GCA>GTA	p.A5507V	GPR98_uc003kjt.2_Missense_Mutation_p.A3213V|GPR98_uc003kjw.2_Missense_Mutation_p.A1168V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5507	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTCGGCTGGCAGTGGCTCAC	0.448000												
SLCO4C1	353189	broad.mit.edu	37	5	101593661	101593661	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:101593661G>A	uc003knm.2	-	7	1546	c.1259C>T	c.(1258-1260)GCA>GTA	p.A420V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	420	Helical; Name=8; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGAGTAGCTGCGAAGCTGGA	0.299000												
YTHDC2	64848	broad.mit.edu	37	5	112917175	112917175	+	Missense_Mutation	SNP	G	G	A	rs116542037	by1000genomes	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:112917175G>A	uc003kqn.2	+	25	3599	c.3416G>A	c.(3415-3417)AGA>AAA	p.R1139K		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1139							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CGCCGAATGAGAGCTCCATCT	0.393000												
PCDHA1	56147	broad.mit.edu	37	5	140167731	140167731	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140167731G>A	uc003lhb.2	+	1	1856	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R619H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGCGCGCATCCCGTTC	0.667000												
PCDHB7	56129	broad.mit.edu	37	5	140553975	140553975	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140553975A>G	uc003lit.2	+	1	1733	c.1559A>G	c.(1558-1560)GAC>GGC	p.D520G		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	520	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCCCTGGACTACGAGGCC	0.701000												
PCDHGA2	56113	broad.mit.edu	37	5	140720519	140720519	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140720519A>G	uc003ljk.1	+	1	2166	c.1981A>G	c.(1981-1983)ACC>GCC	p.T661A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T661A	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	661	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)			TGTCACGCTCACCGTGGCCGT	0.682000												
PCDHGA2	56113	broad.mit.edu	37	5	140720559	140720559	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140720559A>G	uc003ljk.1	+	1	2206	c.2021A>G	c.(2020-2022)GAC>GGC	p.D674G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D674G	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	674	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)			ATCCTGGCCGACCTGGGCAGC	0.687000												
PCDHGA3	56112	broad.mit.edu	37	5	140724034	140724034	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140724034T>C	uc003ljm.1	+	1	434	c.434T>C	c.(433-435)CTA>CCA	p.L145P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.L145P	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	145	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGTGAACTAACGGTTCCT	0.348000												
PCDHGB3	56102	broad.mit.edu	37	5	140751700	140751700	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:140751700G>A	uc003ljw.1	+	1	1739	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R580H|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	580	Extracellular (Potential).|Cadherin 6.				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)			ATGGTGCCGCGCTCTGCAGAG	0.642000												
FAT2	2196	broad.mit.edu	37	5	150901495	150901495	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:150901495G>A	uc003lue.3	-	18	10672	c.10659C>T	c.(10657-10659)ATC>ATT	p.I3553I	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.I246I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3553	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCATGGATCTTACCCA	0.572000												
OR2Y1	134083	broad.mit.edu	37	5	180166564	180166564	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:180166564G>A	uc003mmf.1	-	1	495	c.495C>T	c.(493-495)GCC>GCT	p.A165A		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGGCATGGCCATTGCGA	0.547000												
GNB2L1	10399	broad.mit.edu	37	5	180665127	180665127	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:180665127G>A	uc003mni.1	-	6	855	c.749C>T	c.(748-750)GCT>GTT	p.A250V	GNB2L1_uc003mnh.1_Missense_Mutation_p.A209V|GNB2L1_uc003mnk.1_Missense_Mutation_p.A172V|GNB2L1_uc003mnj.1_Missense_Mutation_p.A204V|GNB2L1_uc003mnl.1_Missense_Mutation_p.A34V	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	250	WD 6.				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCTGTGGCAGCACACAGCCA	0.512000												
FOXC1	2296	broad.mit.edu	37	6	1611204	1611204	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:1611204A>C	uc003mtp.2	+	1	524	c.524A>C	c.(523-525)AAG>ACG	p.K175T		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	175					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGGCGCTTCAAGAAGAAGGAC	0.493000												
F13A1	2162	broad.mit.edu	37	6	6174920	6174920	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:6174920C>T	uc003mwv.2	-	12	1763	c.1640G>A	c.(1639-1641)CGT>CAT	p.R547H	F13A1_uc011dib.1_Missense_Mutation_p.R484H	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	547					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGTGTAACGGTTGTGGCT	0.507000												
SYCP2L	221711	broad.mit.edu	37	6	10907896	10907896	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:10907896T>G	uc003mzo.2	+	10	1094	c.798T>G	c.(796-798)ATT>ATG	p.I266M	SYCP2L_uc011din.1_Missense_Mutation_p.I107M|SYCP2L_uc010jow.2_Translation_Start_Site	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	266						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAAAGAAATTAAGGATCGAG	0.393000												
HIST1H4H	8365	broad.mit.edu	37	6	26285499	26285499	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:26285499C>T	uc003nhm.2	-	1	229	c.229G>A	c.(229-231)GCC>ACC	p.A77T	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	77				A -> P (in Ref. 11; CAG46986).	CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						TTGCGTTTGGCGTGCTCTGTG	0.537000										HNSCC(76;0.23)		
PGBD1	84547	broad.mit.edu	37	6	28269472	28269472	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:28269472T>A	uc003nky.2	+	7	2211	c.1841T>A	c.(1840-1842)CTT>CAT	p.L614H	PGBD1_uc003nkz.2_Missense_Mutation_p.L614H	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	614					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GCTGATGTTCTTTTAGAGAGA	0.413000												
MDC1	9656	broad.mit.edu	37	6	30671627	30671627	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:30671627A>C	uc003nrg.3	-	10	5773	c.5333T>G	c.(5332-5334)CTT>CGT	p.L1778R	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.L1385R	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1778	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGTCTCAAGAAGCTGGGGAGA	0.557000								Other_conserved_DNA_damage_response_genes				
C6orf10	10665	broad.mit.edu	37	6	32261435	32261435	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:32261435T>G	uc011dpy.1	-	12	1188	c.1015A>C	c.(1015-1017)AAG>CAG	p.K339Q	C6orf10_uc011dpx.1_Missense_Mutation_p.K121Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	339						integral to membrane				skin(1)	1						TCACTCTTCTTTACTTGGGAC	0.458000												
HLA-DOA	3111	broad.mit.edu	37	6	32974922	32974922	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:32974922G>A	uc003ocr.2	-	4	760	c.684C>T	c.(682-684)GGC>GGT	p.G228G	HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	228	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						AGCCCACCAGGCCGATGGCCA	0.627000												
MDGA1	266727	broad.mit.edu	37	6	37626122	37626122	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:37626122C>T	uc003onu.1	-	3	1460	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	94	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						ACGCTCGATGCGCAGCGTCTC	0.657000												
DNAH8	1769	broad.mit.edu	37	6	38877485	38877485	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:38877485C>T	uc003ooe.1	+	63	9654	c.9054C>T	c.(9052-9054)GAC>GAT	p.D3018D	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGTTTCATGACATGGTTTCAG	0.398000												
DNAH8	1769	broad.mit.edu	37	6	38906676	38906676	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:38906676C>T	uc003ooe.1	+	77	11868	c.11268C>T	c.(11266-11268)CAC>CAT	p.H3756H	DNAH8_uc003oog.1_Silent_p.H205H|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ACGAAAACCACAAATTCCTGT	0.383000												
SPATS1	221409	broad.mit.edu	37	6	44320470	44320470	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:44320470T>G	uc003oxk.2	+	2	494	c.147T>G	c.(145-147)AAT>AAG	p.N49K	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Intron	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	49										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCTAATTGCAGTGATT	0.348000												
TDRD6	221400	broad.mit.edu	37	6	46656373	46656373	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:46656373G>A	uc003oyj.2	+	1	508	c.508G>A	c.(508-510)GTC>ATC	p.V170I	TDRD6_uc010jze.2_Missense_Mutation_p.V164I	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	170					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GCACGGGTGCGTCCTGGACGT	0.701000												
TDRD6	221400	broad.mit.edu	37	6	46658380	46658380	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:46658380A>G	uc003oyj.2	+	1	2515	c.2515A>G	c.(2515-2517)AGT>GGT	p.S839G	TDRD6_uc010jze.2_Missense_Mutation_p.S833G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	839	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AGCACTTATTAGTGGGATACA	0.388000												
LGSN	51557	broad.mit.edu	37	6	63990680	63990680	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:63990680G>A	uc003peh.2	-	4	810	c.776C>T	c.(775-777)TCC>TTC	p.S259F	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	CCTGGTAGAGGAGGAAAAACT	0.433000												
LMBRD1	55788	broad.mit.edu	37	6	70409038	70409038	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:70409038A>C	uc003pfa.2	-	13	1350	c.1235T>G	c.(1234-1236)TTT>TGT	p.F412C	LMBRD1_uc003pey.2_Missense_Mutation_p.F208C|LMBRD1_uc003pez.2_Missense_Mutation_p.F339C|LMBRD1_uc010kal.2_Missense_Mutation_p.F339C|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	412	Helical; Name=8; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						CATGCAGAGAAAAAGGAGTGC	0.338000												
RIMS1	22999	broad.mit.edu	37	6	72967833	72967833	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:72967833T>C	uc003pga.2	+	17	2853	c.2776T>C	c.(2776-2778)TAT>CAT	p.Y926H	RIMS1_uc011dyb.1_Missense_Mutation_p.Y551H|RIMS1_uc003pgc.2_Missense_Mutation_p.Y552H|RIMS1_uc010kaq.2_Missense_Mutation_p.Y399H|RIMS1_uc011dyc.1_Missense_Mutation_p.Y400H|RIMS1_uc010kar.2_Missense_Mutation_p.Y319H|RIMS1_uc011dyd.1_Missense_Mutation_p.Y385H|RIMS1_uc003pgf.2_Missense_Mutation_p.Y142H|RIMS1_uc003pgg.2_Missense_Mutation_p.Y143H|RIMS1_uc003pgi.2_Missense_Mutation_p.Y142H|RIMS1_uc003pgh.2_Missense_Mutation_p.Y142H|RIMS1_uc003pgd.2_Missense_Mutation_p.Y143H|RIMS1_uc003pge.2_Missense_Mutation_p.Y143H|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.Y552H|RIMS1_uc010kas.1_Missense_Mutation_p.Y385H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	926					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCAGTAGGCTATAGGTCTAG	0.373000												
C6orf167	253714	broad.mit.edu	37	6	97609879	97609879	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:97609879T>G	uc003ppb.2	-	22	3650	c.3384A>C	c.(3382-3384)CAA>CAC	p.Q1128H	C6orf167_uc011eaf.1_Missense_Mutation_p.Q1088H	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1128					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CAAACAAACCTTGTGGTTCAC	0.333000												
SFRS18	25957	broad.mit.edu	37	6	99849296	99849296	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:99849296G>A	uc003ppo.3	-	12	1766	c.1538C>T	c.(1537-1539)TCT>TTT	p.S513F	SFRS18_uc003ppl.2_Missense_Mutation_p.S59F|SFRS18_uc003ppp.3_Missense_Mutation_p.S513F|SFRS18_uc011eag.1_Missense_Mutation_p.S513F	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	513	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		accactactaGAACTTCCCGA	0.284000												
LIN28B	389421	broad.mit.edu	37	6	105526496	105526496	+	Silent	SNP	C	C	T	rs141067774	byFrequency	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:105526496C>T	uc003pqv.1	+	4	794	c.591C>T	c.(589-591)GGC>GGT	p.G197G	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	197					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAGTGGGAGGCGGGCATGGCT	0.557000												
SLC22A16	85413	broad.mit.edu	37	6	110777963	110777963	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:110777963T>G	uc003puf.2	-	2	378	c.311A>C	c.(310-312)AAT>ACT	p.N104T	SLC22A16_uc003pue.2_Missense_Mutation_p.N85T|SLC22A16_uc003pug.2_Missense_Mutation_p.N104T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	104					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCCCTCTTATTCCTGCTACA	0.473000												
HINT3	135114	broad.mit.edu	37	6	126288037	126288037	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:126288037A>T	uc003qal.3	+	2	469	c.206A>T	c.(205-207)GAG>GTG	p.E69V	HINT3_uc010keu.2_5'UTR	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	69	HIT.					mitochondrion|nucleolus	hydrolase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CTTTAGAATGAGGACCTAATT	0.338000												
RBAK	57786	broad.mit.edu	37	7	5104689	5104689	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:5104689A>T	uc010kss.1	+	6	1926	c.1602A>T	c.(1600-1602)AAA>AAT	p.K534N	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.K534N	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	534	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CACTTCCAAAAGGGGAGAAAT	0.368000												
RAC1	5879	broad.mit.edu	37	7	6442041	6442041	+	Silent	SNP	C	C	T	rs144238799	byFrequency	TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:6442041C>T	uc003spx.2	+	6	784	c.543C>T	c.(541-543)CCC>CCT	p.P181P	RAC1_uc003spw.2_Silent_p.P200P	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	181					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GCCCGCCTCCCGTGAAGAAGA	0.522000												
RPA3	6119	broad.mit.edu	37	7	7676645	7676645	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:7676645C>T	uc003sri.2	-	8	1524	c.352G>A	c.(352-354)GTG>ATG	p.V118M	RPA3_uc003srh.2_Missense_Mutation_p.V79M	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	118					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TCATGTTGCACAATCCCTAAA	0.333000								Direct_reversal_of_damage|NER				
TMEM195	392636	broad.mit.edu	37	7	15427074	15427074	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:15427074C>T	uc003stb.1	-	9	1084	c.914G>A	c.(913-915)GGT>GAT	p.G305D		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	305					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TTTACCTGGACCCCATCCCGG	0.388000												
DNAH11	8701	broad.mit.edu	37	7	21751479	21751479	+	Splice_Site	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:21751479G>A	uc003svc.2	+	43	7035	c.7004_splice	c.e43+1	p.P2335_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCTGGAATCCGTGAGTATTTC	0.274000									Kartagener_syndrome			
HOXA6	3203	broad.mit.edu	37	7	27187000	27187000	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:27187000G>A	uc003syo.1	-	1	369	c.369C>T	c.(367-369)CTC>CTT	p.L123L	uc003syp.1_Missense_Mutation_p.G28E|HOXA6_uc003syq.1_RNA	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CTTCGTCATGGAGTGCTTTGC	0.622000												
CRHR2	1395	broad.mit.edu	37	7	30695305	30695305	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:30695305A>G	uc003tbn.2	-	10	1188	c.944T>C	c.(943-945)CTC>CCC	p.L315P	CRHR2_uc010kvw.1_Missense_Mutation_p.L315P|CRHR2_uc010kvx.1_Missense_Mutation_p.L314P|CRHR2_uc010kvy.1_Missense_Mutation_p.L151P|CRHR2_uc003tbo.2_Missense_Mutation_p.L301P|CRHR2_uc003tbp.2_Missense_Mutation_p.L342P	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	315	Helical; Name=6; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						GAGGGGCAGGAGCACCAGGGT	0.617000												
HERPUD2	64224	broad.mit.edu	37	7	35674016	35674016	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:35674016A>C	uc003tet.2	-	7	1770	c.965T>G	c.(964-966)TTT>TGT	p.F322C	HERPUD2_uc003tes.3_Missense_Mutation_p.F322C	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	322	Helical; (Potential).				response to unfolded protein	integral to membrane				ovary(3)	3						TTCTTGCCTAAAAGGAAACCA	0.348000												
AOAH	313	broad.mit.edu	37	7	36580049	36580049	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:36580049G>A	uc003tfh.3	-	16	1583	c.1182C>T	c.(1180-1182)TCC>TCT	p.S394S	AOAH_uc010kxf.2_Silent_p.S394S|AOAH_uc011kba.1_Silent_p.S362S	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	394					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GCATGACGTTGGAGTAGAGTT	0.443000												
ZMIZ2	83637	broad.mit.edu	37	7	44801066	44801066	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:44801066A>G	uc003tlr.2	+	10	1382	c.1259A>G	c.(1258-1260)GAG>GGG	p.E420G	ZMIZ2_uc003tlq.2_Missense_Mutation_p.E362G|ZMIZ2_uc003tls.2_Missense_Mutation_p.E394G|ZMIZ2_uc003tlt.2_Missense_Mutation_p.E43G|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	420					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCTTGTGACGAGTTGCGGCTG	0.647000												
PION	54103	broad.mit.edu	37	7	76941425	76941425	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:76941425T>C	uc003ugf.2	-	29	2445	c.2366A>G	c.(2365-2367)AAG>AGG	p.K789R	PION_uc011kgo.1_Missense_Mutation_p.K110R|PION_uc003ugd.2_Missense_Mutation_p.K183R	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	789					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CACCTGTTTCTTATAGTTCTG	0.408000												
PCLO	27445	broad.mit.edu	37	7	82474775	82474775	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:82474775C>T	uc003uhx.2	-	13	14147	c.13858G>A	c.(13858-13860)GAT>AAT	p.D4620N	PCLO_uc003uhv.2_Missense_Mutation_p.D4620N|PCLO_uc003uht.1_Missense_Mutation_p.D71N|PCLO_uc003uhu.1_Missense_Mutation_p.D50N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4508					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGCTTAGGATCAACCCCTGGG	0.423000												
ABCB1	5243	broad.mit.edu	37	7	87179266	87179266	+	Silent	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:87179266A>C	uc003uiz.1	-	14	1873	c.1455T>G	c.(1453-1455)GCT>GCG	p.A485A	ABCB1_uc011khc.1_Silent_p.A421A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	485	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GAATGTTTTCAGCTATCGTGG	0.433000												
FZD1	8321	broad.mit.edu	37	7	90895500	90895500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:90895500G>A	uc003ula.2	+	1	1718	c.1305G>A	c.(1303-1305)TGG>TGA	p.W435*		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	435	Cytoplasmic (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCATGAAGTGGGGCCACGAGG	0.607000												
SAMD9L	219285	broad.mit.edu	37	7	92763078	92763078	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:92763078A>C	uc003umh.1	-	5	3423	c.2207T>G	c.(2206-2208)ATC>AGC	p.I736S	SAMD9L_uc003umj.1_Missense_Mutation_p.I736S|SAMD9L_uc003umi.1_Missense_Mutation_p.I736S|SAMD9L_uc010lfb.1_Missense_Mutation_p.I736S|SAMD9L_uc003umk.1_Missense_Mutation_p.I736S|SAMD9L_uc010lfc.1_Missense_Mutation_p.I736S|SAMD9L_uc010lfd.1_Missense_Mutation_p.I736S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	736										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGATTGATGATTTTTGCAAA	0.363000												
RELN	5649	broad.mit.edu	37	7	103183254	103183254	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:103183254T>C	uc003vca.2	-	43	6755	c.6595A>G	c.(6595-6597)AGT>GGT	p.S2199G	RELN_uc010liz.2_Missense_Mutation_p.S2199G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2199					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTTCCACTAGAAAGGATT	0.378000												
CDHR3	222256	broad.mit.edu	37	7	105615310	105615310	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:105615310A>C	uc003vdl.3	+	2	175	c.67A>C	c.(67-69)ATC>CTC	p.I23L	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Intron|CDHR3_uc011klt.1_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	23	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						ACTACACCTAATCCTCTTACC	0.473000												
CDHR3	222256	broad.mit.edu	37	7	105673077	105673077	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:105673077C>T	uc003vdl.3	+	19	2700	c.2592C>T	c.(2590-2592)GGC>GGT	p.G864G	CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Silent_p.G851G|CDHR3_uc011klt.1_Silent_p.G776G|CDHR3_uc003vdn.2_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	864	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCAAGCTGGGCAACCCAAAGA	0.542000												
ST7	7982	broad.mit.edu	37	7	116759770	116759770	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:116759770C>T	uc003vin.2	+	3	604	c.390C>T	c.(388-390)GTC>GTT	p.V130V	ST7_uc011knl.1_Silent_p.V130V|ST7_uc003vio.2_Silent_p.V130V|ST7_uc003viq.2_Silent_p.V84V|ST7_uc011knm.1_Silent_p.V87V|ST7_uc003vir.2_Silent_p.V78V|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Silent_p.V78V|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	130						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCAAAGTGTCTCAGGTATGG	0.373000												
RNF148	378925	broad.mit.edu	37	7	122342678	122342678	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:122342678T>G	uc003vkk.1	-	1	344	c.127A>C	c.(127-129)AAT>CAT	p.N43H	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.N43H	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	43						integral to membrane	zinc ion binding				0						AATGTTATATTCAGGTGAGCT	0.443000												
FLNC	2318	broad.mit.edu	37	7	128470736	128470736	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:128470736C>T	uc003vnz.3	+	1	254	c.45C>T	c.(43-45)GGC>GGT	p.G15G	FLNC_uc003voa.3_Silent_p.G15G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	15	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGGCCTGGGCGATGAGACAG	0.468000												
WDR91	29062	broad.mit.edu	37	7	134890686	134890686	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:134890686G>A	uc003vsp.2	-	5	781	c.719C>T	c.(718-720)TCG>TTG	p.S240L	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	240										breast(2)|ovary(1)|skin(1)	4						TCACAGTTCCGAGTCCCCCAG	0.552000												
DENND2A	27147	broad.mit.edu	37	7	140285447	140285447	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:140285447T>G	uc010lnj.2	-	3	1332	c.1187A>C	c.(1186-1188)AAG>ACG	p.K396T	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.K396T|DENND2A_uc003vvw.2_Missense_Mutation_p.K396T|DENND2A_uc003vvx.2_Missense_Mutation_p.K396T	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	396										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CAAGACACACTTCTTTCCCAG	0.522000												
ZNF282	8427	broad.mit.edu	37	7	148903882	148903882	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr7:148903882T>C	uc003wfm.2	+	3	785	c.680T>C	c.(679-681)GTT>GCT	p.V227A	ZNF282_uc011kun.1_Missense_Mutation_p.V227A|ZNF282_uc003wfn.2_Missense_Mutation_p.V167A|ZNF282_uc003wfo.2_Missense_Mutation_p.V167A	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	227	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AACAACCTTGTTAAGGAGAAC	0.463000												
MYOM2	9172	broad.mit.edu	37	8	2092696	2092696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:2092696C>T	uc003wpx.3	+	37	4327	c.4189C>T	c.(4189-4191)CAG>TAG	p.Q1397*	MYOM2_uc011kwi.1_Nonsense_Mutation_p.Q822*	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1397	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGGTGGAGCAGGCCAAGTA	0.537000												
CSMD1	64478	broad.mit.edu	37	8	2836245	2836245	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:2836245A>G	uc011kwk.1	-	55	8848	c.8458T>C	c.(8458-8460)TAT>CAT	p.Y2820H	CSMD1_uc011kwj.1_Missense_Mutation_p.Y2149H|CSMD1_uc010lrg.2_Missense_Mutation_p.Y830H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2820	Extracellular (Potential).|Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCATTCCATACTCAAAACTC	0.453000												
PRSS55	203074	broad.mit.edu	37	8	10383244	10383244	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:10383244T>C	uc003wta.2	+	1	164	c.149T>C	c.(148-150)GTC>GCC	p.V50A	uc010lru.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	50	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CCCAGCCCAGTCAGTGGTGAG	0.667000												
DLC1	10395	broad.mit.edu	37	8	12960317	12960317	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:12960317A>C	uc003wwm.2	-	8	1992	c.1548T>G	c.(1546-1548)ATT>ATG	p.I516M	DLC1_uc003wwk.1_Missense_Mutation_p.I79M|DLC1_uc003wwl.1_Missense_Mutation_p.I113M|DLC1_uc011kxx.1_Missense_Mutation_p.I5M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	516					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GATGAGGACTAATTTCTAGCT	0.368000												
DCTN6	10671	broad.mit.edu	37	8	30034704	30034704	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:30034704C>T	uc003xhy.2	+	4	344	c.257C>T	c.(256-258)ACC>ATC	p.T86I		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	86						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		ATCATTGGCACCAATAATGTG	0.353000												
DDHD2	23259	broad.mit.edu	37	8	38095637	38095637	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:38095637T>G	uc003xlb.2	+	5	909	c.532T>G	c.(532-534)TCT>GCT	p.S178A	DDHD2_uc003xla.2_Missense_Mutation_p.S178A|DDHD2_uc003xlc.2_Missense_Mutation_p.S178A|DDHD2_uc011lbl.1_Intron	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	178					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGTTGCAGGGTCTGATGATTG	0.408000												
ST18	9705	broad.mit.edu	37	8	53028967	53028967	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:53028967C>T	uc003xqz.2	-	20	3027	c.2871G>A	c.(2869-2871)ATG>ATA	p.M957I	ST18_uc011ldq.1_Missense_Mutation_p.M604I|ST18_uc011ldr.1_Missense_Mutation_p.M922I|ST18_uc011lds.1_Missense_Mutation_p.M862I|ST18_uc003xra.2_Missense_Mutation_p.M957I	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	957	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTTGCTCTCCATAGATGTGA	0.418000												
C8orf46	254778	broad.mit.edu	37	8	67428149	67428149	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:67428149G>A	uc003xwg.2	+	6	855	c.462G>A	c.(460-462)ATG>ATA	p.M154I	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.D134N|C8orf46_uc003xwi.2_Missense_Mutation_p.M19I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	154										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCAAGAAGATGACTGAAGAGT	0.537000												
CNGB3	54714	broad.mit.edu	37	8	87751938	87751938	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:87751938A>G	uc003ydx.2	-	2	202	c.156T>C	c.(154-156)TCT>TCC	p.S52S		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	52	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TGGTTTTGAGAGATTTCTCTT	0.323000												
KIAA1429	25962	broad.mit.edu	37	8	95527160	95527160	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:95527160T>G	uc003ygo.1	-	11	2701	c.2688A>C	c.(2686-2688)GAA>GAC	p.E896D	KIAA1429_uc003ygp.2_Missense_Mutation_p.E896D|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	896					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCAGAGGTTCAAGCCACT	0.254000												
COLEC10	10584	broad.mit.edu	37	8	120118230	120118230	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:120118230A>T	uc003yoo.2	+	6	731	c.634A>T	c.(634-636)AAT>TAT	p.N212Y		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	212	C-type lectin.					collagen|cytoplasm	mannose binding			ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CATTGGCGTGAATGACCTTGA	0.522000												
GSDMC	56169	broad.mit.edu	37	8	130763788	130763788	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:130763788T>C	uc003ysr.2	-	10	1825	c.943A>G	c.(943-945)AAT>GAT	p.N315D		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	315						mitochondrion				ovary(2)|skin(1)	3						AAATACTTACTTTGCCAGAAG	0.468000												
GSDMC	56169	broad.mit.edu	37	8	130788350	130788350	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr8:130788350T>G	uc003ysr.2	-	3	1284	c.402A>C	c.(400-402)AAA>AAC	p.K134N		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	134						mitochondrion				ovary(2)|skin(1)	3						GGCCTCACCTTTTTTGAAAGT	0.478000												
CNTLN	54875	broad.mit.edu	37	9	17309068	17309068	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:17309068T>G	uc003zmz.2	+	8	1185	c.1159T>G	c.(1159-1161)TTA>GTA	p.L387V	CNTLN_uc003zmy.2_Missense_Mutation_p.L387V|CNTLN_uc010mio.2_Missense_Mutation_p.L66V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	387						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TTACAATGAGTTACATATTTG	0.229000												
LINGO2	158038	broad.mit.edu	37	9	27949805	27949805	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:27949805C>T	uc003zqu.1	-	2	1059	c.865G>A	c.(865-867)GAA>AAA	p.E289K	LINGO2_uc010mjf.1_Missense_Mutation_p.E289K|LINGO2_uc003zqv.1_Missense_Mutation_p.E289K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	289	LRR 10.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ATGCCTGCTTCAATAGTGCTG	0.512000												
ACO1	48	broad.mit.edu	37	9	32430504	32430504	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:32430504C>T	uc003zqw.3	+	14	1813	c.1658C>T	c.(1657-1659)TCT>TTT	p.S553F	ACO1_uc010mjh.1_Missense_Mutation_p.S387F|ACO1_uc003zqx.3_Missense_Mutation_p.S553F|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	553					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATTTAGCCTCTCCCCCCTTA	0.443000												
TAF1L	138474	broad.mit.edu	37	9	32634599	32634599	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:32634599C>T	uc003zrg.1	-	1	1069	c.979G>A	c.(979-981)GAT>AAT	p.D327N	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	327					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)		ATTTCATCATCAGCGAGACAC	0.473000												
UBE2R2	54926	broad.mit.edu	37	9	33900231	33900231	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:33900231A>G	uc003ztm.2	+	3	898	c.324A>G	c.(322-324)GAA>GAG	p.E108E		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme UBC3B	108					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AGAGTGGAGAACTGCCTTCTG	0.393000												
KIAA1539	80256	broad.mit.edu	37	9	35107429	35107429	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:35107429T>G	uc003zwl.2	-	3	1168	c.843A>C	c.(841-843)AAA>AAC	p.K281N	KIAA1539_uc003zwm.2_Missense_Mutation_p.K281N|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.K281N|KIAA1539_uc003zwp.1_Missense_Mutation_p.K281N|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	281						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGTGTGGCTTTGGCATCAG	0.537000												
UNC13B	10497	broad.mit.edu	37	9	35295915	35295915	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:35295915G>A	uc003zwq.2	+	8	1041	c.749G>A	c.(748-750)CGG>CAG	p.R250Q	UNC13B_uc010mkl.1_Missense_Mutation_p.R250Q|UNC13B_uc003zwr.2_Missense_Mutation_p.R250Q	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	250					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TATCCAGAGCGGCGGGCTATC	0.478000												
C9orf41	138199	broad.mit.edu	37	9	77598770	77598770	+	Silent	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:77598770A>G	uc004ajq.2	-	8	1296	c.1143T>C	c.(1141-1143)TCT>TCC	p.S381S	uc004ajp.2_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	381										ovary(1)|skin(1)	2						TTGACAATACAGATTCTTTTT	0.313000												
KIF27	55582	broad.mit.edu	37	9	86518481	86518481	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:86518481C>T	uc004ana.2	-	4	1096	c.952G>A	c.(952-954)GTC>ATC	p.V318I	KIF27_uc010mpw.2_Missense_Mutation_p.V318I|KIF27_uc010mpx.2_Missense_Mutation_p.V318I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	318					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GAGGGGCTGACACATGTGATC	0.443000												
CDK20	23552	broad.mit.edu	37	9	90589344	90589344	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:90589344G>A	uc004apr.2	-	1	324	c.18C>T	c.(16-18)ATC>ATT	p.I6I	CDK20_uc004aps.2_Silent_p.I6I|CDK20_uc004apt.2_Silent_p.I6I|CDK20_uc004apu.2_Silent_p.I6I	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	6	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TGCGGCCCAGGATGCAGTACT	0.682000												
C9orf102	375748	broad.mit.edu	37	9	98691033	98691033	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:98691033G>A	uc004avt.3	+	11	2059	c.1671G>A	c.(1669-1671)GCG>GCA	p.A557A	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.A259A|C9orf102_uc010mry.1_Silent_p.A259A|C9orf102_uc010mrz.2_Silent_p.A368A|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	557	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				ACTGTATGGCGTCTGGGCTTG	0.408000												
FOXE1	2304	broad.mit.edu	37	9	100617277	100617277	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:100617277G>A	uc004axu.2	+	1	1741	c.1081G>A	c.(1081-1083)GCT>ACT	p.A361T		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	361					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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				0		Acute lymphoblastic leukemia(62;0.158)				CCATGCTGCCGCTTATCCCGG	0.637000												
NIPSNAP3B	55335	broad.mit.edu	37	9	107533246	107533246	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:107533246G>A	uc004bci.2	+	4	618	c.547G>A	c.(547-549)GTT>ATT	p.V183I	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	183										pancreas(1)|skin(1)	2						AGTAGTTGGTGTTTTCCACAC	0.403000												
ZNF462	58499	broad.mit.edu	37	9	109689886	109689886	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:109689886C>T	uc004bcz.2	+	3	3982	c.3693C>T	c.(3691-3693)GCC>GCT	p.A1231A	ZNF462_uc010mto.2_Silent_p.A1079A|ZNF462_uc004bda.2_Silent_p.A1079A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1231					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCATACGGCCACCATTCGAA	0.537000												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899000	112899000	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:112899000T>G	uc004bei.2	+	9	2064	c.1872T>G	c.(1870-1872)TGT>TGG	p.C624W	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.C392W|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.C392W|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.C202W|AKAP2_uc011lwi.1_Missense_Mutation_p.C250W|AKAP2_uc004bem.2_Missense_Mutation_p.C250W|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.C210W|AKAP2_uc011lwj.1_Missense_Mutation_p.C161W|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.C161W	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	161							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GCTCACGGTGTTCTTCCCGAG	0.567000												
PHYHD1	254295	broad.mit.edu	37	9	131702969	131702969	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:131702969C>T	uc004bwo.2	+	11	1611	c.678C>T	c.(676-678)CTC>CTT	p.L226L	PHYHD1_uc004bwn.2_Missense_Mutation_p.S219F|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Silent_p.L205L|NUP188_uc004bwq.1_5'Flank	NM_001100876	NP_001094346	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	226							metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATAACAGCCTCTTTGTGCCCA	0.627000												
MED22	6837	broad.mit.edu	37	9	136208530	136208530	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:136208530T>G	uc004cdc.2	-	5	662	c.428A>C	c.(427-429)GAA>GCA	p.E143A	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	143					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GTCATTAGCTTCGCAAAGGCT	0.612000												
MAN1B1	11253	broad.mit.edu	37	9	139995979	139995979	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:139995979C>T	uc004cld.2	+	8	1144	c.1109C>T	c.(1108-1110)TCC>TTC	p.S370F	MAN1B1_uc004clc.2_Missense_Mutation_p.S271F|MAN1B1_uc011meo.1_Missense_Mutation_p.S271F|MAN1B1_uc011mep.1_Missense_Mutation_p.S370F|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	370	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AGAACACCATCCAAGATTCCT	0.547000												
KAL1	3730	broad.mit.edu	37	X	8555945	8555945	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:8555945A>G	uc004csf.2	-	5	766	c.616T>C	c.(616-618)TCG>CCG	p.S206P		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	206	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TTGAATTTCGAGGACCACTTA	0.443000												
ATXN3L	92552	broad.mit.edu	37	X	13337535	13337535	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:13337535T>G	uc010ned.2	-	1	984	c.519A>C	c.(517-519)GAA>GAC	p.E173D		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	173	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						GTTGGTCAGCTTCACAGTCTG	0.363000												
GPRASP1	9737	broad.mit.edu	37	X	101910393	101910393	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:101910393T>G	uc004ejj.3	+	5	2353	c.1552T>G	c.(1552-1554)TTT>GTT	p.F518V	GPRASP1_uc004eji.3_Missense_Mutation_p.F518V|GPRASP1_uc010nod.2_Missense_Mutation_p.F518V	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	518	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGAGACCATTTTTGGGTCGTG	0.507000												
IRS4	8471	broad.mit.edu	37	X	107978572	107978572	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:107978572C>T	uc004eoc.2	-	1	1036	c.1003G>A	c.(1003-1005)GAA>AAA	p.E335K		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	335	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCTCTGTATTCGTCTGCACAC	0.592000												
ENOX2	10495	broad.mit.edu	37	X	129771267	129771267	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:129771267T>G	uc004evw.2	-	12	1752	c.1334A>C	c.(1333-1335)GAA>GCA	p.E445A	ENOX2_uc004evx.2_Missense_Mutation_p.E416A|ENOX2_uc004evy.2_Missense_Mutation_p.E416A|ENOX2_uc004evv.2_Missense_Mutation_p.E270A	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	445	Potential.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						AGGGTCATCTTCTCTGTGGAC	0.478000												
USP26	83844	broad.mit.edu	37	X	132160981	132160981	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:132160981T>G	uc010nrm.1	-	6	1738	c.1268A>C	c.(1267-1269)GAT>GCT	p.D423A	USP26_uc011mvf.1_Missense_Mutation_p.D423A	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	423					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GTCAGGATCATCAGCAAAAAC	0.373000												
SPANXN4	441525	broad.mit.edu	37	X	142121816	142121816	+	Silent	SNP	G	G	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:142121816G>A	uc004fbv.3	+	2	181	c.84G>A	c.(82-84)AAG>AAA	p.K28K		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	28										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGAAGAAGAAGAATCTGC	0.403000												
MAGEA4	4103	broad.mit.edu	37	X	151092439	151092439	+	Silent	SNP	C	C	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:151092439C>T	uc004fez.2	+	3	459	c.303C>T	c.(301-303)GAC>GAT	p.D101D	MAGEA4_uc004ffa.2_Silent_p.D101D|MAGEA4_uc004ffb.2_Silent_p.D101D|MAGEA4_uc004ffc.2_Silent_p.D101D|MAGEA4_uc004ffd.2_Silent_p.D101D	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557000												
MAGEA3	4102	broad.mit.edu	37	X	151935737	151935737	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chrX:151935737G>T	uc004fgp.2	-	3	639	c.430C>A	c.(430-432)CAG>AAG	p.Q144K		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	144	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAATACTGCCAATTTCCG	0.517000												
SEC16A	9919	broad.mit.edu	37	9	139366566	139366567	+	Splice_Site	INS	-	-	GTGGGAGG			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:139366565_139366566T>TGTGGGAGG	uc004chx.3	-	4	3877	c.3568_splice	c.e4-1	p.D1190_splice	SEC16A_uc004chv.4_Splice_Site_p.D580_splice|SEC16A_uc004chw.3_Splice_Site_p.D1190_splice|SEC16A_uc010nbn.3_Splice_Site_p.D1190_splice	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1012	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTAGACATCCTGTGGGAGGAAG	0.574												
EEF1G	1937	broad.mit.edu	37	11	62327809	62327810	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:62327809_62327810delCT	uc001ntm.1	-	8	1120_1121	c.974_975delAG	c.(973-975)GAGfs	p.E325fs	EEF1G_uc010rlw.1_Frame_Shift_Del_p.E375fs|EEF1G_uc001ntn.1_Frame_Shift_Del_p.E205fs	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	325	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						GGAAGCGATACTCTGAGTACCA	0.490												
C2orf67	151050	broad.mit.edu	37	2	210908810	210908810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:210908810delT	uc002vds.2	-	7	1982	c.1774delA	c.(1774-1776)ACAfs	p.T592fs	C2orf67_uc002vdt.2_Frame_Shift_Del_p.T592fs|C2orf67_uc002vdw.2_Frame_Shift_Del_p.T592fs|uc002vdu.1_Intron|C2orf67_uc002vdv.2_Frame_Shift_Del_p.T592fs|C2orf67_uc002vdx.1_Frame_Shift_Del_p.T592fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	592										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAAAATGCTGTTTCTTTTGAA	0.303												
RBM47	54502	broad.mit.edu	37	4	40440536	40440537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:40440536_40440537insT	uc003gvc.2	-	4	1084_1085	c.374_375insA	c.(373-375)AAGfs	p.K125fs	RBM47_uc003gvd.2_Frame_Shift_Ins_p.K125fs|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Frame_Shift_Ins_p.K87fs|RBM47_uc003gvg.1_Frame_Shift_Ins_p.K125fs	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	125	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(3)	3						GCACTGCGCGCTTGGCCTCGTG	0.649												
COL12A1	1303	broad.mit.edu	37	6	75833113	75833113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr6:75833113delT	uc003phs.2	-	43	7045	c.6879delA	c.(6877-6879)AAAfs	p.K2293fs	COL12A1_uc003pht.2_Frame_Shift_Del_p.K1129fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2293					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTTCTGTTGGTTTCACAGCta	0.413												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:76877903_76877903TA>T	uc001dhh.2	+	2	587	c.424_424TA>T	c.(424-426)tatfs	p.Y142fs	ST6GALNAC3_uc001dhg.4_Frame_Shift_Del_p.Y142fs|ST6GALNAC3_uc010orh.1_Frame_Shift_Del_p.Y77fs	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.Y142H(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAACCCTGATTATTTTTTCAA	0.413												
RNASEL	6041	broad.mit.edu	37	1	182544700	182544700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr1:182544699_182544699AT>A	uc009wxz.2	-	6	2311	c.2054_2054AT>T	c.(2053-2055)attfs	p.I685fs		NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	685	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGGGTCTCCAATTTTTAATTT	0.393												
ROCK2	9475	broad.mit.edu	37	2	11338685	11338688	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr2:11338684_11338687ATTTC>A	uc002rbd.1	-	24	3478_3481	c.3029_3032GAAAT>T	c.(3028-3033)gaaatafs	p.E1010fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1010	RHOA binding (By similarity).				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGCTGCGCTTATTTCTTCATCTTT	0.289												
RBM47	54502	broad.mit.edu	37	4	40440537	40440538	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr4:40440536_40440537C>CT	uc003gvc.2	-	3	1084_1085	c.374_375G>AG	c.(373-375)aagfs	p.K125fs	RBM47_uc003gvd.2_Frame_Shift_Ins_p.K125fs|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Frame_Shift_Ins_p.K87fs|RBM47_uc003gvg.1_Frame_Shift_Ins_p.K125fs	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	125	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCACTGCGCGCTTGGCCTCGTG	0.649												
DDX46	9879	broad.mit.edu	37	5	134099702	134099707	+	In_Frame_Del	DEL	TAGAGA	TAGAGA	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr5:134099701_134099706GTAGAGA>G	uc003kzw.3	+	1	293_298	c.125_130GTAGAGA>G	c.(124-132)agtagagat>aGat	p.42_44SRD>R	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	42	Arg-rich.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTCTAGAAGTAGAGATAGAGATAG	0.481												
SEC16A	9919	broad.mit.edu	37	9	139366566	139366567	+	Splice_Site	INS	-	-	GTGGGAGG			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr9:139366565_139366566T>TGTGGGAGG	uc004chx.3	-	4	3877	c.3568_splice	c.e4-1	p.D1190_splice	SEC16A_uc004chv.4_Splice_Site_p.D580_splice|SEC16A_uc004chw.3_Splice_Site_p.D1190_splice|SEC16A_uc010nbn.3_Splice_Site_p.D1190_splice	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1012	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTAGACATCCTGTGGGAGGAAG	0.574												
PPP1R3C	5507	broad.mit.edu	37	10	93389733	93389733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:93389732_93389732TG>T	uc001kho.3	-	1	1038	c.906_906CA>A	c.(904-906)ccafs	p.P302fs		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	302							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TCTGCCACTCTGGGAAGAGCC	0.507												
TDRD1	56165	broad.mit.edu	37	10	115947900	115947901	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr10:115947899_115947900G>GA	uc001lbg.1	+	1	462_463	c.309_310G>GA	c.(307-312)aggaaafs	p.R103fs	TDRD1_uc001lbf.3_Frame_Shift_Ins_p.R94fs|TDRD1_uc001lbh.1_Frame_Shift_Ins_p.R94fs|TDRD1_uc001lbi.1_Frame_Shift_Ins_p.R94fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	103					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGGAGACAGGAAAAAATTGCC	0.431												
C1QTNF5	114902	broad.mit.edu	37	11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589												
SLC24A6	80024	broad.mit.edu	37	12	113759073	113759074	+	Frame_Shift_Ins	INS	-	-	CCCC			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr12:113759072_113759073A>ACCCC	uc001tvc.3	-	2	447_448	c.237_238T>GGGGT	c.(235-240)gggtacfs	p.G79fs	SLC24A6_uc001tvd.1_Frame_Shift_Ins_p.G79fs|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	79					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TAGTCCAGGTACCCCCCATCAC	0.624												
SLC24A3	57419	broad.mit.edu	37	20	19565698	19565699	+	In_Frame_Ins	INS	-	-	AGGTAGGTG			TCGA-B7-5818-01A-11D-1600-08	TCGA-B7-5818-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1146e861-b45e-4c5d-b1dd-c4045349cd1a	c4840f34-7adb-4861-960e-9e5dd9372be6	g.chr20:19565697_19565698T>TAGGTAGGTG	uc002wrl.3	+	4	703_704	c.506_507T>TAGGTAGGTG	c.(505-507)ata>aTAGGTAGGTG	p.169_170insGR		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	169						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACATCGGTCATAGGTAGGTGAC	0.559