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
CDC20	991	broad.mit.edu	37	1	43826794	43826794	+	Missense_Mutation	SNP	G	G	A	rs1801456	byFrequency	TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:43826794G>A	uc001cix.2	+	9	1182	c.1081G>A	c.(1081-1083)GTA>ATA	p.V361I	CDC20_uc001ciy.2_Missense_Mutation_p.V361I	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	361	WD 5.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTAGGCCGTAGCATGGTG	0.557000												
NRD1	4898	broad.mit.edu	37	1	52280263	52280263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:52280263G>A	uc001ctc.3	-	15	2105	c.1783C>T	c.(1783-1785)CAG>TAG	p.Q595*	NRD1_uc009vzb.2_Nonsense_Mutation_p.Q290*|NRD1_uc001ctd.3_Nonsense_Mutation_p.Q527*|NRD1_uc001cte.2_Nonsense_Mutation_p.Q463*|NRD1_uc001ctf.2_Nonsense_Mutation_p.Q527*|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Nonsense_Mutation_p.Q395*	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	526				Q -> L (in Ref. 2; CAA63698/CAA63694).	cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TTTAAATACTGAAAGACAGTG	0.363000												
BCAS2	10286	broad.mit.edu	37	1	115123954	115123954	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:115123954C>G	uc001efa.2	-	2	205	c.152G>C	c.(151-153)AGC>ACC	p.S51T	DENND2C_uc001eez.2_RNA	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	51					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)		TGTCAGGTAGCTCAGGTAGTT	0.473000												
TSPAN2	10100	broad.mit.edu	37	1	115615613	115615613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:115615613C>T	uc001eft.2	-	2	147	c.85G>A	c.(85-87)GTC>ATC	p.V29I		NM_005725	NP_005716	O60636	TSN2_HUMAN	tetraspan 2	29	Helical; (Potential).					integral to membrane					0	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AAAGCAATGACGGCCGATCCA	0.517000												
FLG	2312	broad.mit.edu	37	1	152278792	152278792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:152278792C>T	uc001ezu.1	-	3	8606	c.8570G>A	c.(8569-8571)CGT>CAT	p.R2857H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2857	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.572000									Ichthyosis			
SYT11	23208	broad.mit.edu	37	1	155850376	155850376	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:155850376G>T	uc001fmg.2	+	3	1210	c.947G>T	c.(946-948)AGA>ATA	p.R316I	SYT11_uc010pgq.1_Missense_Mutation_p.R9I	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	316	C2 2.|Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTCAAAGCCAGACACTTGCCG	0.502000												
KIAA0907	22889	broad.mit.edu	37	1	155896493	155896493	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:155896493T>C	uc001fmi.1	-	6	679	c.655A>G	c.(655-657)AGC>GGC	p.S219G	KIAA0907_uc001fmj.1_Missense_Mutation_p.S219G|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S219G|KIAA0907_uc001fmm.2_Intron|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.S219G	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	219											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCTTCTGGCTAACAGCTGGA	0.418000												
RXRG	6258	broad.mit.edu	37	1	165389170	165389170	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:165389170G>C	uc001gda.2	-	3	679	c.379C>G	c.(379-381)CCA>GCA	p.P127A		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	127	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTGGTGGATGGGTAGTTCATG	0.498000												
RXRG	6258	broad.mit.edu	37	1	165397991	165397991	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:165397991G>T	uc001gda.2	-	2	562	c.262C>A	c.(262-264)CCA>ACA	p.P88T		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	88	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTGATTCCTGGAGGCGCTGCA	0.587000												
C1orf14	81626	broad.mit.edu	37	1	182873396	182873396	+	Silent	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:182873396T>A	uc001gpu.2	-	8	1791	c.1506A>T	c.(1504-1506)ATA>ATT	p.I502I	C1orf14_uc001gpv.2_Silent_p.I383I|C1orf14_uc010pnz.1_Silent_p.I360I|C1orf14_uc001gpw.2_Silent_p.I222I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	574	PbH1 1.										0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		CACATTTTAATATGCAGTTTT	0.408000												
KCNT2	343450	broad.mit.edu	37	1	196227467	196227467	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:196227467C>G	uc001gtd.1	-	26	3128	c.3068G>C	c.(3067-3069)AGA>ACA	p.R1023T	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R956T|KCNT2_uc001gtf.1_Missense_Mutation_p.R999T|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R527T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1023	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TGGGCCTTTTCTGCTCAGTCT	0.522000												
CFHR3	10878	broad.mit.edu	37	1	196744033	196744033	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:196744033A>G	uc001gtl.2	+	1	104	c.17A>G	c.(16-18)AAT>AGT	p.N6S	CFHR3_uc001gtk.2_Missense_Mutation_p.N6S|CFHR3_uc010poy.1_Missense_Mutation_p.N6S	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	6						extracellular space					0						TTACTAATCAATGTCATTCTG	0.338000												
F13B	2165	broad.mit.edu	37	1	197019844	197019844	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:197019844G>A	uc001gtt.1	-	10	1765	c.1721C>T	c.(1720-1722)ACA>ATA	p.T574I		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	574	Sushi 9.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CAATGGTGGTGTAGTCCACAT	0.338000												
KIF14	9928	broad.mit.edu	37	1	200571084	200571084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:200571084C>T	uc010ppk.1	-	11	2531	c.2092G>A	c.(2092-2094)GCC>ACC	p.A698T	KIF14_uc010ppj.1_Missense_Mutation_p.A207T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	698					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						ATTAAACGGGCTTGGTTAGCA	0.353000												
PKP1	5317	broad.mit.edu	37	1	201291173	201291173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:201291173G>A	uc001gwd.2	+	9	1729	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	PKP1_uc001gwe.2_Missense_Mutation_p.R472H|PKP1_uc009wzm.2_Missense_Mutation_p.R80H	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	493					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GTGCCCACCCGCTACCGCCAG	0.597000												
PPP1R12B	4660	broad.mit.edu	37	1	202464542	202464542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:202464542C>T	uc001gya.1	+	16	2411	c.2267C>T	c.(2266-2268)TCA>TTA	p.S756L	PPP1R12B_uc001gxz.1_Missense_Mutation_p.S756L|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	756					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			AATAGATTTTCAGTCCCTGAT	0.478000												
LRRN2	10446	broad.mit.edu	37	1	204587896	204587896	+	Missense_Mutation	SNP	G	G	A	rs141763834		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:204587896G>A	uc001hbe.1	-	3	1613	c.1225C>T	c.(1225-1227)CGT>TGT	p.R409C	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R409C|LRRN2_uc009xbf.1_Missense_Mutation_p.R409C|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	409	Extracellular (Potential).|LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACCTCACGGACCGGGAGG	0.657000												
GPR137B	7107	broad.mit.edu	37	1	236306163	236306163	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:236306163T>A	uc001hxq.2	+	1	332	c.241T>A	c.(241-243)TTC>ATC	p.F81I		NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	81	Helical; (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCAGAGCGTCTTCCTCTTTCT	0.582000												
RYR2	6262	broad.mit.edu	37	1	237838114	237838114	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr1:237838114T>A	uc001hyl.1	+	60	8918	c.8798T>A	c.(8797-8799)GTG>GAG	p.V2933E	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2933	Modulator (Potential).|Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCGCTATGTGGATGAAGCC	0.413000												
ITIH2	3698	broad.mit.edu	37	10	7771981	7771981	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:7771981T>A	uc001ijs.2	+	12	1508	c.1346T>A	c.(1345-1347)TTC>TAC	p.F449Y		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	449	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						ATCTCCTTGTTCAGTTTGGGC	0.388000												
PCDH15	65217	broad.mit.edu	37	10	55826517	55826517	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:55826517T>A	uc001jju.1	-	18	2615	c.2220A>T	c.(2218-2220)AAA>AAT	p.K740N	PCDH15_uc010qhq.1_Missense_Mutation_p.K745N|PCDH15_uc010qhr.1_Missense_Mutation_p.K740N|PCDH15_uc010qhs.1_Missense_Mutation_p.K752N|PCDH15_uc010qht.1_Missense_Mutation_p.K747N|PCDH15_uc010qhu.1_Missense_Mutation_p.K740N|PCDH15_uc001jjv.1_Missense_Mutation_p.K718N|PCDH15_uc010qhv.1_Missense_Mutation_p.K740N|PCDH15_uc010qhw.1_Missense_Mutation_p.K703N|PCDH15_uc010qhx.1_Missense_Mutation_p.K669N|PCDH15_uc010qhy.1_Missense_Mutation_p.K745N|PCDH15_uc010qhz.1_Missense_Mutation_p.K740N|PCDH15_uc010qia.1_Missense_Mutation_p.K718N|PCDH15_uc010qib.1_Missense_Mutation_p.K718N|PCDH15_uc001jjw.2_Missense_Mutation_p.K740N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	740	Extracellular (Potential).|Cadherin 7.				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)				TTCCACTTACTTTTACTTGAC	0.323000										HNSCC(58;0.16)		
CCAR1	55749	broad.mit.edu	37	10	70509403	70509403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:70509403C>T	uc001joo.2	+	10	1198	c.1079C>T	c.(1078-1080)CCA>CTA	p.P360L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.P165L|CCAR1_uc009xpx.1_Missense_Mutation_p.P334L|CCAR1_uc001jon.1_Missense_Mutation_p.P306L|CCAR1_uc010qiz.1_Missense_Mutation_p.P345L|CCAR1_uc010qja.1_Missense_Mutation_p.P345L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	360	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CGTGTTGTTCCACGTTACACA	0.418000												
GBF1	8729	broad.mit.edu	37	10	104136717	104136717	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:104136717C>T	uc001kux.1	+	33	4551	c.4311C>T	c.(4309-4311)GGC>GGT	p.G1437G	GBF1_uc001kuy.1_Silent_p.G1437G|GBF1_uc001kuz.1_Silent_p.G1438G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1437					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAAACGTGGCAAGAGTCACA	0.507000												
VENTX	27287	broad.mit.edu	37	10	135053288	135053288	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr10:135053288G>T	uc010quy.1	+	2	361	c.350G>T	c.(349-351)AGC>ATC	p.S117I		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	117	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CAGTACCTGAGCCCTCTGGAG	0.493000												
PHRF1	57661	broad.mit.edu	37	11	608501	608501	+	Silent	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:608501A>G	uc001lqe.2	+	14	3176	c.3045A>G	c.(3043-3045)GGA>GGG	p.G1015G	PHRF1_uc010qwc.1_Silent_p.G1014G|PHRF1_uc010qwd.1_Silent_p.G1013G|PHRF1_uc010qwe.1_Silent_p.G1011G|PHRF1_uc009ybz.1_Silent_p.G805G|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1015	Arg-rich.						RNA polymerase binding|zinc ion binding				0						GGGAGCACGGACGGACGCGCT	0.667000												
RAG1	5896	broad.mit.edu	37	11	36595009	36595009	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:36595009C>A	uc001mwu.3	+	2	279	c.155C>A	c.(154-156)TCC>TAC	p.S52Y	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	52	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AAGAAGGATTCCTTTGAGGGG	0.463000									Familial_Hemophagocytic_Lymphohistiocytosis			
C11orf94	143678	broad.mit.edu	37	11	45928156	45928156	+	Silent	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:45928156G>C	uc001nbs.3	-	3	298	c.261C>G	c.(259-261)CCC>CCG	p.P87P		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	hypothetical protein LOC143678	87						extracellular region					0						CGGCAAGGTCGGGCCCGTCCC	0.582000												
MS4A8B	83661	broad.mit.edu	37	11	60476241	60476241	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:60476241A>G	uc001npv.2	+	5	724	c.521A>G	c.(520-522)TAC>TGC	p.Y174C	MS4A8B_uc009yne.1_Missense_Mutation_p.Y174C	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	174	Extracellular (Potential).					integral to membrane	receptor activity				0						TATTATCCTTACGCCTGGGGT	0.453000												
OR2AT4	341152	broad.mit.edu	37	11	74800351	74800351	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:74800351G>T	uc010rro.1	-	1	408	c.408C>A	c.(406-408)CAC>CAA	p.H136Q		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGACAGGGTAGTGCAGTGGGT	0.542000												
TMEM225	338661	broad.mit.edu	37	11	123753982	123753982	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:123753982A>G	uc001pzi.2	-	4	749	c.541T>C	c.(541-543)TGT>CGT	p.C181R		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	181						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						GATTCCTTACATTCGTTGTCA	0.438000												
OR10S1	219873	broad.mit.edu	37	11	123847713	123847713	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr11:123847713A>C	uc001pzm.1	-	1	686	c.686T>G	c.(685-687)GTT>GGT	p.V229G		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	229	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGGAAATAACGATGAGGAT	0.597000												
LRMP	4033	broad.mit.edu	37	12	25254154	25254154	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:25254154G>A	uc001rgh.2	+	15	1818	c.784G>A	c.(784-786)GTA>ATA	p.V262I	LRMP_uc010sja.1_Missense_Mutation_p.V262I|LRMP_uc010sjb.1_Missense_Mutation_p.V209I|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.V262I|LRMP_uc010sjd.1_Missense_Mutation_p.V209I	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	318	Potential.|Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GATTCAGCACGTAGAAAACTT	0.358000												
PLXNC1	10154	broad.mit.edu	37	12	94603463	94603463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:94603463C>T	uc001tdc.2	+	5	1786	c.1537C>T	c.(1537-1539)CGA>TGA	p.R513*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	513	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TCAGATAATTCGAAGCAGTAA	0.358000												
ANO4	121601	broad.mit.edu	37	12	101520836	101520836	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:101520836C>T	uc010svm.1	+	27	3428	c.2856C>T	c.(2854-2856)AAC>AAT	p.N952N	ANO4_uc001thw.2_Silent_p.N917N|ANO4_uc001thx.2_Silent_p.N952N|ANO4_uc001thy.2_Silent_p.N472N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	952	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CACACCACAACGAGTGGCCGT	0.488000										HNSCC(74;0.22)		
OAS2	4939	broad.mit.edu	37	12	113424902	113424902	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:113424902C>T	uc001tuj.2	+	2	377	c.237C>T	c.(235-237)CTC>CTT	p.L79L	OAS2_uc001tuh.2_Silent_p.L79L|OAS2_uc001tui.1_Silent_p.L79L	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	79	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						CCCTTGTCCTCTTCTTCAGTG	0.458000												
NOS1	4842	broad.mit.edu	37	12	117658007	117658007	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:117658007C>T	uc001twm.1	-	27	4729	c.4043G>A	c.(4042-4044)GGG>GAG	p.G1348E		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1348	NADP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TATGTGGCCCCCTTGCTCCTT	0.602000												
TMEM132B	114795	broad.mit.edu	37	12	125834316	125834316	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:125834316T>C	uc001uhe.1	+	2	379	c.371T>C	c.(370-372)ATC>ACC	p.I124T		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	124	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAATCCCACATCCTTGACAGC	0.468000												
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr12:131466566C>T	uc001uit.3	+	5	1007	c.448C>T	c.(448-450)CGG>TGG	p.R150W	GPR133_uc010tbm.1_Missense_Mutation_p.R182W	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	150	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587000												
PCDH20	64881	broad.mit.edu	37	13	61987146	61987146	+	Silent	SNP	T	T	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr13:61987146T>C	uc001vid.3	-	2	1450	c.1086A>G	c.(1084-1086)AAA>AAG	p.K362K	PCDH20_uc010thj.1_Silent_p.K362K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	335	Cadherin 3.|Extracellular (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)		CTTGTGGAACTTTCTGACTGT	0.433000												
SLITRK6	84189	broad.mit.edu	37	13	86368485	86368485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr13:86368485C>T	uc001vll.1	-	2	2618	c.2159G>A	c.(2158-2160)AGT>AAT	p.S720N	SLITRK6_uc010afe.1_Missense_Mutation_p.S173N	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	720	Cytoplasmic (Potential).					integral to membrane		p.S720C(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCCAAAAGACTTCTTTGGAG	0.398000												
SALL2	6297	broad.mit.edu	37	14	21991438	21991438	+	Silent	SNP	T	T	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:21991438T>C	uc001wbe.2	-	2	2706	c.2424A>G	c.(2422-2424)GCA>GCG	p.A808A	SALL2_uc010tly.1_Silent_p.A806A|SALL2_uc010tlz.1_Silent_p.A671A|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.A673A|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	808							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCCTCCTCTGCCCCAGATG	0.532000												
NPAS3	64067	broad.mit.edu	37	14	34269261	34269261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:34269261C>T	uc001wru.2	+	12	1812	c.1748C>T	c.(1747-1749)TCG>TTG	p.S583L	NPAS3_uc001wrs.2_Missense_Mutation_p.S570L|NPAS3_uc001wrt.2_Missense_Mutation_p.S551L|NPAS3_uc001wrv.2_Missense_Mutation_p.S553L	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCCAAGGACTCGGACAGCGCA	0.682000												
SYNE2	23224	broad.mit.edu	37	14	64556322	64556322	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:64556322T>G	uc001xgm.2	+	59	11931	c.11701T>G	c.(11701-11703)TCA>GCA	p.S3901A	SYNE2_uc001xgl.2_Missense_Mutation_p.S3901A|SYNE2_uc010apy.2_Missense_Mutation_p.S286A|SYNE2_uc010apx.1_Missense_Mutation_p.S293A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3901	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGTAAAATCAATGGAAAA	0.289000												
COX16	51241	broad.mit.edu	37	14	70826374	70826374	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:70826374C>T	uc001xmb.2	-	1	71	c.-69G>A	c.(-71--67)GCGTG>GCATG			NM_016468	NP_057552	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog							integral to membrane|mitochondrial membrane					0						CAGCAGCTCACGCTCTCACCA	0.517000												
STON2	85439	broad.mit.edu	37	14	81744110	81744110	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:81744110T>G	uc010tvu.1	-	4	1746	c.1545A>C	c.(1543-1545)AAA>AAC	p.K515N	STON2_uc001xvk.1_Missense_Mutation_p.K515N|STON2_uc010tvt.1_Missense_Mutation_p.K312N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	515	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCACAGCAGGTTTGGGCTGGT	0.493000												
SERPINA1	5265	broad.mit.edu	37	14	94847443	94847443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr14:94847443C>T	uc001ycx.3	-	3	943	c.682G>A	c.(682-684)GAG>AAG	p.E228K	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.E228K|SERPINA1_uc010aux.2_Missense_Mutation_p.E228K|SERPINA1_uc001ycy.3_Missense_Mutation_p.E228K|SERPINA1_uc010auy.2_Missense_Mutation_p.E228K|SERPINA1_uc001ycz.3_Missense_Mutation_p.E228K|SERPINA1_uc010auz.2_Missense_Mutation_p.E228K|SERPINA1_uc010ava.2_Missense_Mutation_p.E228K|SERPINA1_uc001ydb.3_Missense_Mutation_p.E228K|SERPINA1_uc010avb.2_Missense_Mutation_p.E228K|SERPINA1_uc001ydc.3_Missense_Mutation_p.E228K|SERPINA1_uc001yda.1_Missense_Mutation_p.E228K	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	228			E -> K (in X).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TCCTCTTCCTCGGTGTCCTTG	0.522000									Alpha-1-Antitrypsin_Deficiency			
DUOX1	53905	broad.mit.edu	37	15	45428813	45428813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr15:45428813G>A	uc001zus.1	+	10	1358	c.1012G>A	c.(1012-1014)GTC>ATC	p.V338I	DUOX1_uc001zut.1_Missense_Mutation_p.V338I|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	338	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCCCTGGCGTCTACATGAG	0.587000												
MAP2K1	5604	broad.mit.edu	37	15	66729154	66729154	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr15:66729154G>C	uc010bhq.2	+	3	837	c.362G>C	c.(361-363)TGC>TCC	p.C121S	MAP2K1_uc010ujp.1_Missense_Mutation_p.C99S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CTGCATGAGTGCAACTCTCCG	0.502000									Cardiofaciocutaneous_syndrome			
PEX11A	8800	broad.mit.edu	37	15	90226909	90226909	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr15:90226909C>T	uc002boi.2	-	3	538	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	148	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACATGTAACTCGTTTCATCTG	0.478000												
WDR90	197335	broad.mit.edu	37	16	711480	711480	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:711480G>T	uc002cii.1	+	30	3706	c.3652G>T	c.(3652-3654)GAC>TAC	p.D1218Y	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.D745Y|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.D392Y|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1218	WD 13.									ovary(1)	1		Hepatocellular(780;0.0218)				CTCACCAGATGACAGGCTTCT	0.642000												
CCDC78	124093	broad.mit.edu	37	16	775269	775269	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:775269G>C	uc002cjg.2	-	5	566	c.460C>G	c.(460-462)CCC>GCC	p.P154A	CCDC78_uc002cjf.2_Missense_Mutation_p.P3A|CCDC78_uc002cji.3_Missense_Mutation_p.P228A|CCDC78_uc002cjj.3_Missense_Mutation_p.P98A|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.P154A|CCDC78_uc002cjk.2_Missense_Mutation_p.P143A|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	154										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				TCATTCTCGGGGTTCATGGTG	0.627000												
KIAA0556	23247	broad.mit.edu	37	16	27752044	27752044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:27752044G>A	uc002dow.2	+	15	2450	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	809										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						AAAGGCCTACGGCATGAGCCA	0.597000												
MVP	9961	broad.mit.edu	37	16	29853242	29853242	+	Silent	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:29853242C>A	uc002dui.2	+	10	1527	c.1443C>A	c.(1441-1443)GTC>GTA	p.V481V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Silent_p.V481V|MVP_uc010vea.1_Silent_p.V75V	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	481	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GCAGCGTGGTCTTCGGGCCTG	0.667000												
DDX28	55794	broad.mit.edu	37	16	68055970	68055970	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:68055970G>A	uc002evh.1	-	1	1990	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	379	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CACCAGCTCGGCCACCTTATC	0.522000												
CHST6	4166	broad.mit.edu	37	16	75512895	75512895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr16:75512895G>A	uc002fef.2	-	3	1012	c.832C>T	c.(832-834)CGG>TGG	p.R278W	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R278W	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	278	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGCGGCTCCCGCGCCAGGTCC	0.667000												
PIK3R5	23533	broad.mit.edu	37	17	8792137	8792137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:8792137C>A	uc002glt.2	-	10	1034	c.967G>T	c.(967-969)GAG>TAG	p.E323*	PIK3R5_uc010vuz.1_Nonsense_Mutation_p.E323*|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.R271S|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	323				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						tcctcttcctcctcttcATCA	0.463000												
MYH13	8735	broad.mit.edu	37	17	10216579	10216579	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:10216579G>A	uc002gmk.1	-	30	4167	c.4077C>T	c.(4075-4077)GCC>GCT	p.A1359A		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1359	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCTGCAGCTCGGCCTTGGCTT	0.632000												
COX10	1352	broad.mit.edu	37	17	13980159	13980159	+	Silent	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:13980159A>G	uc002gof.3	+	3	489	c.285A>G	c.(283-285)GAA>GAG	p.E95E	COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	95					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCAAAGCAGAAATATATGAGA	0.443000												
KRTAP1-5	83895	broad.mit.edu	37	17	39183049	39183049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:39183049C>T	uc002hvu.2	-	1	406	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	120	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGTCTGGGCGGCACCACCT	0.647000												
SGCA	6442	broad.mit.edu	37	17	48252711	48252711	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:48252711C>T	uc002iqi.2	+	9	1113	c.1077C>T	c.(1075-1077)ACC>ACT	p.T359T	SGCA_uc002iqj.2_Silent_p.T235T|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	359	Cytoplasmic (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CACTCTCCACCCTGCCCATGT	0.667000												
FBF1	85302	broad.mit.edu	37	17	73915948	73915948	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:73915948T>A	uc002jqc.2	-	19	2168	c.1894A>T	c.(1894-1896)ATC>TTC	p.I632F	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.I623F|FBF1_uc002jqd.1_Missense_Mutation_p.I633F|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	632											0						AGCACCTTGATGCGGCTTCTG	0.612000												
DLGAP1	9229	broad.mit.edu	37	18	3742442	3742442	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr18:3742442A>G	uc002kmf.2	-	3	1310	c.1243T>C	c.(1243-1245)TCC>CCC	p.S415P	DLGAP1_uc010wyz.1_Missense_Mutation_p.S415P|DLGAP1_uc002kme.1_Missense_Mutation_p.S113P|DLGAP1_uc010dkn.2_Missense_Mutation_p.S113P|DLGAP1_uc010wyw.1_Missense_Mutation_p.S121P|DLGAP1_uc010wyx.1_Missense_Mutation_p.S127P|DLGAP1_uc010wyy.1_Missense_Mutation_p.S127P|DLGAP1_uc002kmg.2_Missense_Mutation_p.S113P|DLGAP1_uc002kmk.2_Missense_Mutation_p.S415P	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	415					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CGGTTGATGGAGACTTCACTC	0.527000												
LRRC30	339291	broad.mit.edu	37	18	7231917	7231917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr18:7231917G>A	uc010wzk.1	+	1	781	c.781G>A	c.(781-783)GCC>ACC	p.A261T		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	261										ovary(1)|liver(1)	2						GGTGAGGATCGCCTGGAATCC	0.582000												
TNFRSF11A	8792	broad.mit.edu	37	18	60036280	60036280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr18:60036280C>T	uc002lin.2	+	9	1168	c.1130C>T	c.(1129-1131)CCC>CTC	p.P377L	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	377	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				TTCTCTGAACCCCTGGAGGTG	0.557000									Paget_Disease_of_Bone			
SF3A2	8175	broad.mit.edu	37	19	2247812	2247812	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:2247812C>G	uc002lvg.2	+	9	784	c.662C>G	c.(661-663)CCC>CGC	p.P221R	AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	221	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTCCACCCAGCCTCCCT	0.662000												
C19orf29	58509	broad.mit.edu	37	19	3623842	3623842	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:3623842C>T	uc002lyh.2	-	2	539	c.486G>A	c.(484-486)ACG>ACA	p.T162T	C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Silent_p.T162T|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	162	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTCGGGCGTCTCGAAGG	0.682000												
HNRNPM	4670	broad.mit.edu	37	19	8531211	8531211	+	Silent	SNP	A	A	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:8531211A>C	uc010dwe.2	+	7	803	c.723A>C	c.(721-723)GGA>GGC	p.G241G	HNRNPM_uc010dwc.1_Silent_p.G241G|HNRNPM_uc010xke.1_Silent_p.G202G|HNRNPM_uc010dwd.2_Silent_p.G202G|HNRNPM_uc002mka.2_Silent_p.G121G	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	241	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						ATAAAGATGGAAAAAGTCGTG	0.403000												
CYP4F22	126410	broad.mit.edu	37	19	15636337	15636337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:15636337C>T	uc002nbh.3	+	3	357	c.190C>T	c.(190-192)CGG>TGG	p.R64W		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	64						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CCAGCCTCCCCGGCGCAACTG	0.527000												
ZNF626	199777	broad.mit.edu	37	19	20808009	20808009	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:20808009C>A	uc002npb.1	-	4	824	c.674G>T	c.(673-675)GGA>GTA	p.G225V	ZNF626_uc002npc.1_Missense_Mutation_p.G149V	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGTTTCTCTCCAGTATGAAT	0.393000												
ZNF429	353088	broad.mit.edu	37	19	21720043	21720043	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:21720043C>T	uc002nqd.1	+	4	1325	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAGAGGAACCCTACAAATTTG	0.368000												
TBCB	1155	broad.mit.edu	37	19	36611658	36611658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:36611658C>T	uc002odg.1	+	3	880	c.305C>T	c.(304-306)TCC>TTC	p.S102F	TBCB_uc002odh.1_Missense_Mutation_p.S83F	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	102					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGACGTGTCCCGGGTGGAG	0.647000												
LRFN1	57622	broad.mit.edu	37	19	39805434	39805434	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:39805434C>T	uc002okw.2	-	1	543	c.543G>A	c.(541-543)GCG>GCA	p.A181A		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	181	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTGGCCCACCGCCTCCCACG	0.632000												
EGLN2	112398	broad.mit.edu	37	19	41307124	41307124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:41307124G>A	uc010ehd.2	+	8	1648	c.647G>A	c.(646-648)GGT>GAT	p.G216D	EGLN2_uc002opg.3_Missense_Mutation_p.G216D|EGLN2_uc002oph.2_Missense_Mutation_p.G216D|EGLN2_uc002opi.2_Missense_Mutation_p.G216D	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	216					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CTCAAACGGGGTGGGCGCCTG	0.687000												
LILRB5	10990	broad.mit.edu	37	19	54760505	54760505	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:54760505C>T	uc002qex.2	-	3	313	c.202G>A	c.(202-204)GCC>ACC	p.A68T	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A68T|LILRB5_uc002qey.2_Missense_Mutation_p.A68T|LILRB5_uc002qez.2_Missense_Mutation_p.A68T|LILRB5_uc002qfa.1_Missense_Mutation_p.A58T|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	68	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTTCCGGGCCCATGGGAGT	0.607000												
NLRP7	199713	broad.mit.edu	37	19	55447693	55447693	+	Missense_Mutation	SNP	G	G	A	rs143673542		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:55447693G>A	uc002qih.3	-	6	2312	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	NLRP7_uc002qig.3_Missense_Mutation_p.R718C|NLRP7_uc002qii.3_Missense_Mutation_p.R746C|NLRP7_uc010esk.2_Missense_Mutation_p.R746C|NLRP7_uc010esl.2_Missense_Mutation_p.R774C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	746							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ATCATCGTGCGTTCCCACTCG	0.572000												
ZNF417	147687	broad.mit.edu	37	19	58420784	58420784	+	Nonsense_Mutation	SNP	G	G	A	rs149986649	byFrequency	TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr19:58420784G>A	uc002qqq.2	-	3	1061	c.862C>T	c.(862-864)CGA>TGA	p.R288*	ZNF417_uc010yhm.1_Nonsense_Mutation_p.R245*|ZNF417_uc002qqr.2_Nonsense_Mutation_p.R287*	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GTGTGGACTCGCTGATGTTGA	0.463000												
FAM110C	642273	broad.mit.edu	37	2	46121	46121	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:46121C>G	uc010yim.1	-	1	265	c.265G>C	c.(265-267)GCT>CCT	p.A89P		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	hypothetical protein LOC642273	89						microtubule|microtubule organizing center|spindle pole					0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGCGCAATAGCCCTgcgcgcc	0.562000												
MFSD2B	388931	broad.mit.edu	37	2	24240392	24240392	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:24240392C>T	uc002reo.1	+	6	629	c.615C>T	c.(613-615)GGC>GGT	p.G205G	MFSD2B_uc010exz.1_RNA	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	205	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TCGTGTCCGGCGCCCACAGAC	0.647000												
SRD5A2	6716	broad.mit.edu	37	2	31754396	31754396	+	Nonsense_Mutation	SNP	G	G	A	rs121434248		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:31754396G>A	uc002rnw.1	-	5	750	c.679C>T	c.(679-681)CGA>TGA	p.R227*		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	227					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TGAAAAGCTCGCAGCCCAAGG	0.463000												
PLEKHH2	130271	broad.mit.edu	37	2	43922307	43922307	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:43922307G>A	uc010yny.1	+	6	529	c.446G>A	c.(445-447)CGT>CAT	p.R149H	PLEKHH2_uc002rte.3_Missense_Mutation_p.R149H|PLEKHH2_uc002rtf.3_Missense_Mutation_p.R149H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	149	Potential.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGAATCTTCGTTTGATCAAC	0.259000												
USP34	9736	broad.mit.edu	37	2	61493232	61493232	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:61493232C>A	uc002sbe.2	-	42	5526	c.5504G>T	c.(5503-5505)TGC>TTC	p.C1835F	USP34_uc002sbf.2_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1835					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ATGTGATTTGCACTTTGGCTG	0.408000												
EHBP1	23301	broad.mit.edu	37	2	63085542	63085542	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:63085542A>T	uc002sby.2	+	8	1118	c.636A>T	c.(634-636)GAA>GAT	p.E212D	EHBP1_uc010fcp.2_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	212				E -> G (in Ref. 2; AAQ97141 and 3; CAD38814).		cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGTTTACAGAAATTGTAAACC	0.383000									Hereditary_Prostate_Cancer			
SMYD5	10322	broad.mit.edu	37	2	73446046	73446046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:73446046C>T	uc002siw.2	+	2	183	c.154C>T	c.(154-156)CGG>TGG	p.R52W	SMYD5_uc010yre.1_Translation_Start_Site	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	52							metal ion binding				0						CTTCGTAGAACGGCCCCTGGT	0.542000												
ZC3H8	84524	broad.mit.edu	37	2	112991747	112991747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:112991747G>A	uc002thp.2	-	5	677	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	191	C3H1-type 1.				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTCCCTTGCGTTCCACTGTA	0.303000												
POLR1B	84172	broad.mit.edu	37	2	113322007	113322007	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:113322007C>T	uc002thw.2	+	10	2257	c.1677C>T	c.(1675-1677)GAC>GAT	p.D559D	POLR1B_uc010fkn.2_Silent_p.D503D|POLR1B_uc002thx.2_Silent_p.D420D|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Translation_Start_Site|POLR1B_uc010yxn.1_Silent_p.D597D|POLR1B_uc002thy.2_Silent_p.D420D|POLR1B_uc010yxo.1_Silent_p.D336D	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						TCCTGCTGGACGGTGTCATGG	0.502000												
LRP1B	53353	broad.mit.edu	37	2	141819691	141819691	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:141819691G>T	uc002tvj.1	-	8	2137	c.1165C>A	c.(1165-1167)CTT>ATT	p.L389I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	389	Extracellular (Potential).|LDL-receptor class B 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAAGTAAAGATCTACCCAG	0.423000										TSP Lung(27;0.18)		
ZEB2	9839	broad.mit.edu	37	2	145161588	145161588	+	Silent	SNP	G	G	A	rs140169964		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:145161588G>A	uc002tvu.2	-	6	1182	c.702C>T	c.(700-702)CAC>CAT	p.H234H	ZEB2_uc002tvv.2_Silent_p.H228H|ZEB2_uc010zbm.1_Silent_p.H205H|ZEB2_uc010fnp.2_Silent_p.H142H|ZEB2_uc010fnq.1_Silent_p.H263H	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	234	C2H2-type 1.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATTCTTCTCGTGGCGGTACT	0.557000												
KCNH7	90134	broad.mit.edu	37	2	163393500	163393500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:163393500G>A	uc002uch.1	-	3	610	c.398C>T	c.(397-399)ACG>ATG	p.T133M	KCNH7_uc002uci.2_Missense_Mutation_p.T133M	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	133	Cytoplasmic (Potential).|PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTCATTATCCGTCACATATTC	0.388000												
TTN	7273	broad.mit.edu	37	2	179402500	179402500	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:179402500C>A	uc010zfg.1	-	304	91954	c.91730G>T	c.(91729-91731)CGG>CTG	p.R30577L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24272L|TTN_uc010zfi.1_Missense_Mutation_p.R24205L|TTN_uc010zfj.1_Missense_Mutation_p.R24080L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31504							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)			TTTGTATTTCCGGCTTTGTAT	0.428000												
TTN	7273	broad.mit.edu	37	2	179452842	179452842	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:179452842C>G	uc010zfg.1	-	254	55812	c.55588G>C	c.(55588-55590)GGA>CGA	p.G18530R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12225R|TTN_uc010zfi.1_Missense_Mutation_p.G12158R|TTN_uc010zfj.1_Missense_Mutation_p.G12033R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19457							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)			ACAACATATCCAATGATCGGT	0.463000												
TTN	7273	broad.mit.edu	37	2	179483457	179483457	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:179483457G>T	uc010zfg.1	-	200	39340	c.39116C>A	c.(39115-39117)CCT>CAT	p.P13039H	TTN_uc010zfh.1_Missense_Mutation_p.P6734H|TTN_uc010zfi.1_Missense_Mutation_p.P6667H|TTN_uc010zfj.1_Missense_Mutation_p.P6542H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13966							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)			TGTAGATAAAGGTTCATTTTC	0.408000												
CALCRL	10203	broad.mit.edu	37	2	188225342	188225342	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:188225342T>A	uc002upv.3	-	10	1312	c.764A>T	c.(763-765)TAT>TTT	p.Y255F	CALCRL_uc010frt.2_Missense_Mutation_p.Y255F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	255	Helical; Name=4; (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAGAAAATAATACCACATTAA	0.393000												
CCDC108	255101	broad.mit.edu	37	2	219875581	219875581	+	Silent	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:219875581G>T	uc002vjl.1	-	25	4179	c.4095C>A	c.(4093-4095)GGC>GGA	p.G1365G		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1365						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)		GGGCAGTGCTGCCTGGCTGGA	0.552000												
PAX3	5077	broad.mit.edu	37	2	223086025	223086025	+	Missense_Mutation	SNP	C	C	T	rs142651003		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr2:223086025C>T	uc010fwo.2	-	6	1240	c.874G>A	c.(874-876)GGG>AGG	p.G292R	PAX3_uc002vmt.1_Missense_Mutation_p.G292R|PAX3_uc002vmy.1_Missense_Mutation_p.G291R|PAX3_uc002vmv.1_Missense_Mutation_p.G292R|PAX3_uc002vmw.1_Missense_Mutation_p.G292R|PAX3_uc002vmx.1_Missense_Mutation_p.G292R	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	292					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACCCCCCGGGAATGAGA	0.527000			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
CHGB	1114	broad.mit.edu	37	20	5903632	5903632	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:5903632C>A	uc002wmg.2	+	4	1148	c.842C>A	c.(841-843)CCC>CAC	p.P281H	CHGB_uc010zqz.1_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	281						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CGCACGAGGCCCAGACACCAC	0.592000												
SGK2	10110	broad.mit.edu	37	20	42213598	42213598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:42213598C>T	uc002xkv.2	+	12	1445	c.1226C>T	c.(1225-1227)TCA>TTA	p.S409L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.S349L|SGK2_uc010ggm.2_3'UTR|SGK2_uc002xks.2_Missense_Mutation_p.S348L|SGK2_uc002xku.2_Missense_Mutation_p.S349L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	409	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTGGGGCCTCAAGTGCATTC	0.507000												
COL20A1	57642	broad.mit.edu	37	20	61956812	61956812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:61956812G>A	uc011aau.1	+	28	3414	c.3314G>A	c.(3313-3315)GGA>GAA	p.G1105E	COL20A1_uc011aav.1_Missense_Mutation_p.G926E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1105	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GGGGTCAAAGGAGAGAAGGGA	0.657000												
OPRL1	4987	broad.mit.edu	37	20	62729814	62729814	+	Missense_Mutation	SNP	C	C	T	rs148484121	byFrequency	TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr20:62729814C>T	uc002yic.2	+	5	1177	c.775C>T	c.(775-777)CGG>TGG	p.R259W	OPRL1_uc002yid.2_Missense_Mutation_p.R259W|OPRL1_uc002yif.3_Missense_Mutation_p.R254W	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	259	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGGAACCTGCGGCGCATCAC	0.667000												
SON	6651	broad.mit.edu	37	21	34927514	34927514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:34927514C>T	uc002yse.1	+	3	6026	c.5977C>T	c.(5977-5979)CGC>TGC	p.R1993C	SON_uc002ysb.1_Missense_Mutation_p.R1993C|SON_uc002ysc.2_Missense_Mutation_p.R1993C|SON_uc002ysd.2_Missense_Mutation_p.R984C|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R984C	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1993	2-7.|2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						ccgtcggagccgcaccccaag	0.184000												
UBASH3A	53347	broad.mit.edu	37	21	43829575	43829575	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:43829575C>A	uc002zbe.2	+	3	248	c.212C>A	c.(211-213)CCC>CAC	p.P71H	UBASH3A_uc002zbf.2_Missense_Mutation_p.P71H|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.P71H	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	71						cytosol|nucleus				ovary(3)	3						GACCCCATCCCCCAGGAGTAT	0.537000												
SIK1	150094	broad.mit.edu	37	21	44841177	44841177	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:44841177G>A	uc002zdf.2	-	6	697	c.570C>T	c.(568-570)GCC>GCT	p.A190A		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	190	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						CTTCCGGGGCGGCATACGGGG	0.597000												
RRP1B	23076	broad.mit.edu	37	21	45096660	45096660	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr21:45096660G>C	uc002zdk.2	+	8	775	c.661G>C	c.(661-663)GTA>CTA	p.V221L		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	221					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CGAAGCTATCGTAGATCAGTC	0.517000												
ARVCF	421	broad.mit.edu	37	22	19969506	19969506	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr22:19969506C>T	uc002zqz.2	-	4	590	c.319G>A	c.(319-321)GTG>ATG	p.V107M	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.V107M	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	107					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					ACAATAGACACATGGGAAGTG	0.657000												
MMP11	4320	broad.mit.edu	37	22	24125616	24125616	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr22:24125616G>A	uc002zxx.2	+	8	1374	c.1352G>A	c.(1351-1353)CGC>CAC	p.R451H	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	451	Hemopexin-like 4.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TACTTCCTGCGCGGCCGCCTC	0.627000												
GAS2L1	10634	broad.mit.edu	37	22	29708172	29708172	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr22:29708172G>T	uc003afa.1	+	7	1931	c.1732G>T	c.(1732-1734)GGC>TGC	p.G578C	GAS2L1_uc010gvm.1_Missense_Mutation_p.G351C|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.G578C|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	578					cell cycle arrest	cytoplasm|cytoskeleton					0						TGGCAAATGTGGCCAACCTGG	0.662000												
XPC	7508	broad.mit.edu	37	3	14200141	14200141	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:14200141C>T	uc011ave.1	-	9	1346	c.1242G>A	c.(1240-1242)CAG>CAA	p.Q414Q	XPC_uc011avf.1_Silent_p.Q221Q|XPC_uc011avg.1_Silent_p.Q377Q	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	414	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						GCGGACGTCGCTGGGTTGCCT	0.602000			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum			
HIGD1A	25994	broad.mit.edu	37	3	42827591	42827591	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:42827591G>T	uc003cma.3	-	3	307	c.161C>A	c.(160-162)ACT>AAT	p.T54N	HIGD1A_uc010hid.2_Missense_Mutation_p.T68N|HIGD1A_uc003cmb.3_Missense_Mutation_p.T54N	NM_001099669	NP_001093139	Q9Y241	HIG1A_HUMAN	HIG1 domain family, member 1A isoform b	54	Extracellular (Potential).|HIG1.				response to stress	integral to membrane|protein complex	protein binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGACATTTTAGTATTTCCCCT	0.393000												
SNTN	132203	broad.mit.edu	37	3	63645450	63645450	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:63645450G>A	uc003dlr.2	+	3	215	c.195G>A	c.(193-195)CTG>CTA	p.L65L		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	65						cilium	calcium ion binding			ovary(1)	1						CCACTGCTCTGATTTTCAGAA	0.398000												
VGLL3	389136	broad.mit.edu	37	3	87027812	87027812	+	Silent	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:87027812G>T	uc003dqn.2	-	2	631	c.267C>A	c.(265-267)GTC>GTA	p.V89V		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTGAAAAGGACACAGCGAG	0.403000												
MRPL3	11222	broad.mit.edu	37	3	131181615	131181615	+	Silent	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:131181615A>G	uc003eoh.2	-	10	1163	c.999T>C	c.(997-999)TAT>TAC	p.Y333Y	MRPL3_uc011blo.1_Silent_p.Y228Y|MRPL3_uc011blp.1_Silent_p.Y360Y	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	333					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CGTTTTCATCATACAAATCTT	0.428000												
DNAJC13	23317	broad.mit.edu	37	3	132244599	132244599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:132244599C>T	uc003eor.2	+	52	6271	c.6206C>T	c.(6205-6207)GCC>GTC	p.A2069V		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2069							heat shock protein binding			ovary(1)|breast(1)	2						CCTAAGAGTGCCATTCGGGTT	0.448000												
CPB1	1360	broad.mit.edu	37	3	148545851	148545851	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:148545851C>A	uc003ewl.2	+	2	157	c.134C>A	c.(133-135)GCC>GAC	p.A45D		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	45					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGCGAGTTGGCCAGCACGACC	0.358000												
IGSF10	285313	broad.mit.edu	37	3	151155396	151155396	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:151155396T>C	uc011bod.1	-	6	6953	c.6953A>G	c.(6952-6954)GAA>GGA	p.E2318G	IGSF10_uc011bob.1_Missense_Mutation_p.E345G|IGSF10_uc011boc.1_Missense_Mutation_p.E297G	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2318	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTCCACCTTCATTTCGGGC	0.413000												
SI	6476	broad.mit.edu	37	3	164783102	164783102	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:164783102C>A	uc003fei.2	-	7	816	c.754G>T	c.(754-756)GAT>TAT	p.D252Y		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	252	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGATAAATCATGACGAAAT	0.348000										HNSCC(35;0.089)		
GHSR	2693	broad.mit.edu	37	3	172165569	172165569	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:172165569A>G	uc003fib.1	-	1	635	c.635T>C	c.(634-636)GTC>GCC	p.V212A	GHSR_uc011bpv.1_Missense_Mutation_p.V212A	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	212	Helical; Name=5; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCACACCATGACCGTGAGCAG	0.622000												
ALG3	10195	broad.mit.edu	37	3	183963008	183963008	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr3:183963008C>A	uc003fne.2	-	4	614	c.583G>T	c.(583-585)GGC>TGC	p.G195C	ALG3_uc011brc.1_Missense_Mutation_p.G160C|ALG3_uc011brd.1_Missense_Mutation_p.G139C|ALG3_uc011bre.1_Missense_Mutation_p.G147C|ALG3_uc003fnf.1_Missense_Mutation_p.G155C|ALG3_uc011brf.1_Missense_Mutation_p.G87C	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	195					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAACCCCAGCCCCAGCGCTGG	0.547000												
SCFD2	152579	broad.mit.edu	37	4	53752026	53752026	+	Missense_Mutation	SNP	C	C	T	rs141706393		TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:53752026C>T	uc003gzu.2	-	8	1984	c.1850G>A	c.(1849-1851)CGG>CAG	p.R617Q	SCFD2_uc010igm.2_Missense_Mutation_p.R572Q	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	617					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGATGAGGCCGGCTCACCTG	0.498000												
KIT	3815	broad.mit.edu	37	4	55589833	55589833	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:55589833G>C	uc010igr.2	+	8	1402	c.1315G>C	c.(1315-1317)GAT>CAT	p.D439H	KIT_uc010igs.2_Missense_Mutation_p.D439H	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	439	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCACAATAGATTGGTATTT	0.438000		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors			
PDE5A	8654	broad.mit.edu	37	4	120442088	120442088	+	Splice_Site	SNP	A	A	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:120442088A>C	uc003idh.2	-	13	2060	c.1905_splice	c.e13+1	p.Q635_splice	uc003ide.3_Intron|PDE5A_uc003idf.2_Splice_Site_p.Q593_splice|PDE5A_uc003idg.2_Splice_Site_p.Q583_splice|uc003idi.3_Intron	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1						platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCTAAAAAGTACCTGAATTTT	0.318000												
KIAA1109	84162	broad.mit.edu	37	4	123260416	123260416	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:123260416A>T	uc003ieh.2	+	70	12250	c.12205A>T	c.(12205-12207)AAG>TAG	p.K4069*	KIAA1109_uc003iem.2_Nonsense_Mutation_p.K425*|KIAA1109_uc003ien.2_Nonsense_Mutation_p.K3*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4069					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATGCATGTTAAAGCTGCCATC	0.413000												
ANKRD50	57182	broad.mit.edu	37	4	125590991	125590991	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:125590991C>G	uc003ifg.3	-	3	3707	c.3441G>C	c.(3439-3441)CAG>CAC	p.Q1147H	ANKRD50_uc011cgo.1_Missense_Mutation_p.Q968H|ANKRD50_uc010inw.2_Missense_Mutation_p.Q1147H	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1147	Ser-rich.									central_nervous_system(1)	1						GTAACGAAGGCTGCATATCCC	0.423000												
PCDH18	54510	broad.mit.edu	37	4	138452108	138452108	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr4:138452108C>A	uc003ihe.3	-	1	1522	c.1135G>T	c.(1135-1137)GTT>TTT	p.V379F	PCDH18_uc003ihf.3_Missense_Mutation_p.V372F|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V159F|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	379	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ACCAAAGCAACAAATGTATCA	0.363000												
PAPD7	11044	broad.mit.edu	37	5	6752990	6752990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:6752990G>A	uc003jdx.1	+	12	1403	c.1274G>A	c.(1273-1275)AGG>AAG	p.R425K	PAPD7_uc011cmn.1_Missense_Mutation_p.R416K|PAPD7_uc010itl.1_Missense_Mutation_p.R245K	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	425					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						TCCTAGACCAGGTTTACTATA	0.507000												
FAM134B	54463	broad.mit.edu	37	5	16477850	16477850	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:16477850G>C	uc003jfs.2	-	8	959	c.921C>G	c.(919-921)GAC>GAG	p.D307E	FAM134B_uc003jfr.2_Missense_Mutation_p.D166E	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	307					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3						CCTCTGAGACGTCTGTGTCAG	0.423000												
HCN1	348980	broad.mit.edu	37	5	45262712	45262712	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:45262712T>C	uc003jok.2	-	8	2009	c.1984A>G	c.(1984-1986)ACA>GCA	p.T662A		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	662	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGAGATTGTGTCCTCATGCGG	0.572000												
FAM81B	153643	broad.mit.edu	37	5	94756050	94756050	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:94756050C>T	uc003kla.1	+	5	646	c.600C>T	c.(598-600)CAC>CAT	p.H200H	FAM81B_uc010jbe.1_Translation_Start_Site	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	200										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TTGCAGTACACGAGATAAACA	0.403000												
KIF20A	10112	broad.mit.edu	37	5	137521738	137521738	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:137521738G>A	uc003lcj.2	+	17	2710	c.2214G>A	c.(2212-2214)CAG>CAA	p.Q738Q	KIF20A_uc011cyo.1_Silent_p.Q720Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	738	Potential.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGAGGGCCAGAAGGTAATTA	0.428000												
CXXC5	51523	broad.mit.edu	37	5	139060694	139060694	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:139060694G>A	uc010jfg.1	+	2	876	c.586G>A	c.(586-588)GTG>ATG	p.V196M	CXXC5_uc003let.2_Missense_Mutation_p.V196M	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	196					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGAGGCTGTGGCAGGTGC	0.627000												
PCDHA9	9752	broad.mit.edu	37	5	140230060	140230060	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140230060G>A	uc003lhu.2	+	1	2704	c.1980G>A	c.(1978-1980)ACG>ACA	p.T660T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.T660T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	660	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCTGACGGCCACGGCCA	0.697000												
PCDHB1	29930	broad.mit.edu	37	5	140431602	140431602	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140431602C>T	uc003lik.1	+	1	624	c.547C>T	c.(547-549)CGC>TGC	p.R183C		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	183	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACACCCGCTTCTGCAG	0.562000												
PCDHB3	56132	broad.mit.edu	37	5	140481581	140481581	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140481581G>A	uc003lio.2	+	1	1348	c.1348G>A	c.(1348-1350)GCC>ACC	p.A450T	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	450	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.562000												
PCDHB5	26167	broad.mit.edu	37	5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140515027C>T	uc003liq.2	+	1	228	c.11C>T	c.(10-12)GCG>GTG	p.A4V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458000												
PCDHGA2	56113	broad.mit.edu	37	5	140720421	140720421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140720421C>T	uc003ljk.1	+	1	2068	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T628M	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	628	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)			GAGGTGCGCACGGCGCGAGCC	0.682000												
PCDHGB7	56099	broad.mit.edu	37	5	140798932	140798932	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:140798932G>A	uc003lkn.1	+	1	1651	c.1506G>A	c.(1504-1506)TCG>TCA	p.S502S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.S502S|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	502	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCTGTCGTCCTACGTGT	0.657000												
IL17B	27190	broad.mit.edu	37	5	148754069	148754069	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:148754069G>A	uc003lqo.2	-	3	456	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	136					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	p.R136C(1)		central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATGCTGCGGTCCTCCTGC	0.692000												
GRIA1	2890	broad.mit.edu	37	5	153175110	153175110	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:153175110A>G	uc003lva.3	+	14	2710	c.2345A>G	c.(2344-2346)TAC>TGC	p.Y782C	GRIA1_uc003luy.3_Intron|GRIA1_uc003luz.3_Missense_Mutation_p.Y687C|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Intron|GRIA1_uc011dcy.1_Missense_Mutation_p.Y792C|GRIA1_uc011dcz.1_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	782	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAATGGTGGTACGATAAAGGG	0.478000												
JARID2	3720	broad.mit.edu	37	6	15496755	15496755	+	Silent	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:15496755G>T	uc003nbj.2	+	7	1543	c.1299G>T	c.(1297-1299)CTG>CTT	p.L433L	JARID2_uc011diu.1_Silent_p.L297L|JARID2_uc011div.1_Silent_p.L261L|JARID2_uc011diw.1_Silent_p.L395L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	433					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCTGCAGCTGCGGGAGGGGC	0.672000												
ATXN1	6310	broad.mit.edu	37	6	16326835	16326835	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:16326835C>T	uc003nbt.2	-	8	2678	c.1707G>A	c.(1705-1707)ACG>ACA	p.T569T	ATXN1_uc010jpi.2_Silent_p.T569T|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	569	Self-association.|Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGGGAGGCAGCGTAGGGGGAG	0.607000												
PGBD1	84547	broad.mit.edu	37	6	28270052	28270052	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:28270052G>A	uc003nky.2	+	7	2791	c.2421G>A	c.(2419-2421)CTG>CTA	p.L807L	PGBD1_uc003nkz.2_Silent_p.L807L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	807					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ATGCTCATCTGTCAGATTAGG	0.388000												
HLA-F	3134	broad.mit.edu	37	6	29694772	29694772	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:29694772C>T	uc003nno.3	+	7	1273	c.1149C>T	c.(1147-1149)GGC>GGT	p.G383G	HLA-F_uc011dlx.1_Silent_p.G383G|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GTGTCTTGGGCCGCCGGAAGG	0.512000												
KIFC1	3833	broad.mit.edu	37	6	33373066	33373066	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:33373066C>T	uc003oef.3	+	7	1644	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	KIFC1_uc011drf.1_Silent_p.A390A	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	398	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						TCCAGTCAGCCCTGGATGGCT	0.552000												
BTBD9	114781	broad.mit.edu	37	6	38561911	38561911	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:38561911C>T	uc003ooa.3	-	4	954	c.378G>A	c.(376-378)GAG>GAA	p.E126E	BTBD9_uc003ony.3_Silent_p.E58E|BTBD9_uc010jwv.2_Silent_p.E58E|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.E126E	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	126					cell adhesion						0						AGGTAGAATCCTCTAGCTCTG	0.443000												
KIF6	221458	broad.mit.edu	37	6	39398879	39398879	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:39398879G>T	uc003oot.2	-	14	1799	c.1704C>A	c.(1702-1704)GAC>GAA	p.D568E	KIF6_uc003oos.2_Missense_Mutation_p.D19E|KIF6_uc010jwz.1_Intron|KIF6_uc010jxa.1_Missense_Mutation_p.D359E|KIF6_uc011dua.1_Missense_Mutation_p.D568E|KIF6_uc010jxb.1_Missense_Mutation_p.D512E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	568				CQEAFEIFKRDHADSVTIDDNKQILKQ -> NATILSSLTG PGLQHFGEKIQFAPQEN (in Ref. 4; CAD89950).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TGTCAGCGTGGTCCCTCTTGA	0.512000												
USP49	25862	broad.mit.edu	37	6	41771588	41771588	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:41771588G>T	uc003ori.2	-	5	1739	c.1517C>A	c.(1516-1518)ACA>AAA	p.T506K		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	506					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGGCCTCTGTCTCTGTGAA	0.488000												
RUNX2	860	broad.mit.edu	37	6	45405709	45405709	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:45405709C>T	uc011dvx.1	+	5	816	c.606C>T	c.(604-606)ACC>ACT	p.T202T	RUNX2_uc011dvy.1_Silent_p.T202T|RUNX2_uc003oxt.2_Silent_p.T188T	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	202	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						TGACCATAACCGTCTTCACAA	0.388000												
C6orf170	221322	broad.mit.edu	37	6	121655563	121655563	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr6:121655563G>T	uc003pyo.1	-	1	82	c.14C>A	c.(13-15)TCC>TAC	p.S5Y	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	5					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		GTCCTCGCTGGAGAAATGGGC	0.517000												
C1GALT1	56913	broad.mit.edu	37	7	7283247	7283247	+	Silent	SNP	T	T	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:7283247T>G	uc010ktn.2	+	4	1204	c.981T>G	c.(979-981)CGT>CGG	p.R327R	C1GALT1_uc003sra.2_Silent_p.R327R|uc003srb.1_5'Flank	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	327	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATCATCTTCGTCCATATGGTT	0.343000												
DNAH11	8701	broad.mit.edu	37	7	21630827	21630827	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:21630827G>T	uc003svc.2	+	14	2330	c.2299G>T	c.(2299-2301)GTG>TTG	p.V767L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	767	Stem (By similarity).				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						TGACCTTCTTGTGCAAGGGTA	0.403000									Kartagener_syndrome			
GLI3	2737	broad.mit.edu	37	7	42065827	42065827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:42065827C>T	uc011kbh.1	-	8	1304	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	GLI3_uc011kbg.1_Missense_Mutation_p.V346I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	405					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCGGAGCTGACCTGGACGGGG	0.627000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
KIAA1324L	222223	broad.mit.edu	37	7	86542517	86542517	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:86542517T>A	uc011kha.1	-	14	1920	c.1735A>T	c.(1735-1737)AGA>TGA	p.R579*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.R339*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.R465*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.R412*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	579	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					ATGAACCGTCTATTCTAAAAA	0.413000												
TAF6	6878	broad.mit.edu	37	7	99711237	99711237	+	Splice_Site	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:99711237A>G	uc003uti.2	-	4	478	c.397_splice	c.e4+1	p.A133_splice	TAF6_uc003utg.2_Splice_Site_p.A74_splice|TAF6_uc003uth.2_Splice_Site_p.A190_splice|TAF6_uc003utk.2_Splice_Site_p.A133_splice|TAF6_uc011kji.1_Splice_Site_p.A170_splice|TAF6_uc003utj.2_Splice_Site_p.A123_splice|TAF6_uc003utl.2_Splice_Site_p.A133_splice|TAF6_uc003utm.2_Splice_Site_p.A133_splice|TAF6_uc003utn.1_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTCCCCCAACCTTTGAGGC	0.572000												
CREB3L2	64764	broad.mit.edu	37	7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:137565290C>T	uc003vtw.2	-	12	1890	c.1495G>A	c.(1495-1497)GCC>ACC	p.A499T	CREB3L2_uc003vtv.2_Missense_Mutation_p.A436T	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	499	Lumenal (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						TCCAGTTTGGCGCTGACCCTG	0.458000			T	FUS	fibromyxoid sarcoma							
NEFM	4741	broad.mit.edu	37	8	24771915	24771915	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:24771915C>T	uc003xed.3	+	1	642	c.609C>T	c.(607-609)ATC>ATT	p.I203I	NEFM_uc011lac.1_Silent_p.I203I|NEFM_uc010lue.2_5'Flank|uc010luc.1_Silent_p.R51R	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	203	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGCGGCCATCCGCGCGCTGC	0.647000												
CHRNA2	1135	broad.mit.edu	37	8	27320871	27320871	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:27320871G>A	uc010lur.2	-	6	1698	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	CHRNA2_uc011lal.1_Silent_p.P348P|CHRNA2_uc010lus.2_Silent_p.P165P	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	363	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCACCCAGTGGGGCATGGTGT	0.647000												
CRISPLD1	83690	broad.mit.edu	37	8	75927084	75927084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:75927084C>T	uc003yan.2	+	6	1039	c.664C>T	c.(664-666)CGG>TGG	p.R222W	CRISPLD1_uc011lfk.1_Missense_Mutation_p.R34W|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R34W	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	222						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAACATGGGCGGCCCTGTTC	0.423000												
KCNS2	3788	broad.mit.edu	37	8	99441398	99441398	+	Silent	SNP	A	A	G			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:99441398A>G	uc003yin.2	+	2	1541	c.1191A>G	c.(1189-1191)GCA>GCG	p.A397A		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	397	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCATCTTGGCAGGCATCCTCG	0.582000												
UBR5	51366	broad.mit.edu	37	8	103297906	103297906	+	Silent	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:103297906G>A	uc003ykr.1	-	39	5352	c.5319C>T	c.(5317-5319)AAC>AAT	p.N1773N	UBR5_uc003yks.1_Silent_p.N1773N	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1773					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AACTGCTGGCGTTGCTAGCTT	0.463000												
TNFRSF11B	4982	broad.mit.edu	37	8	119941043	119941043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:119941043T>A	uc003yon.3	-	3	849	c.526A>T	c.(526-528)AAA>TAA	p.K176*	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	176	TNFR-Cys 4.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCATTTCCTTTCTGAGTTAGC	0.388000												
AGTPBP1	23287	broad.mit.edu	37	9	88207528	88207528	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr9:88207528C>A	uc011ltd.1	-	18	2548	c.2515G>T	c.(2515-2517)GAT>TAT	p.D839Y	AGTPBP1_uc004aod.3_Missense_Mutation_p.D465Y|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.D799Y|AGTPBP1_uc011lte.1_Missense_Mutation_p.D851Y	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	839					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CAAACATCATCTTTATGTGGA	0.303000												
PTCH1	5727	broad.mit.edu	37	9	98232138	98232138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr9:98232138G>A	uc004avk.3	-	13	1992	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	PTCH1_uc010mro.2_Nonsense_Mutation_p.R451*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.R451*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.R451*|PTCH1_uc004avl.3_Nonsense_Mutation_p.R451*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.R536*|PTCH1_uc004avm.3_Nonsense_Mutation_p.R601*|PTCH1_uc010mrs.1_Nonsense_Mutation_p.R270*	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	602	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R602*(4)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTCGCGTCGATATAAATCC	0.443000									Basal_Cell_Nevus_syndrome			
OR1L1	26737	broad.mit.edu	37	9	125424489	125424489	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr9:125424489G>T	uc011lza.1	+	1	645	c.645G>T	c.(643-645)CAG>CAT	p.Q215H		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	215	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGACTAATCAGCTCATCTTCT	0.433000												
P2RY10	27334	broad.mit.edu	37	X	78216284	78216284	+	Silent	SNP	C	C	T			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chrX:78216284C>T	uc004ede.2	+	4	636	c.267C>T	c.(265-267)CTC>CTT	p.L89L	P2RY10_uc004edf.2_Silent_p.L89L	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	89	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CTTTACCCCTCCGGATTTACT	0.453000												
TP53	7157	broad.mit.edu	37	17	7577606	7577606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr17:7577606delA	uc002gim.2	-	7	869	c.675delT	c.(673-675)GTTfs	p.V225fs	TP53_uc002gig.1_Frame_Shift_Del_p.V225fs|TP53_uc002gih.2_Frame_Shift_Del_p.V225fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V93fs|TP53_uc010cng.1_Frame_Shift_Del_p.V93fs|TP53_uc002gii.1_Frame_Shift_Del_p.V93fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V225fs|TP53_uc010cni.1_Frame_Shift_Del_p.V225fs|TP53_uc002gij.2_Frame_Shift_Del_p.V225fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.V132fs|TP53_uc002gio.2_Frame_Shift_Del_p.V93fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	225	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> F (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.V225A(3)|p.V225F(2)|p.V225_S227delVGS(2)|p.V225I(1)|p.V225D(1)|p.V225>XXXXXXXXXXXXXXXXXXXXXXXX(1)|p.V225fs*3(1)|p.E224_V225insXX(1)|p.V225fs*24(1)|p.V225fs*23(1)|p.V225fs*22(1)|p.V225V(1)|p.V225_G226delVG(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)		AGTCAGAGCCAACCTAGGAGA	0.493		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)		
MYO10	4651	broad.mit.edu	37	5	16780678	16780678	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr5:16780678delG	uc003jft.3	-	8	1249	c.781delC	c.(781-783)CACfs	p.H261fs		NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	261	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TAAAATATGTGATAATTCCTT	0.413												
MLL5	55904	broad.mit.edu	37	7	104715218	104715219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr7:104715217_104715218G>GA	uc003vcm.3	+	7	1218_1219	c.684_685G>GA	c.(682-687)aggaaafs	p.R228fs	MLL5_uc010lja.1_Frame_Shift_Ins_p.R82fs|MLL5_uc010ljb.1_Frame_Shift_Ins_p.R228fs|MLL5_uc003vcl.3_Frame_Shift_Ins_p.R228fs|MLL5_uc010ljc.3_Frame_Shift_Ins_p.R228fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	228					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAAAAGAAGGAAAAAAAGCGG	0.356												
UBR5	51366	broad.mit.edu	37	8	103324612	103324614	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:103324611_103324613GAGA>G	uc003ykr.2	-	16	2563_2565	c.2108_2110TCTC>C	c.(2107-2112)tctctc>tCtc	p.L705del	UBR5_uc003yks.2_In_Frame_Del_p.L705del	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	705					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCTGCAGGAGAGAAGAAGGGTC	0.404												
LRRC24	441381	broad.mit.edu	37	8	145749636	145749638	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-8683-01A-11D-2394-08	TCGA-BR-8683-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8	aebed280-af70-496f-a1b4-f441f6e6a82e	g.chr8:145749635_145749637TTTC>T	uc003zdm.3	-	3	596_598	c.464_466GAAA>A	c.(463-468)gaaaac>gAac	p.N156del	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	156						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAATGCTGTTTTCTTGCAGGTG	0.586