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
UBXN11	91544	broad.mit.edu	37	1	26612350	26612350	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:26612350G>A	uc001blw.2	-	10	1011	c.738C>T	c.(736-738)GAC>GAT	p.D246D	UBXN11_uc001blz.1_Silent_p.D213D|UBXN11_uc001blv.2_Silent_p.D208D|UBXN11_uc001bly.2_Silent_p.D126D|UBXN11_uc001blx.2_Silent_p.D4D|UBXN11_uc001bma.2_Silent_p.D213D|UBXN11_uc001bmb.1_Silent_p.D246D|UBXN11_uc010ofb.1_Silent_p.D171D|UBXN11_uc010ofc.1_Silent_p.D88D	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	246	SEP.					cytoplasm|cytoskeleton				ovary(1)	1						GGAAGGGCCCGTCGAACATCA	0.637000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL16A1	1307	broad.mit.edu	37	1	32138096	32138096	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:32138096T>C	uc001btk.1	-	47	3391	c.3026A>G	c.(3025-3027)AAC>AGC	p.N1009S	COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Missense_Mutation_p.N822S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1009	Nonhelical region 3 (NC3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCTCACTGTTGTCACCCTG	0.607000												
ZMYM4	9202	broad.mit.edu	37	1	35824984	35824984	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:35824984C>T	uc001byt.2	+	3	624	c.544C>T	c.(544-546)CGG>TGG	p.R182W	ZMYM4_uc009vuu.2_Missense_Mutation_p.R150W|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Translation_Start_Site	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	182					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGTGAAAAACGGTTGGATAA	0.318000												
MACF1	23499	broad.mit.edu	37	1	39800562	39800562	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:39800562G>A	uc010oiu.1	+	1	3753	c.3622G>A	c.(3622-3624)GAT>AAT	p.D1208N	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2773					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGTTCAGCGATCACAGGGC	0.378000												
LEPR	3953	broad.mit.edu	37	1	66101927	66101927	+	Silent	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:66101927T>C	uc001dci.2	+	20	2929	c.2727T>C	c.(2725-2727)GGT>GGC	p.G909G	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	909	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGACATGTGGTCCTCTTCTTT	0.348000												
LRRC40	55631	broad.mit.edu	37	1	70618204	70618204	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:70618204C>A	uc001der.1	-	12	1403	c.1351G>T	c.(1351-1353)GTT>TTT	p.V451F		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	451	LRR 15.									ovary(1)	1						ACATCAGAAACCATTTCCTTC	0.328000												
ZRANB2	9406	broad.mit.edu	37	1	71536585	71536585	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:71536585C>T	uc001dft.2	-	7	675	c.608G>A	c.(607-609)CGC>CAC	p.R203H	ZRANB2_uc001dfs.2_Missense_Mutation_p.R203H	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	203	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						AGACTTTGAGCGACTTCGTCT	0.418000												
MSH4	4438	broad.mit.edu	37	1	76378529	76378529	+	Missense_Mutation	SNP	A	A	T	rs138824189		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:76378529A>T	uc001dhd.1	+	20	2809	c.2768A>T	c.(2767-2769)GAT>GTT	p.D923V		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	923					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						TACAAAGAAGATTTTCCCAGG	0.328000								MMR				
ST6GALNAC3	256435	broad.mit.edu	37	1	76779494	76779494	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:76779494A>C	uc001dhh.2	+	2	186	c.23A>C	c.(22-24)AAG>ACG	p.K8T	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.K8T|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	8	Cytoplasmic (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						TTGTAGAGAAAGTCTGTGATT	0.378000												
ZZZ3	26009	broad.mit.edu	37	1	78097749	78097749	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:78097749C>G	uc001dhq.2	-	5	1767	c.1291G>C	c.(1291-1293)GGT>CGT	p.G431R	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.G431R|ZZZ3_uc001dhp.2_Missense_Mutation_p.G431R	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						GAAATTTCACCAGGATTTGTA	0.353000												
SYCP1	6847	broad.mit.edu	37	1	115527485	115527485	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:115527485T>G	uc001efr.2	+	30	2908	c.2699T>G	c.(2698-2700)CTT>CGT	p.L900R	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.L900R|SYCP1_uc009wgw.2_Missense_Mutation_p.L875R	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	900					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		ACTACTGATCTTTTGGtaaaa	0.209000												
NGF	4803	broad.mit.edu	37	1	115829179	115829179	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:115829179G>A	uc001efu.1	-	3	407	c.238C>T	c.(238-240)CGG>TGG	p.R80W		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	80					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		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)	Clenbuterol(DB01407)	CGGAGTCGCCGCTTTTTAAAC	0.647000												
FLG	2312	broad.mit.edu	37	1	152279959	152279959	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:152279959G>C	uc001ezu.1	-	3	7439	c.7403C>G	c.(7402-7404)TCA>TGA	p.S2468*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2468	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACTGCTTGACCCCGGGTG	0.567000									Ichthyosis			
PBXIP1	57326	broad.mit.edu	37	1	154926160	154926160	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:154926160A>C	uc001ffr.2	-	2	97	c.38T>G	c.(37-39)CTT>CGT	p.L13R	PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	13					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGCCAGCAAGCACCCAGCT	0.587000												
FCRL3	115352	broad.mit.edu	37	1	157668284	157668284	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:157668284T>G	uc001frb.2	-	4	480	c.188A>C	c.(187-189)AAG>ACG	p.K63T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.K63T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.K63T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	63	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TTTCAACAACTTCTCATCGTG	0.453000												
CD1E	913	broad.mit.edu	37	1	158324300	158324300	+	Silent	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:158324300T>C	uc001fse.2	+	2	431	c.192T>C	c.(190-192)ACT>ACC	p.T64T	CD1E_uc010pid.1_Silent_p.T62T|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.T64T|CD1E_uc001fsk.2_Silent_p.T64T|CD1E_uc001fsj.2_Silent_p.T64T|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.T64T|CD1E_uc001fry.2_Silent_p.T64T|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.T64T|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.T64T|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	64					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					ACCTGCAGACTCATGGCTGGG	0.562000												
SPTA1	6708	broad.mit.edu	37	1	158627318	158627318	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:158627318C>A	uc001fst.1	-	19	2953	c.2754G>T	c.(2752-2754)AAG>AAT	p.K918N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	918	Spectrin 10.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAATAGGTTCCTTCTCTCTGA	0.473000												
USP21	27005	broad.mit.edu	37	1	161133410	161133410	+	Splice_Site	SNP	G	G	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:161133410G>C	uc010pke.1	+	8	1490	c.1113_splice	c.e8+2	p.V371_splice	USP21_uc010pkc.1_Splice_Site_p.D372_splice|USP21_uc010pkd.1_Splice_Site_p.D372_splice|USP21_uc010pkf.1_Splice_Site_p.V371_splice|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21						histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGATTGTGGGTATGGAATGG	0.502000												
C1orf156	92342	broad.mit.edu	37	1	169762587	169762587	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:169762587T>G	uc001ggn.2	-	2	528	c.250A>C	c.(250-252)AGT>CGT	p.S84R	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	84						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCTTGAACTGCTGGCTGCA	0.443000												
FMO3	2328	broad.mit.edu	37	1	171076927	171076927	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:171076927G>C	uc001ghi.2	+	4	544	c.433G>C	c.(433-435)GTT>CTT	p.V145L	FMO3_uc001ghh.2_Missense_Mutation_p.V145L|FMO3_uc010pmb.1_Missense_Mutation_p.V125L|FMO3_uc010pmc.1_Missense_Mutation_p.V82L	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	145					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTAATGGTTTGTTCCGG	0.408000												
GPR52	9293	broad.mit.edu	37	1	174418038	174418038	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:174418038C>T	uc001gka.1	+	1	827	c.789C>T	c.(787-789)TAC>TAT	p.Y263Y	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	263	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						ACCGTCGCTACGCCATGGTTT	0.468000												
GLT25D2	23127	broad.mit.edu	37	1	183908121	183908121	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:183908121G>T	uc001gqr.2	-	12	2027	c.1655C>A	c.(1654-1656)GCA>GAA	p.A552E	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.A160E|GLT25D2_uc001gqq.2_Missense_Mutation_p.A289E|GLT25D2_uc001gqs.2_Missense_Mutation_p.A432E	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	552					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CAAGGGTTCTGCAGAGAAGGC	0.552000												
CFH	3075	broad.mit.edu	37	1	196642135	196642135	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:196642135A>C	uc001gtj.3	+	2	326	c.86A>C	c.(85-87)AAT>ACT	p.N29T	CFH_uc001gti.3_Missense_Mutation_p.N29T|CFH_uc009wyw.2_Missense_Mutation_p.N29T|CFH_uc009wyx.2_Missense_Mutation_p.N29T	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	29	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CCAAGAAGAAATACAGAAATT	0.358000												
CFHR4	10877	broad.mit.edu	37	1	196884189	196884189	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:196884189C>G	uc001gto.2	+	5	789	c.720C>G	c.(718-720)TGC>TGG	p.C240W	CFHR4_uc009wyy.2_Missense_Mutation_p.C486W|CFHR4_uc001gtp.2_Missense_Mutation_p.C487W	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	240	Sushi 4.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						AGTACCAATGCCAGTCCTACT	0.423000												
PTPRC	5788	broad.mit.edu	37	1	198678858	198678858	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:198678858T>G	uc001gur.1	+	11	1250	c.1070T>G	c.(1069-1071)CTT>CGT	p.L357R	PTPRC_uc001gus.1_Missense_Mutation_p.L309R|PTPRC_uc001gut.1_Missense_Mutation_p.L196R|PTPRC_uc009wzf.1_Missense_Mutation_p.L245R|PTPRC_uc010ppg.1_Missense_Mutation_p.L293R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	357	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TTAGAAAACCTTGAACCCGAA	0.279000												
CENPF	1063	broad.mit.edu	37	1	214819369	214819369	+	Silent	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:214819369T>G	uc001hkm.2	+	13	6630	c.6456T>G	c.(6454-6456)CTT>CTG	p.L2152L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2248	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGATTCACTTAAGGATAAAG	0.453000												
USH2A	7399	broad.mit.edu	37	1	216420386	216420386	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:216420386A>C	uc001hku.1	-	13	2737	c.2350T>G	c.(2350-2352)TTT>GTT	p.F784V	USH2A_uc001hkv.2_Missense_Mutation_p.F784V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	784	Laminin EGF-like 5.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACCCATAAAAGTTTTCTCTG	0.488000										HNSCC(13;0.011)		
ACTA1	58	broad.mit.edu	37	1	229567787	229567787	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:229567787G>A	uc001htm.2	-	5	867	c.762C>T	c.(760-762)AAC>AAT	p.N254N		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	254					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGAAGCGCTCGTTGCCGATGG	0.542000												
TARBP1	6894	broad.mit.edu	37	1	234528274	234528274	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:234528274A>G	uc001hwd.2	-	29	4585	c.4585T>C	c.(4585-4587)TAT>CAT	p.Y1529H		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1529					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGCTGCAGATAATCAATTAGC	0.348000												
GREM2	64388	broad.mit.edu	37	1	240656630	240656630	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:240656630A>T	uc001hys.2	-	2	426	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	49					BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACCTCCTTGATCTGGTGCTG	0.657000												
NEBL	10529	broad.mit.edu	37	10	21104607	21104607	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:21104607T>G	uc001iqi.2	-	22	2585	c.2188A>C	c.(2188-2190)AGT>CGT	p.S730R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	730	Nebulin 21.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GGAGTTACACTTAAAGTGGTA	0.333000												
FZD8	8325	broad.mit.edu	37	10	35928888	35928888	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:35928888G>A	uc001iyz.1	-	1	1475	c.1470C>T	c.(1468-1470)GTC>GTT	p.V490V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	490	Helical; Name=5; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						AGAGGTAGATGACCAGCGGCG	0.662000												
ANKRD30A	91074	broad.mit.edu	37	10	37482012	37482012	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:37482012T>G	uc001iza.1	+	26	2464	c.2365T>G	c.(2365-2367)TTT>GTT	p.F789V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	845						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TAATGATGGTTTTCTGAAGGT	0.284000												
PCDH15	65217	broad.mit.edu	37	10	55626456	55626456	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:55626456T>G	uc001jju.1	-	27	4058	c.3663A>C	c.(3661-3663)CAA>CAC	p.Q1221H	PCDH15_uc010qhq.1_Missense_Mutation_p.Q1226H|PCDH15_uc010qhr.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qhs.1_Missense_Mutation_p.Q1233H|PCDH15_uc010qht.1_Missense_Mutation_p.Q1228H|PCDH15_uc010qhu.1_Missense_Mutation_p.Q1221H|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1184H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1150H|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1226H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qia.1_Missense_Mutation_p.Q1199H|PCDH15_uc010qib.1_Missense_Mutation_p.Q1199H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1221	Cadherin 11.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCAATAACTTGAAACTTGA	0.408000										HNSCC(58;0.16)		
ARID5B	84159	broad.mit.edu	37	10	63852409	63852409	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:63852409G>A	uc001jlt.1	+	10	3213	c.3187G>A	c.(3187-3189)GGG>AGG	p.G1063R		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1063					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGGCATTCCGGGGGCGGATC	0.612000												
SLC25A16	8034	broad.mit.edu	37	10	70248271	70248271	+	Silent	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:70248271T>G	uc001joi.2	-	7	1178	c.726A>C	c.(724-726)GTA>GTC	p.V242V	SLC25A16_uc010qix.1_Silent_p.V108V|SLC25A16_uc010qiy.1_Silent_p.V144V|SLC25A16_uc001joj.2_Silent_p.V144V	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	242	Solcar 3.				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						AAAGTAAGTTTACATGAGTTT	0.393000												
ACTA2	59	broad.mit.edu	37	10	90708675	90708675	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:90708675C>G	uc001kfp.2	-	2	129	c.13G>C	c.(13-15)GAG>CAG	p.E5Q	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.E5Q|ACTA2_uc010qmz.1_Missense_Mutation_p.E5Q	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	5					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTGCTGTCCTCTTCTTCACAC	0.532000												
EIF3A	8661	broad.mit.edu	37	10	120810145	120810145	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:120810145C>G	uc001ldu.2	-	16	2507	c.2361G>C	c.(2359-2361)AGG>AGC	p.R787S	EIF3A_uc010qsu.1_Missense_Mutation_p.R753S|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	787	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCGATTATGCCTTTCTTCTG	0.428000												
OR51A4	401666	broad.mit.edu	37	11	4967855	4967855	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:4967855A>C	uc010qys.1	-	1	476	c.476T>G	c.(475-477)CTT>CGT	p.L159R		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGAAGGGAAGAACCAGGAG	0.438000												
OR52A5	390054	broad.mit.edu	37	11	5153446	5153446	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:5153446A>C	uc010qyx.1	-	1	427	c.427T>G	c.(427-429)TTA>GTA	p.L143V		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGAGTTAAGAACTGCTGG	0.478000												
HBE1	3046	broad.mit.edu	37	11	5289717	5289717	+	Silent	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:5289717C>G	uc001mal.1	-	3	679	c.426G>C	c.(424-426)CTG>CTC	p.L142L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L142L	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	142					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTATGGGCCAGGGCAATGG	0.547000												
OR52E4	390081	broad.mit.edu	37	11	5905963	5905963	+	Silent	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:5905963T>G	uc010qzs.1	+	1	441	c.441T>G	c.(439-441)GCT>GCG	p.A147A	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATCCTAGCTTCTGTGGTTG	0.448000												
OR2D3	120775	broad.mit.edu	37	11	6942315	6942315	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:6942315T>G	uc010rav.1	+	1	83	c.83T>G	c.(82-84)TTT>TGT	p.F28C		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	28	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGTCCAAGTTTATCTTCCTG	0.413000												
OR2D3	120775	broad.mit.edu	37	11	6942465	6942465	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:6942465T>G	uc010rav.1	+	1	233	c.233T>G	c.(232-234)TTT>TGT	p.F78C		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGTATTTTTTTCTTAGAAAT	0.398000												
NELL1	4745	broad.mit.edu	37	11	20949921	20949921	+	Splice_Site	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:20949921A>G	uc001mqe.2	+	9	1048	c.895_splice	c.e9-2	p.S299_splice	NELL1_uc001mqf.2_Splice_Site_p.S299_splice|NELL1_uc009yid.2_Splice_Site_p.S327_splice|NELL1_uc010rdo.1_Splice_Site_p.S242_splice|NELL1_uc010rdp.1_Splice_Site_p.S59_splice	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TTCCTTCCTCAGAGTGGTGCC	0.512000												
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:55703186G>A	uc010ris.1	-	1	691	c.691C>T	c.(691-693)CGC>TGC	p.R231C		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTGAAAGAGCGGATCTTTAAG	0.453000												
TBX10	347853	broad.mit.edu	37	11	67399229	67399229	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:67399229C>T	uc001omp.2	-	8	1093	c.1005G>A	c.(1003-1005)CCG>CCA	p.P335P	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	335					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTAGGTGGCTCGGGGCTCCAG	0.652000												
FOLH1B	219595	broad.mit.edu	37	11	89402649	89402649	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:89402649T>A	uc001pda.2	+	3	599	c.73T>A	c.(73-75)TTT>ATT	p.F25I		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	25					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TGGACCTGGCTTTACTGGAAA	0.373000												
FAT3	120114	broad.mit.edu	37	11	92533693	92533693	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:92533693T>C	uc001pdj.3	+	9	7531	c.7514T>C	c.(7513-7515)GTG>GCG	p.V2505A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2505	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAGCTGAGGTGAGAGAGAAC	0.493000										TCGA Ovarian(4;0.039)		
AMOTL1	154810	broad.mit.edu	37	11	94532886	94532886	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:94532886G>A	uc001pfb.2	+	3	700	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	AMOTL1_uc001pfc.2_Missense_Mutation_p.R127Q	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	177						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AAACAGGTCCGGTCCACGCAG	0.498000												
POU2F3	25833	broad.mit.edu	37	11	120180199	120180199	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:120180199G>A	uc001pxc.2	+	10	1074	c.972G>A	c.(970-972)GTG>GTA	p.V324V	POU2F3_uc010rzk.1_Silent_p.V278V|POU2F3_uc010rzl.1_Silent_p.V254V|POU2F3_uc001pxe.1_Silent_p.V109V	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	324	Homeobox.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGAAGGAGGTGGTGAGGGTCT	0.547000												
OR6X1	390260	broad.mit.edu	37	11	123624580	123624580	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:123624580T>C	uc010rzy.1	-	1	647	c.647A>G	c.(646-648)TAT>TGT	p.Y216C		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATGTAGATATAAGAAATCAT	0.483000												
CLEC2D	29121	broad.mit.edu	37	12	9847365	9847365	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:9847365C>T	uc001qwg.1	+	5	493	c.471C>T	c.(469-471)ATC>ATT	p.I157I	CLEC2D_uc001qwf.1_Missense_Mutation_p.P185S|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Missense_Mutation_p.P81S	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	157	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						GGTTTCCTATCCTGGGAGCAG	0.423000												
CD69	969	broad.mit.edu	37	12	9907796	9907796	+	Silent	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:9907796A>C	uc001qwk.2	-	3	330	c.249T>G	c.(247-249)TCT>TCG	p.S83S	CD69_uc010sgu.1_Silent_p.S83S|CD69_uc010sgv.1_Silent_p.S83S	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	83	Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						CAGAGCATGAAGAAACATGGC	0.423000												
PTPRO	5800	broad.mit.edu	37	12	15636953	15636953	+	Missense_Mutation	SNP	G	G	C	rs141750255		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:15636953G>C	uc001rcv.1	+	2	295	c.121G>C	c.(121-123)GTT>CTT	p.V41L	PTPRO_uc001rcw.1_Missense_Mutation_p.V41L|PTPRO_uc001rcu.1_Missense_Mutation_p.V41L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	41	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TAATAACATCGTTGTCTCATT	0.348000												
SLCO1B3	28234	broad.mit.edu	37	12	21033859	21033859	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:21033859A>C	uc001rek.2	+	11	1528	c.1402A>C	c.(1402-1404)AGT>CGT	p.S468R	SLCO1B3_uc001rel.2_Missense_Mutation_p.S468R|SLCO1B3_uc010sil.1_Missense_Mutation_p.S468R|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.S293R	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	468	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TTGTGATGAAAGTCAGTGGGA	0.368000												
LST-3TM12	338821	broad.mit.edu	37	12	21205069	21205069	+	Silent	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:21205069T>G	uc010sin.1	+	9	1230	c.1230T>G	c.(1228-1230)TCT>TCG	p.S410S	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.S457S	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	410						membrane	transporter activity				0						TACCACTTTCTTATTGCAACT	0.308000												
IAPP	3375	broad.mit.edu	37	12	21526276	21526276	+	Translation_Start_Site	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:21526276T>G	uc001rev.2	+	2	143	c.-9T>G	c.(-11--7)ATTTG>ATGTG		SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor						apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)	TGCAGAAAATTTGAGAAGCAA	0.343000												
ESPL1	9700	broad.mit.edu	37	12	53686075	53686075	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:53686075C>T	uc001sck.2	+	28	5901	c.5810C>T	c.(5809-5811)CCA>CTA	p.P1937L	ESPL1_uc001scj.2_Missense_Mutation_p.P1612L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1937					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GGGGCCTCGCCAGTGCTGAGT	0.527000												
OR6C3	254786	broad.mit.edu	37	12	55725817	55725817	+	Silent	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:55725817T>C	uc010spj.1	+	1	333	c.333T>C	c.(331-333)ATT>ATC	p.I111I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AATTTTACATTTTAACTGCCA	0.428000												
PTPRB	5787	broad.mit.edu	37	12	70918302	70918302	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:70918302C>G	uc001swb.3	-	31	5950	c.5920G>C	c.(5920-5922)GAA>CAA	p.E1974Q	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1884Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1884Q|PTPRB_uc001swc.3_Missense_Mutation_p.E2192Q|PTPRB_uc001swa.3_Missense_Mutation_p.E2104Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1974	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGGGGTTTTCTTGTTCACTC	0.428000												
ATP2B1	490	broad.mit.edu	37	12	90017964	90017964	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:90017964A>G	uc001tbh.2	-	8	1521	c.1340T>C	c.(1339-1341)GTC>GCC	p.V447A	ATP2B1_uc001tbg.2_Missense_Mutation_p.V447A|ATP2B1_uc001tbf.2_Missense_Mutation_p.V117A	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	447	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ACTTACTTTGACTGAATAAGC	0.388000												
DAO	1610	broad.mit.edu	37	12	109294277	109294277	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:109294277A>C	uc001tnr.3	+	11	1163	c.1010A>C	c.(1009-1011)AAG>ACG	p.K337T	DAO_uc001tnq.3_Missense_Mutation_p.K271T|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	337					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						CTGGAAGAAAAGAAATTGTCC	0.542000												
RBM19	9904	broad.mit.edu	37	12	114397059	114397059	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:114397059C>G	uc009zwi.2	-	5	673	c.529G>C	c.(529-531)GGG>CGG	p.G177R	RBM19_uc001tvn.3_Missense_Mutation_p.G177R|RBM19_uc001tvm.2_Missense_Mutation_p.G177R	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	177					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCTCCTGCCCAGAATCGGAG	0.627000												
RIMBP2	23504	broad.mit.edu	37	12	130884319	130884319	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:130884319A>C	uc001uil.2	-	18	3201	c.3037T>G	c.(3037-3039)TTC>GTC	p.F1013V		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1013	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTTCCAAGAAGTTTGAGGGC	0.463000												
B3GALTL	145173	broad.mit.edu	37	13	31803342	31803342	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:31803342G>A	uc010aaz.2	+	4	291	c.181G>A	c.(181-183)GTC>ATC	p.V61I		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	61	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AATTGTATTCGTCATCCAGAG	0.303000												
DCLK1	9201	broad.mit.edu	37	13	36686298	36686298	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:36686298T>C	uc001uvf.2	-	3	664	c.431A>G	c.(430-432)AAG>AGG	p.K144R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	144					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTTCACATTCTTGGTGTACTC	0.463000												
OLFM4	10562	broad.mit.edu	37	13	53624669	53624669	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:53624669C>T	uc001vhl.2	+	5	1296	c.1296C>T	c.(1294-1296)AAC>AAT	p.N432N	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	432	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTGCTTCTAACGCCTTCATGG	0.428000												
EDNRB	1910	broad.mit.edu	37	13	78475270	78475270	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:78475270A>G	uc001vko.2	-	4	1132	c.874T>C	c.(874-876)TTT>CTT	p.F292L	EDNRB_uc001vkq.1_Missense_Mutation_p.F292L|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.F292L|EDNRB_uc001vkp.1_Missense_Mutation_p.F375L	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	292	Helical; Name=5; (Potential).		F -> L (in WS4A).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGTGTATAAAAAAATGCAGTG	0.338000												
EDNRB	1910	broad.mit.edu	37	13	78492440	78492440	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:78492440C>T	uc001vko.2	-	1	527	c.269G>A	c.(268-270)TGC>TAC	p.C90Y	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.C90Y|EDNRB_uc010aez.1_Missense_Mutation_p.C90Y|EDNRB_uc001vkp.1_Missense_Mutation_p.C173Y|EDNRB_uc010afa.1_Missense_Mutation_p.C90Y	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	90	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGGTCCTTGGCACGGGGGAGG	0.592000												
SLITRK6	84189	broad.mit.edu	37	13	86370123	86370123	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:86370123C>T	uc001vll.1	-	2	980	c.521G>A	c.(520-522)AGT>AAT	p.S174N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	174	LRR 4.|Extracellular (Potential).					integral to membrane				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)		TGGAGGAAGACTCTCAATAGC	0.363000												
PNN	5411	broad.mit.edu	37	14	39649857	39649857	+	Missense_Mutation	SNP	G	G	A	rs144685853		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:39649857G>A	uc001wuw.3	+	9	1041	c.944G>A	c.(943-945)CGA>CAA	p.R315Q		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	315	Potential.|Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTGGCTCAGCGAGAGGAAGAG	0.343000												
MDGA2	161357	broad.mit.edu	37	14	47601018	47601018	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:47601018A>C	uc001wwj.3	-	5	813	c.617T>G	c.(616-618)CTT>CGT	p.L206R	MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	206	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CTGAGGTCGAAGATTCTTTAG	0.323000												
ESR2	2100	broad.mit.edu	37	14	64699876	64699876	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:64699876G>A	uc001xha.1	-	9	2040	c.1572C>T	c.(1570-1572)TCC>TCT	p.S524S	ESR2_uc001xgu.2_Intron|ESR2_uc001xgv.2_Intron|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Intron|ESR2_uc001xgy.1_Intron|ESR2_uc001xgz.1_3'UTR|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.S433S	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	524	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGGGTTCTGGGAGCCCTCTT	0.612000												
TRIP11	9321	broad.mit.edu	37	14	92471267	92471267	+	Missense_Mutation	SNP	G	G	A	rs147257207		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:92471267G>A	uc001xzy.2	-	11	3841	c.3053C>T	c.(3052-3054)ACG>ATG	p.T1018M	TRIP11_uc010auf.1_Missense_Mutation_p.T754M	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1018	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TAATCTTTCCGTTTCAGCTTT	0.299000			T	PDGFRB	AML							
SERPINA3	12	broad.mit.edu	37	14	95089967	95089967	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:95089967T>G	uc001ydp.2	+	5	1167	c.1088T>G	c.(1087-1089)CTT>CGT	p.L363R	SERPINA3_uc001ydo.3_Missense_Mutation_p.L388R|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.L363R|SERPINA3_uc001yds.2_Missense_Mutation_p.L363R|SERPINA3_uc010avg.2_Missense_Mutation_p.L363R	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	363				AVL -> VVS (in Ref. 1; AAA51543).	acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AAGGCTGTGCTTGATGTATTT	0.522000												
PPP1R13B	23368	broad.mit.edu	37	14	104219502	104219502	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:104219502G>T	uc001yof.1	-	7	946	c.663C>A	c.(661-663)TTC>TTA	p.F221L	PPP1R13B_uc001yog.1_Missense_Mutation_p.F88L	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	221	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTTTTCCTGGAACATGGCAC	0.348000												
ATP10A	57194	broad.mit.edu	37	15	25928482	25928482	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:25928482T>A	uc010ayu.2	-	17	3549	c.3443A>T	c.(3442-3444)AAT>ATT	p.N1148I		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1148	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCAGCACATTGGCTGGCAC	0.562000												
TRPM1	4308	broad.mit.edu	37	15	31295126	31295126	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:31295126G>A	uc001zfm.2	-	27	3839	c.3711C>T	c.(3709-3711)ATC>ATT	p.I1237I	TRPM1_uc010azy.2_Silent_p.I1144I|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1237	Potential.|Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGACCTGTCGATTCCCGCAA	0.478000												
SPTBN5	51332	broad.mit.edu	37	15	42154357	42154357	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:42154357G>A	uc001zos.2	-	44	7747	c.7414C>T	c.(7414-7416)CGT>TGT	p.R2472C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2507	Spectrin 22.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTAACATACGCCGGGCTTCC	0.627000												
CDAN1	146059	broad.mit.edu	37	15	43019870	43019870	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:43019870G>A	uc001zql.2	-	23	3162	c.3045C>T	c.(3043-3045)CGC>CGT	p.R1015R	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.R341R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	1015						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCTCACAGGCGCGGGAGCAGC	0.647000												
MAP1A	4130	broad.mit.edu	37	15	43815290	43815290	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:43815290G>A	uc001zrt.2	+	4	2086	c.1619G>A	c.(1618-1620)CGT>CAT	p.R540H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	540	9 X 3 AA repeats of K-K-[DE].|9.					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGATGAAGCGTGAGGAGAGG	0.557000												
COPS2	9318	broad.mit.edu	37	15	49426269	49426269	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:49426269A>C	uc001zxf.2	-	8	831	c.752T>G	c.(751-753)TTT>TGT	p.F251C	COPS2_uc001zxh.2_Missense_Mutation_p.F258C|COPS2_uc010ufa.1_Missense_Mutation_p.F187C	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	251	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGCCTTTTCAAATTCACCTTC	0.358000												
PARP6	56965	broad.mit.edu	37	15	72556894	72556894	+	Splice_Site	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:72556894A>G	uc002auc.2	-	7	854	c.395_splice	c.e7+1	p.K132_splice	PARP6_uc002aua.2_Splice_Site|PARP6_uc002aub.2_Splice_Site|PARP6_uc002aud.3_Splice_Site|PARP6_uc002auf.1_Splice_Site_p.K132_splice	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity				0						CAAAGTTCTTACTTTTTCAAC	0.448000												
ACAN	176	broad.mit.edu	37	15	89401172	89401172	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:89401172A>C	uc010upo.1	+	12	5730	c.5356A>C	c.(5356-5358)AGT>CGT	p.S1786R	ACAN_uc010upp.1_Missense_Mutation_p.S1786R|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1786					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACTGATCTGAGTGGAGAAAC	0.527000												
ATF7IP2	80063	broad.mit.edu	37	16	10551372	10551372	+	Missense_Mutation	SNP	G	G	T	rs144631035	byFrequency	TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:10551372G>T	uc002czu.2	+	7	1565	c.1338G>T	c.(1336-1338)AAG>AAT	p.K446N	ATF7IP2_uc002czv.2_Missense_Mutation_p.K446N|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.K446N|ATF7IP2_uc010uyq.1_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						ATCAAAATAAGTCTGTTTCTG	0.284000												
KIAA0430	9665	broad.mit.edu	37	16	15705584	15705584	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:15705584C>T	uc002ddr.2	-	18	3675	c.3482G>A	c.(3481-3483)GGA>GAA	p.G1161E	KIAA0430_uc002ddq.2_Missense_Mutation_p.G995E|KIAA0430_uc010uzv.1_Missense_Mutation_p.G1157E|KIAA0430_uc010uzw.1_Missense_Mutation_p.G1160E	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1160						peroxisome	nucleotide binding|RNA binding				0						GGAGCCCATTCCAAGAATCTG	0.488000												
TPPP3	51673	broad.mit.edu	37	16	67424889	67424889	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:67424889G>A	uc002esz.2	-	1	961	c.126C>T	c.(124-126)TGC>TGT	p.C42C	TPPP3_uc002eta.2_Silent_p.C42C|TPPP3_uc002etb.2_Silent_p.C42C	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	42					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGCCACCTTGCAGTCCTTGC	0.572000												
WWOX	51741	broad.mit.edu	37	16	78466499	78466499	+	Silent	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:78466499C>G	uc002ffk.2	+	8	1031	c.906C>G	c.(904-906)CTC>CTG	p.L302L	WWOX_uc010vnk.1_Silent_p.L189L|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	302	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCAACATCCTCTTCTCCAACG	0.532000												
CORO6	84940	broad.mit.edu	37	17	27944531	27944531	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:27944531C>A	uc002hel.2	-	5	742	c.740G>T	c.(739-741)GGC>GTC	p.G247V	CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	247	WD 4.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GTCCCACAGGCCCAGCTCTCG	0.697000												
ERBB2	2064	broad.mit.edu	37	17	37882863	37882863	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:37882863C>T	uc002hso.2	+	24	3159	c.2921C>T	c.(2920-2922)TCT>TTT	p.S974F	ERBB2_uc002hsm.2_Missense_Mutation_p.S944F|ERBB2_uc010cwa.2_Missense_Mutation_p.S959F|ERBB2_uc002hsp.2_Missense_Mutation_p.S777F|ERBB2_uc010cwb.2_Missense_Mutation_p.S974F|ERBB2_uc010wek.1_Missense_Mutation_p.S698F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	974	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GAGTTGGTGTCTGAATTCTCC	0.607000		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
KRT28	162605	broad.mit.edu	37	17	38950093	38950093	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:38950093T>C	uc002hvh.1	-	6	1250	c.1184A>G	c.(1183-1185)GAT>GGT	p.D395G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	395	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TCCATCTCCATCTATCAGGCG	0.458000												
FHOD3	80206	broad.mit.edu	37	18	34349283	34349283	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr18:34349283T>A	uc002kzt.1	+	23	4177	c.4080T>A	c.(4078-4080)GAT>GAA	p.D1360E	FHOD3_uc002kzs.1_Missense_Mutation_p.D1377E|FHOD3_uc010dmz.1_Missense_Mutation_p.D1092E|FHOD3_uc010dnb.1_Missense_Mutation_p.M298K	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1360	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCACAGATGATGCAGCTGATG	0.522000												
PIK3C3	5289	broad.mit.edu	37	18	39607420	39607420	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr18:39607420G>A	uc002lap.2	+	14	1556	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	PIK3C3_uc010xcl.1_Missense_Mutation_p.E437K|PIK3C3_uc002laq.2_5'UTR	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	500					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						TGTGATAGTGGAATGTGAAGA	0.353000										TSP Lung(28;0.18)		
DCC	1630	broad.mit.edu	37	18	50832036	50832036	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr18:50832036G>A	uc002lfe.1	+	13	2587	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	DCC_uc010xdr.1_Missense_Mutation_p.R515H|DCC_uc010dpf.1_Missense_Mutation_p.R322H	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	667	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGACGACCCGCAGGGGTGAG	0.423000												
MUC16	94025	broad.mit.edu	37	19	9089223	9089223	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:9089223T>G	uc002mkp.2	-	1	2796	c.2592A>C	c.(2590-2592)GAA>GAC	p.E864D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	864	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTCTGTTTCTTCTCCACTAG	0.478000												
ZNF559	84527	broad.mit.edu	37	19	9449168	9449168	+	Splice_Site	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:9449168A>G	uc002mlg.2	+	4	592	c.-55_splice	c.e4-2		ZNF559_uc002mlf.2_Splice_Site|ZNF559_uc010dwl.1_Splice_Site|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Splice_Site|ZNF559_uc002mle.3_Splice_Site_p.D46_splice|ZNF559_uc010dwk.1_Splice_Site|ZNF559_uc002mld.2_Splice_Site_p.D46_splice|ZNF559_uc010dwo.1_Splice_Site_p.D10_splice|ZNF559_uc002mlh.1_Splice_Site|ZNF177_uc002mli.2_Splice_Site|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCTTCTTAAGATCATCTTT	0.408000												
ZNF791	163049	broad.mit.edu	37	19	12738763	12738763	+	Silent	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:12738763C>G	uc002mua.2	+	4	582	c.420C>G	c.(418-420)GCC>GCG	p.A140A	ZNF791_uc010xml.1_Silent_p.A108A|ZNF791_uc010dyu.1_Silent_p.A31A|ZNF791_uc010xmm.1_Silent_p.A31A	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	140	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTGAGAAAGCCTTTAGTTATC	0.393000												
ZNF536	9745	broad.mit.edu	37	19	30934928	30934928	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:30934928G>A	uc002nsu.1	+	2	597	c.459G>A	c.(457-459)ACG>ACA	p.T153T	ZNF536_uc010edd.1_Silent_p.T153T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCACGCACACGGGCGAGAAGC	0.642000												
RYR1	6261	broad.mit.edu	37	19	39066574	39066574	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:39066574C>T	uc002oit.2	+	97	14275	c.14145C>T	c.(14143-14145)AAC>AAT	p.N4715N	RYR1_uc002oiu.2_Silent_p.N4710N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4715					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCTAGCAACTACTGGGACA	0.562000												
TRAPPC6A	79090	broad.mit.edu	37	19	45668181	45668181	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:45668181T>A	uc002paw.2	-	3	219	c.200A>T	c.(199-201)AAG>ATG	p.K67M	TRAPPC6A_uc002pav.2_Missense_Mutation_p.K81M			O75865	TPC6A_HUMAN	SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;	67					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GCACAAGAACTTGAGGACATC	0.657000												
NLRP2	55655	broad.mit.edu	37	19	55494614	55494614	+	Silent	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:55494614C>A	uc002qij.2	+	6	1634	c.1548C>A	c.(1546-1548)ACC>ACA	p.T516T	NLRP2_uc010yfp.1_Silent_p.T493T|NLRP2_uc010esn.2_Silent_p.T492T|NLRP2_uc010eso.2_Silent_p.T513T|NLRP2_uc010esp.2_Silent_p.T494T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	516	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTTCTACACCCTGGAGAAGG	0.572000												
TPO	7173	broad.mit.edu	37	2	1499798	1499798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:1499798C>T	uc002qww.2	+	12	2135	c.2044C>T	c.(2044-2046)CAG>TAG	p.Q682*	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Nonsense_Mutation_p.Q625*|TPO_uc002qwr.2_Nonsense_Mutation_p.Q682*|TPO_uc002qwx.2_Nonsense_Mutation_p.Q625*|TPO_uc010yio.1_Nonsense_Mutation_p.Q509*|TPO_uc010yip.1_Nonsense_Mutation_p.Q682*|TPO_uc002qwy.1_Nonsense_Mutation_p.Q22*|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	682	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACGGATGCACAGAGGCGTGA	0.577000												
KCNS3	3790	broad.mit.edu	37	2	18112836	18112836	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:18112836C>T	uc002rcv.2	+	3	1012	c.561C>T	c.(559-561)ATC>ATT	p.I187I	KCNS3_uc002rcw.2_Silent_p.I187I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	187	Helical; Name=Segment S1; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTAAGCTTATCGCTATCTCCT	0.522000												
LTBP1	4052	broad.mit.edu	37	2	33585711	33585711	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:33585711T>C	uc002ros.2	+	27	4051	c.4051T>C	c.(4051-4053)TAC>CAC	p.Y1351H	LTBP1_uc002rot.2_Missense_Mutation_p.Y1025H|LTBP1_uc002rou.2_Missense_Mutation_p.Y1024H|LTBP1_uc002rov.2_Missense_Mutation_p.Y971H|LTBP1_uc010ymz.1_Missense_Mutation_p.Y982H|LTBP1_uc010yna.1_Missense_Mutation_p.Y929H|LTBP1_uc010ynb.1_Missense_Mutation_p.Y248H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1350	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAAGAATGCTACTATAATCT	0.408000												
HK2	3099	broad.mit.edu	37	2	75061723	75061723	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:75061723C>T	uc002snd.2	+	1	1942	c.16C>T	c.(16-18)CTG>TTG	p.L6L		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	6	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TGCCTCGCATCTGCTTGCCTA	0.662000												
RNF103	7844	broad.mit.edu	37	2	86839315	86839315	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:86839315C>A	uc002srn.2	-	3	1418	c.449G>T	c.(448-450)CGT>CTT	p.R150L	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.R11L|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	150					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						TGTGCCTGTACGTATTCCAAA	0.388000												
GYPC	2995	broad.mit.edu	37	2	127453545	127453545	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:127453545G>A	uc002tnq.2	+	4	370	c.214G>A	c.(214-216)GTC>ATC	p.V72I	GYPC_uc002tnr.2_Missense_Mutation_p.V53I|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	72	Helical; Signal-anchor for type III membrane protein.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TGTGGCCATCGTCCTAGTCTC	0.607000												
MGAT5	4249	broad.mit.edu	37	2	135199405	135199405	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:135199405G>T	uc002ttv.1	+	15	2091	c.1946G>T	c.(1945-1947)TGC>TTC	p.C649F		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	649	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GGGCAGTCCTGCAAGCAGGTG	0.582000												
YSK4	80122	broad.mit.edu	37	2	135745059	135745059	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:135745059G>A	uc002tue.1	-	7	1414	c.1383C>T	c.(1381-1383)AGC>AGT	p.S461S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S348S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.S189S|YSK4_uc002tui.3_Silent_p.S478S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	461							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGTCTCCATGCTGCTACAAC	0.408000												
LRP1B	53353	broad.mit.edu	37	2	141122309	141122309	+	Silent	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:141122309A>G	uc002tvj.1	-	72	12024	c.11052T>C	c.(11050-11052)TCT>TCC	p.S3684S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3684	Extracellular (Potential).|LDL-receptor class A 30.				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)		GTTTGCAGAGAGAATTATTGC	0.413000										TSP Lung(27;0.18)		
NEB	4703	broad.mit.edu	37	2	152499752	152499752	+	Missense_Mutation	SNP	C	C	T	rs35555631	by1000genomes	TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:152499752C>T	uc010fnx.2	-	58	8263	c.8072G>A	c.(8071-8073)CGT>CAT	p.R2691H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2691	Nebulin 72.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGTGCTGACGGTAAACATG	0.418000												
PLA2R1	22925	broad.mit.edu	37	2	160901447	160901447	+	Missense_Mutation	SNP	C	C	T	rs139879340		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:160901447C>T	uc002ube.1	-	2	538	c.331G>A	c.(331-333)GTT>ATT	p.V111I	PLA2R1_uc010zcp.1_Missense_Mutation_p.V111I|PLA2R1_uc002ubf.2_Missense_Mutation_p.V111I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	111	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						CGTAAGGAAACGAGGGTGGAG	0.537000												
KCNH7	90134	broad.mit.edu	37	2	163253359	163253359	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:163253359T>G	uc002uch.1	-	11	2716	c.2504A>C	c.(2503-2505)AAG>ACG	p.K835T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	835	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TCGCTGAATCTTATGCAAGTC	0.373000												
XIRP2	129446	broad.mit.edu	37	2	167992437	167992437	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:167992437A>C	uc002udx.2	+	2	445	c.427A>C	c.(427-429)AGT>CGT	p.S143R	XIRP2_uc010fpn.2_Missense_Mutation_p.S143R|XIRP2_uc010fpo.2_Missense_Mutation_p.S143R|XIRP2_uc010fpp.2_Missense_Mutation_p.S143R|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTGAGCGAAGTTTGTGCTC	0.423000												
B3GALT1	8708	broad.mit.edu	37	2	168726351	168726351	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:168726351G>T	uc002udz.1	+	2	1153	c.802G>T	c.(802-804)GTG>TTG	p.V268L		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	268	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						AGACGTATATGTGGGACTGTG	0.468000												
CHN1	1123	broad.mit.edu	37	2	175779816	175779816	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:175779816C>T	uc002uji.2	-	5	760	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	CHN1_uc010zeq.1_Missense_Mutation_p.R77Q|CHN1_uc002ujj.2_5'UTR	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	77	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCCTGGCTGCCGCTGGCTCTC	0.463000			T	TAF15	extraskeletal myxoid chondrosarcoma							
TTN	7273	broad.mit.edu	37	2	179478896	179478896	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:179478896A>G	uc010zfg.1	-	211	41748	c.41524T>C	c.(41524-41526)TTC>CTC	p.F13842L	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.F7537L|TTN_uc010zfi.1_Missense_Mutation_p.F7470L|TTN_uc010zfj.1_Missense_Mutation_p.F7345L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14769							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)			GTGGCCTTGAAGTTTGTATCC	0.443000												
ERBB4	2066	broad.mit.edu	37	2	212251753	212251753	+	Silent	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:212251753A>G	uc002veg.1	-	27	3404	c.3306T>C	c.(3304-3306)TTT>TTC	p.F1102F	ERBB4_uc002veh.1_Silent_p.F1086F|ERBB4_uc010zji.1_Silent_p.F1092F|ERBB4_uc010zjj.1_Silent_p.F1076F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1102	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGGAGTCATCAAAAATCTCAG	0.547000										TSP Lung(8;0.080)		
VWC2L	402117	broad.mit.edu	37	2	215301358	215301358	+	Silent	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:215301358T>C	uc002vet.2	+	3	526	c.396T>C	c.(394-396)TCT>TCC	p.S132S	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	132	VWFC 2.					extracellular region					0						CCTAGCCCTCTCCATGTGAAT	0.433000												
SP100	6672	broad.mit.edu	37	2	231313845	231313845	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:231313845C>T	uc002vqt.2	+	6	707	c.566C>T	c.(565-567)TCG>TTG	p.S189L	SP100_uc002vqs.2_Missense_Mutation_p.S189L|SP100_uc002vqu.1_Missense_Mutation_p.S189L|SP100_uc010zmb.1_Missense_Mutation_p.S189L|SP100_uc002vqq.1_Missense_Mutation_p.S189L|SP100_uc002vqr.1_Missense_Mutation_p.S164L|SP100_uc010zmc.1_Missense_Mutation_p.S164L|SP100_uc002vqv.1_Missense_Mutation_p.S153L	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	189					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGCCACCTTCGGGTTCCCCA	0.458000												
SLC4A11	83959	broad.mit.edu	37	20	3214855	3214855	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:3214855C>A	uc002wig.2	-	4	493	c.445G>T	c.(445-447)GAT>TAT	p.D149Y	SLC4A11_uc010zqe.1_Missense_Mutation_p.D176Y|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.D133Y	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	149	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGCACGTTATCCAGGGAGGTG	0.592000												
FITM2	128486	broad.mit.edu	37	20	42935377	42935377	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:42935377C>A	uc002xlr.1	-	2	778	c.677G>T	c.(676-678)GGT>GTT	p.G226V		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	226	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						GCTCAGCAAACCAAACAAGGT	0.483000												
KCNK15	60598	broad.mit.edu	37	20	43379120	43379120	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:43379120G>A	uc002xmr.2	+	2	698	c.634G>A	c.(634-636)GAG>AAG	p.E212K		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	212						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				GCAGAGCGGCGAGGCGCTGCA	0.622000												
SLC12A5	57468	broad.mit.edu	37	20	44670087	44670087	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:44670087G>A	uc010zxl.1	+	8	1119	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.R325H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	348	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCTCCTCTCGCTTCCTCAAC	0.567000												
SALL4	57167	broad.mit.edu	37	20	50408026	50408026	+	Silent	SNP	G	G	A	rs137963401		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:50408026G>A	uc002xwh.3	-	2	1097	c.996C>T	c.(994-996)AGC>AGT	p.S332S	SALL4_uc010gii.2_Silent_p.S332S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	332					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAAGCAAAGCGCTCGGGAGGC	0.642000												
GMEB2	26205	broad.mit.edu	37	20	62221495	62221495	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:62221495G>A	uc002yfp.1	-	9	2019	c.1540C>T	c.(1540-1542)CAC>TAC	p.H514Y	GMEB2_uc002yfo.1_Missense_Mutation_p.H436Y|GMEB2_uc002yfq.1_Missense_Mutation_p.H514Y	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	514					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GTGGCCGTGTGCTCCTCAGGC	0.701000												
ADAMTS5	11096	broad.mit.edu	37	21	28306878	28306878	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr21:28306878C>G	uc002ymg.2	-	4	2325	c.1596G>C	c.(1594-1596)AAG>AAC	p.K532N		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	532	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CAGGCAGCTTCTTGGTCAGAC	0.542000												
MYH9	4627	broad.mit.edu	37	22	36698672	36698672	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:36698672C>T	uc003apg.2	-	20	2672	c.2441G>A	c.(2440-2442)CGG>CAG	p.R814Q	MYH9_uc003aph.1_Missense_Mutation_p.R678Q	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	814					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCGCAGTTCCGCTGGAGGAC	0.532000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
SMCR7L	54471	broad.mit.edu	37	22	39909637	39909637	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:39909637G>C	uc003axx.2	+	6	1199	c.701G>C	c.(700-702)CGT>CCT	p.R234P	SMCR7L_uc003axw.2_Missense_Mutation_p.R234P|SMCR7L_uc010gxz.1_Missense_Mutation_p.R56P|SMCR7L_uc003axy.2_Missense_Mutation_p.R56P	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	234						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TTCCTGGTGCGTCGTGAGAAT	0.522000												
CACNA1I	8911	broad.mit.edu	37	22	40055853	40055853	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:40055853C>T	uc003ayc.2	+	14	2600	c.2600C>T	c.(2599-2601)GCG>GTG	p.A867V	CACNA1I_uc003ayd.2_Missense_Mutation_p.A832V|CACNA1I_uc003aye.2_Missense_Mutation_p.A782V|CACNA1I_uc003ayf.2_Missense_Mutation_p.A747V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	867	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCTTCCAGGCGGAGGTGACT	0.607000												
EFCAB6	64800	broad.mit.edu	37	22	44168845	44168845	+	Missense_Mutation	SNP	C	C	T	rs139182657	byFrequency	TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:44168845C>T	uc003bdy.1	-	4	493	c.278G>A	c.(277-279)AGT>AAT	p.S93N	EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.S90N|EFCAB6_uc003beb.3_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	93	EF-hand 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTCAGTTCACTTTTTGACAC	0.423000												
ZBED4	9889	broad.mit.edu	37	22	50278064	50278064	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:50278064G>A	uc003bix.2	+	2	1224	c.754G>A	c.(754-756)GTG>ATG	p.V252M		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	252						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGCCCTGGTGGGGTCGTC	0.537000												
NCAPH2	29781	broad.mit.edu	37	22	50956614	50956614	+	Missense_Mutation	SNP	G	G	A	rs141520277		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:50956614G>A	uc003blr.3	+	7	675	c.553G>A	c.(553-555)GTT>ATT	p.V185I	NCAPH2_uc003blq.3_Missense_Mutation_p.V185I|NCAPH2_uc003blv.2_Missense_Mutation_p.V185I|NCAPH2_uc010hbb.2_Missense_Mutation_p.V36I|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.V185I|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	185					chromosome condensation	chromosome|nucleus				ovary(1)|skin(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GAACACGTGCGTTCCCCACCC	0.637000												
NR1D2	9975	broad.mit.edu	37	3	23996233	23996233	+	Silent	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:23996233T>C	uc003ccs.2	+	2	541	c.222T>C	c.(220-222)TGT>TGC	p.C74C	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	74					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						GAATAGATTGTTCTATGAAAA	0.373000												
SLC25A38	54977	broad.mit.edu	37	3	39433036	39433036	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:39433036C>T	uc003cjo.2	+	4	782	c.381C>T	c.(379-381)GTC>GTT	p.V127V		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	127	Solcar 2.|Helical; Name=3; (Potential).				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGTCAGTCATGCTGGGGG	0.532000												
IP6K1	9807	broad.mit.edu	37	3	49764884	49764884	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:49764884T>C	uc003cxm.1	-	6	1312	c.997A>G	c.(997-999)AGT>GGT	p.S333G	IP6K1_uc003cxn.1_Missense_Mutation_p.S168G|IP6K1_uc011bcv.1_Missense_Mutation_p.S168G|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	333					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						AGCAGGGAACTGGAGTAGAAG	0.607000												
GNAT1	2779	broad.mit.edu	37	3	50231619	50231619	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:50231619G>A	uc003cym.2	+	6	789	c.673G>A	c.(673-675)GCC>ACC	p.A225T	GNAT1_uc003cyl.2_Missense_Mutation_p.A225T	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	225					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGCGCTGAGCGCCTACGACAT	0.657000												
PARP3	10039	broad.mit.edu	37	3	51980232	51980232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:51980232G>A	uc003dby.2	+	9	1520	c.1149G>A	c.(1147-1149)TGG>TGA	p.W383*	PARP3_uc003dbz.2_Nonsense_Mutation_p.W390*	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	383	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTGCTGTGGCATGGCACCA	0.577000												
CACNA1D	776	broad.mit.edu	37	3	53777132	53777132	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:53777132C>T	uc003dgv.3	+	22	3069	c.2906C>T	c.(2905-2907)TCA>TTA	p.S969L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S989L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S969L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S636L|CACNA1D_uc003dgx.1_Missense_Mutation_p.S117L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	969	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCTCTGGTGTCATTTGGGATT	0.443000												
ROBO2	6092	broad.mit.edu	37	3	77600056	77600056	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:77600056C>T	uc003dpy.3	+	8	1790	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	ROBO2_uc003dpz.2_Missense_Mutation_p.R387C|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R387C	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	383	Ig-like C2-type 4.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACATTCAACGTTCCGACGC	0.483000												
GBE1	2632	broad.mit.edu	37	3	81640313	81640313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:81640313G>A	uc003dqg.2	-	10	1394	c.1111C>T	c.(1111-1113)CAA>TAA	p.Q371*	GBE1_uc011bgm.1_Nonsense_Mutation_p.Q330*	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	371					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAGAAACCTTGACCTTAGAAA	0.343000									Glycogen_Storage_Disease_type_IV			
STXBP5L	9515	broad.mit.edu	37	3	121126281	121126281	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:121126281A>C	uc003eec.3	+	24	2991	c.2851A>C	c.(2851-2853)ATA>CTA	p.I951L	STXBP5L_uc011bji.1_Missense_Mutation_p.I927L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	951	WD 12.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTATACAATAATCTGCTC	0.373000												
EVC2	132884	broad.mit.edu	37	4	5699368	5699368	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:5699368G>A	uc003gij.2	-	2	289	c.235C>T	c.(235-237)CCC>TCC	p.P79S	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	79						integral to membrane				large_intestine(3)|ovary(2)	5						ATCATACAGGGCAAGTCCTAA	0.378000												
UNC5C	8633	broad.mit.edu	37	4	96123915	96123915	+	Silent	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:96123915G>T	uc003htp.1	-	12	2257	c.2103C>A	c.(2101-2103)GTC>GTA	p.V701V	UNC5C_uc010ilc.1_Silent_p.V720V	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	701	Cytoplasmic (Potential).|Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCAGACAGTAGACTCGGATGC	0.602000												
AGXT2L1	64850	broad.mit.edu	37	4	109674150	109674150	+	Silent	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:109674150A>C	uc003hzc.2	-	6	700	c.519T>G	c.(517-519)ACT>ACG	p.T173T	AGXT2L1_uc010imc.2_Silent_p.T167T|AGXT2L1_uc011cfm.1_Silent_p.T133T|AGXT2L1_uc011cfn.1_Silent_p.T100T|AGXT2L1_uc011cfo.1_Silent_p.T115T	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	173					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTCCTCTGTAAGTATCTGGAG	0.393000												
FGF2	2247	broad.mit.edu	37	4	123813510	123813510	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:123813510C>A	uc003iev.1	+	3	894	c.826C>A	c.(826-828)CAG>AAG	p.Q276K		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	276	Heparin-binding (By similarity).				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|lung(1)|central_nervous_system(1)	3					Pentosan Polysulfate(DB00686)	AGGACCTGGGCAGAAAGCTAT	0.368000												
FAT4	79633	broad.mit.edu	37	4	126370110	126370110	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:126370110C>T	uc003ifj.3	+	9	7939	c.7939C>T	c.(7939-7941)CCT>TCT	p.P2647S	FAT4_uc011cgp.1_Missense_Mutation_p.P945S|FAT4_uc003ifi.1_Missense_Mutation_p.P125S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2647	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						cggtggtttccctcctttctC	0.144000												
PCDH10	57575	broad.mit.edu	37	4	134072011	134072011	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:134072011G>A	uc003iha.2	+	1	1542	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R239Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCACCATCCGAGTGCTGGAC	0.463000												
RNF175	285533	broad.mit.edu	37	4	154644505	154644505	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:154644505G>T	uc003int.2	-	5	880	c.507C>A	c.(505-507)TTC>TTA	p.F169L	RNF175_uc003inu.1_Missense_Mutation_p.F41L	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	169	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ATACTTACTTGAAAAACAGAT	0.388000												
SFRP2	6423	broad.mit.edu	37	4	154702901	154702901	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:154702901T>G	uc003inv.1	-	3	831	c.590A>C	c.(589-591)AAA>ACA	p.K197T		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	197	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				CACTTTTATTTTCAGTGCTAT	0.463000												
GUCY1A3	2982	broad.mit.edu	37	4	156651353	156651353	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:156651353T>G	uc003iov.2	+	11	2579	c.2043T>G	c.(2041-2043)AAT>AAG	p.N681K	GUCY1A3_uc003iow.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N680K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N681K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N681K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	681				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCAATGCCAATTTTTTAGGCA	0.398000												
FASTKD3	79072	broad.mit.edu	37	5	7866882	7866882	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:7866882G>T	uc003jeb.2	-	2	1452	c.1315C>A	c.(1315-1317)CAT>AAT	p.H439N	FASTKD3_uc011cmp.1_Missense_Mutation_p.H141N|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	439					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TAATTGAAATGAGTGAATAGC	0.358000												
SEMA5A	9037	broad.mit.edu	37	5	9066715	9066715	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:9066715T>G	uc003jek.2	-	17	2829	c.2117A>C	c.(2116-2118)AAG>ACG	p.K706T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	706	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGGCGTGGTCTTCTTCAGCTC	0.552000												
CTNND2	1501	broad.mit.edu	37	5	11364954	11364954	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:11364954T>C	uc003jfa.1	-	8	1371	c.1226A>G	c.(1225-1227)GAG>GGG	p.E409G	CTNND2_uc010itt.2_Missense_Mutation_p.E318G|CTNND2_uc011cmy.1_Missense_Mutation_p.E72G|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	409	ARM 1.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GGCCCGCAACTCTGGGCCCAG	0.567000												
MYO10	4651	broad.mit.edu	37	5	16676142	16676142	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:16676142T>C	uc003jft.3	-	34	5132	c.4664A>G	c.(4663-4665)AAC>AGC	p.N1555S	MYO10_uc011cnb.1_Missense_Mutation_p.N184S|MYO10_uc011cnc.1_Missense_Mutation_p.N434S|MYO10_uc011cnd.1_Missense_Mutation_p.N912S|MYO10_uc011cne.1_Missense_Mutation_p.N912S|MYO10_uc010itx.2_Missense_Mutation_p.N1177S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1555	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GGACTTACAGTTGAGATTTAT	0.498000												
CDH18	1016	broad.mit.edu	37	5	19747287	19747287	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:19747287C>T	uc003jgc.2	-	3	664	c.287G>A	c.(286-288)GGT>GAT	p.G96D	CDH18_uc003jgd.2_Missense_Mutation_p.G96D|CDH18_uc011cnm.1_Missense_Mutation_p.G96D	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	96	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTCCCAGCACCCTCTCCAGT	0.408000												
CDH12	1010	broad.mit.edu	37	5	21783540	21783540	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:21783540G>A	uc010iuc.2	-	8	1778	c.1320C>T	c.(1318-1320)ACC>ACT	p.T440T	CDH12_uc011cno.1_Silent_p.T400T|CDH12_uc003jgk.2_Silent_p.T440T	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	440	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TAGTGGCGATGGTTCCTTCAT	0.378000										HNSCC(59;0.17)		
RXFP3	51289	broad.mit.edu	37	5	33937978	33937978	+	Missense_Mutation	SNP	C	C	T	rs143656786		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:33937978C>T	uc003jic.1	+	1	1490	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	378	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GTGTGCCTAGCGCACTCCAAC	0.617000												
NUP155	9631	broad.mit.edu	37	5	37364386	37364386	+	Silent	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:37364386T>C	uc003jku.1	-	2	376	c.258A>G	c.(256-258)AGA>AGG	p.R86R	NUP155_uc003jkt.1_Silent_p.R27R|NUP155_uc010iuz.1_Silent_p.R86R	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	86					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAGGAACTCTTCGGATGG	0.383000												
HEATR7B2	133558	broad.mit.edu	37	5	41061700	41061700	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:41061700T>G	uc003jmj.3	-	6	1077	c.587A>C	c.(586-588)AAG>ACG	p.K196T		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	196							binding			ovary(6)|central_nervous_system(2)	8						AGGGGCCCACTTCTCCATTAT	0.488000												
OXCT1	5019	broad.mit.edu	37	5	41803250	41803250	+	Missense_Mutation	SNP	C	C	G	rs121909301		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:41803250C>G	uc003jmn.2	-	10	1302	c.971G>C	c.(970-972)GGA>GCA	p.G324A		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353000												
MCTP1	79772	broad.mit.edu	37	5	94248669	94248669	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:94248669T>G	uc003kkx.2	-	9	1363	c.1363A>C	c.(1363-1365)AGT>CGT	p.S455R	MCTP1_uc003kkv.2_Missense_Mutation_p.S234R|MCTP1_uc003kkw.2_Missense_Mutation_p.S188R|MCTP1_uc003kkz.2_Missense_Mutation_p.S116R|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	455					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGCGTAAACTTTGGGTCTGA	0.403000												
PPIP5K2	23262	broad.mit.edu	37	5	102465386	102465386	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:102465386C>G	uc003kod.3	+	2	612	c.93C>G	c.(91-93)GAC>GAG	p.D31E	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.D31E|PPIP5K2_uc010jbo.1_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	31					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						CAGATGAAGACGATGAGGAGG	0.368000												
GRXCR2	643226	broad.mit.edu	37	5	145246082	145246082	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:145246082G>A	uc003lns.1	-	2	546	c.546C>T	c.(544-546)CCC>CCT	p.P182P		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	182											0						ACCGGTTTTGGGGTAATGTGC	0.527000												
DSP	1832	broad.mit.edu	37	6	7585299	7585299	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:7585299T>G	uc003mxp.1	+	24	8083	c.7804T>G	c.(7804-7806)TTA>GTA	p.L2602V	DSP_uc003mxq.1_Missense_Mutation_p.L2003V	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2602	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTCAGGAATTTAACCATAAG	0.468000												
C6orf114	85411	broad.mit.edu	37	6	13470336	13470336	+	Silent	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:13470336A>C	uc003nav.2	-	2	700	c.177T>G	c.(175-177)GGT>GGG	p.G59G	GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA	NM_033069	NP_149060			hypothetical protein LOC85411												0	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147)			CGTTTGAAAAACCGATAAATA	0.343000												
RBM24	221662	broad.mit.edu	37	6	17292294	17292294	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:17292294G>A	uc003nbz.3	+	4	659	c.655G>A	c.(655-657)GCT>ACT	p.A219T	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A161T|RBM24_uc003nca.2_Missense_Mutation_p.A174T|RBM24_uc011diy.1_Silent_p.P132P|RBM24_uc011diz.1_Silent_p.P117P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	219	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			agctgctgccgctgcagcATT	0.433000												
HCRTR2	3062	broad.mit.edu	37	6	55039587	55039587	+	Missense_Mutation	SNP	G	G	A	rs75924257		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:55039587G>A	uc003pcl.2	+	1	517	c.202G>A	c.(202-204)GCT>ACT	p.A68T	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	68	Helical; Name=1; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCGTCGTGGCTCTCATTGG	0.602000												
PRDM13	59336	broad.mit.edu	37	6	100062499	100062499	+	Missense_Mutation	SNP	G	G	A	rs113976133		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:100062499G>A	uc003pqg.1	+	4	2249	c.1988G>A	c.(1987-1989)GGC>GAC	p.G663D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCCAAAGCGGGCGACGGCCCG	0.677000												
RFPL4B	442247	broad.mit.edu	37	6	112671628	112671628	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:112671628C>G	uc003pvx.1	+	3	1030	c.718C>G	c.(718-720)CTT>GTT	p.L240V		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	240	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTCTTTGGAGCTTTTGTGTCC	0.438000												
NUP43	348995	broad.mit.edu	37	6	150048162	150048162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:150048162A>T	uc003qmz.2	-	8	1143	c.1086T>A	c.(1084-1086)TGT>TGA	p.C362*	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Nonsense_Mutation_p.C266*	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	362					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CACAAACAAGACAAGGACCTA	0.388000												
ULBP1	80329	broad.mit.edu	37	6	150290326	150290326	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:150290326A>G	uc003qnp.2	+	3	498	c.455A>G	c.(454-456)GAC>GGC	p.D152G		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	152	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CTCCTCTTTGACTCAAACAAC	0.498000												
SYNE1	23345	broad.mit.edu	37	6	152746668	152746668	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:152746668T>G	uc010kiw.2	-	39	5717	c.5115A>C	c.(5113-5115)GAA>GAC	p.E1705D	SYNE1_uc003qot.3_Missense_Mutation_p.E1712D|SYNE1_uc003qou.3_Missense_Mutation_p.E1705D|SYNE1_uc010kjb.1_Missense_Mutation_p.E1688D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1705	Spectrin 2.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATACAACTTCATTTTGCA	0.413000										HNSCC(10;0.0054)		
C6orf118	168090	broad.mit.edu	37	6	165715428	165715428	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:165715428A>G	uc003qum.3	-	2	419	c.383T>C	c.(382-384)CTG>CCG	p.L128P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	128											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTACCTGAACAGCGGGGTGTC	0.617000												
ZNF713	349075	broad.mit.edu	37	7	56007364	56007364	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:56007364C>G	uc003trc.1	+	4	996	c.958C>G	c.(958-960)CTG>GTG	p.L320V	ZNF713_uc003tra.1_Missense_Mutation_p.L333V|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	320	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACTCAACATCTGAGGATTCA	0.403000												
ZNF273	10793	broad.mit.edu	37	7	64378004	64378004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:64378004G>T	uc003tto.2	+	2	224	c.148G>T	c.(148-150)GAG>TAG	p.E50*	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTCTCTGGAGGAGTGGCAATG	0.408000												
SRRM3	222183	broad.mit.edu	37	7	75889227	75889227	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:75889227G>A	uc010ldi.2	+	4	548	c.339G>A	c.(337-339)GTG>GTA	p.V113V		NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						CCGGCAGTGTGGCGGAGACCC	0.687000												
PCLO	27445	broad.mit.edu	37	7	82585678	82585678	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:82585678T>G	uc003uhx.2	-	5	4880	c.4591A>C	c.(4591-4593)ACT>CCT	p.T1531P	PCLO_uc003uhv.2_Missense_Mutation_p.T1531P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1462					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCAACACTAGTTCTTCGTTTT	0.398000												
PCLO	27445	broad.mit.edu	37	7	82595388	82595388	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:82595388T>G	uc003uhx.2	-	4	4005	c.3716A>C	c.(3715-3717)AAA>ACA	p.K1239T	PCLO_uc003uhv.2_Missense_Mutation_p.K1239T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1178					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGTTGGCTTTTTTTCTTCTAG	0.383000												
SEMA3A	10371	broad.mit.edu	37	7	83591046	83591046	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:83591046C>T	uc003uhz.2	-	17	2272	c.1957G>A	c.(1957-1959)GAA>AAA	p.E653K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	653	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						AACCCATGTTCCACCGCATGG	0.438000												
C7orf58	79974	broad.mit.edu	37	7	120907303	120907303	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:120907303A>C	uc003vjq.3	+	21	3115	c.2668A>C	c.(2668-2670)ACT>CCT	p.T890P		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	890						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GATCATCAAAACTTTGGGAAT	0.194000												
ASB15	142685	broad.mit.edu	37	7	123264689	123264689	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:123264689C>A	uc003vku.1	+	8	810	c.518C>A	c.(517-519)CCC>CAC	p.P173H	ASB15_uc003vkv.1_Missense_Mutation_p.P173H|ASB15_uc003vkw.1_Missense_Mutation_p.P173H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	173	ANK 2.				intracellular signal transduction					skin(2)|lung(1)	3						CTAGACCAGCCCTGTGTCAAG	0.453000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATG9B	285973	broad.mit.edu	37	7	150718411	150718411	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:150718411C>T	uc011kvc.1	-	5	903	c.827G>A	c.(826-828)CGC>CAC	p.R276H	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	276	Lumenal (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCTGGAGCGGATCCTGTA	0.612000												
DLC1	10395	broad.mit.edu	37	8	13356670	13356670	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:13356670T>G	uc003wwm.2	-	2	1355	c.911A>C	c.(910-912)AAC>ACC	p.N304T	DLC1_uc003wwn.2_Missense_Mutation_p.N304T|DLC1_uc011kxy.1_Missense_Mutation_p.N304T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	304					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGACTTTTGTTTTGATGTTG	0.468000												
WHSC1L1	54904	broad.mit.edu	37	8	38139039	38139039	+	Silent	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:38139039G>T	uc003xli.2	-	20	4082	c.3564C>A	c.(3562-3564)ATC>ATA	p.I1188I	WHSC1L1_uc011lbm.1_Silent_p.I1188I|WHSC1L1_uc010lwe.2_Silent_p.I1139I|WHSC1L1_uc003xlh.2_5'Flank	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1188	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGCTCGCTTGATTCGCAATC	0.318000			T	NUP98	AML							
RP1	6101	broad.mit.edu	37	8	55540434	55540434	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:55540434A>T	uc003xsd.1	+	4	4140	c.3992A>T	c.(3991-3993)GAG>GTG	p.E1331V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1331					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAATTGATGAGACCTACGTT	0.393000												
TRPA1	8989	broad.mit.edu	37	8	72971670	72971670	+	Silent	SNP	A	A	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:72971670A>T	uc003xza.2	-	8	1123	c.948T>A	c.(946-948)GCT>GCA	p.A316A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	316	ANK 8.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CAAACAATGAAGCTCTGAAAA	0.234000												
NECAB1	64168	broad.mit.edu	37	8	91963378	91963378	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:91963378A>C	uc011lgg.1	+	12	1170	c.976A>C	c.(976-978)AGT>CGT	p.S326R	NECAB1_uc003yer.2_Missense_Mutation_p.S75R	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	326					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTCCAAAGAAGTAATGTGGA	0.353000												
RIMS2	9699	broad.mit.edu	37	8	105263313	105263313	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:105263313A>C	uc003yls.2	+	27	4048	c.3807A>C	c.(3805-3807)AAA>AAC	p.K1269N	RIMS2_uc003ylp.2_Missense_Mutation_p.K1251N|RIMS2_uc003ylw.2_Missense_Mutation_p.K1258N|RIMS2_uc003ylq.2_Missense_Mutation_p.K1065N|RIMS2_uc003ylr.2_Missense_Mutation_p.K1090N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1313	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAAAACAAAAGTGGCAAGAA	0.378000										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113256673	113256673	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:113256673C>A	uc003ynu.2	-	65	10511	c.10352G>T	c.(10351-10353)AGA>ATA	p.R3451I	CSMD3_uc003yns.2_Missense_Mutation_p.R2653I|CSMD3_uc003ynt.2_Missense_Mutation_p.R3411I|CSMD3_uc011lhx.1_Missense_Mutation_p.R3282I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3451	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCTACACACTCTATGTTCTGT	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113256738	113256738	+	Silent	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:113256738A>G	uc003ynu.2	-	65	10446	c.10287T>C	c.(10285-10287)TCT>TCC	p.S3429S	CSMD3_uc003yns.2_Silent_p.S2631S|CSMD3_uc003ynt.2_Silent_p.S3389S|CSMD3_uc011lhx.1_Silent_p.S3260S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3429	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATACCCATGAGATGGAAGGT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116631435	116631435	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:116631435C>T	uc003ynz.2	-	2	1310	c.851G>A	c.(850-852)CGT>CAT	p.R284H	TRPS1_uc011lhy.1_Missense_Mutation_p.R288H|TRPS1_uc003yny.2_Missense_Mutation_p.R297H|TRPS1_uc010mcy.2_Missense_Mutation_p.R284H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	284					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R284P(1)		ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAACACAGAACGGTTGACCTT	0.453000									Langer-Giedion_syndrome			
TAF2	6873	broad.mit.edu	37	8	120814048	120814048	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:120814048G>A	uc003you.2	-	6	1048	c.778C>T	c.(778-780)CCA>TCA	p.P260S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	260					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCATGTATGGATCTACCAGT	0.353000												
BAI1	575	broad.mit.edu	37	8	143562905	143562905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:143562905C>T	uc003ywm.2	+	10	2146	c.1963C>T	c.(1963-1965)CGA>TGA	p.R655*		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	655	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAAGGCTCAGCGAGGGCTGCC	0.642000												
ARHGAP39	80728	broad.mit.edu	37	8	145806488	145806488	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:145806488G>C	uc003zdt.1	-	4	809	c.254C>G	c.(253-255)GCC>GGC	p.A85G	ARHGAP39_uc011llk.1_Missense_Mutation_p.A85G|ARHGAP39_uc003zds.1_Missense_Mutation_p.A85G	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	85	WW 2.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTGCGTGCTGGCATTGTAGTA	0.677000												
BNC2	54796	broad.mit.edu	37	9	16436586	16436586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:16436586G>A	uc003zml.2	-	6	1746	c.1606C>T	c.(1606-1608)CGA>TGA	p.R536*	BNC2_uc011lmw.1_Nonsense_Mutation_p.R441*|BNC2_uc003zmm.2_Nonsense_Mutation_p.R494*|BNC2_uc003zmq.1_Nonsense_Mutation_p.R550*|BNC2_uc003zmr.1_Nonsense_Mutation_p.R573*|BNC2_uc003zmp.1_Nonsense_Mutation_p.R564*|BNC2_uc010mij.1_Nonsense_Mutation_p.R458*|BNC2_uc011lmv.1_Nonsense_Mutation_p.R362*|BNC2_uc003zmo.1_Nonsense_Mutation_p.R458*|BNC2_uc003zmj.2_Nonsense_Mutation_p.R301*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.R301*|BNC2_uc003zmn.1_Nonsense_Mutation_p.R301*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	536	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTGGGGGTCGGCCAGGGCTT	0.493000												
CNTNAP3	79937	broad.mit.edu	37	9	39178353	39178353	+	Silent	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:39178353A>C	uc004abi.2	-	5	782	c.543T>G	c.(541-543)TCT>TCG	p.S181S	CNTNAP3_uc004abj.2_Silent_p.S181S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.S181S|CNTNAP3_uc011lqs.1_Silent_p.S181S|CNTNAP3_uc004abl.1_Silent_p.S93S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	181	Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAACCACCTCAGATTCTAGGA	0.323000												
PRKACG	5568	broad.mit.edu	37	9	71628451	71628451	+	Silent	SNP	G	G	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:71628451G>A	uc004agy.2	-	1	589	c.558C>T	c.(556-558)TTC>TTT	p.F186F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	186	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						TGGCGAAACCGAAGTCCGTCA	0.622000												
TLE4	7091	broad.mit.edu	37	9	82322115	82322115	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:82322115T>G	uc004ald.2	+	12	1842	c.993T>G	c.(991-993)TTT>TTG	p.F331L	TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						AGAGATGGTTTTGTCGCCTGT	0.378000												
OR13C4	138804	broad.mit.edu	37	9	107289029	107289029	+	Silent	SNP	G	G	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:107289029G>T	uc011lvn.1	-	1	462	c.462C>A	c.(460-462)ATC>ATA	p.I154I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CAGTTGAATTGATTCCACCAG	0.413000												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918660	112918660	+	Silent	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:112918660T>G	uc004bej.3	+	9	3237	c.3057T>G	c.(3055-3057)CCT>CCG	p.P1019P	PALM2-AKAP2_uc004bek.3_Silent_p.P1019P|AKAP2_uc011lwi.1_Silent_p.P877P|AKAP2_uc004bem.2_Silent_p.P877P|AKAP2_uc011lwj.1_Silent_p.P788P|PALM2-AKAP2_uc004ben.2_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 protein isoform 1	788							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GCTTGCAGCCTGACTTAGCCC	0.512000												
ALAD	210	broad.mit.edu	37	9	116151291	116151291	+	Silent	SNP	G	G	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:116151291G>C	uc011lxf.1	-	11	1099	c.897C>G	c.(895-897)GCC>GCG	p.A299A	ALAD_uc011lxe.1_Silent_p.A282A|ALAD_uc004bhl.3_Silent_p.A328A	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	299					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	CCTCCAGTACGGCAGCCTTGA	0.602000												
PAPPA	5069	broad.mit.edu	37	9	118989747	118989747	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:118989747A>G	uc004bjn.2	+	6	2530	c.2149A>G	c.(2149-2151)AGA>GGA	p.R717G	PAPPA_uc011lxp.1_Missense_Mutation_p.R412G|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	717					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCTGGAAGGGAGAATCCTGGT	0.527000												
TLR4	7099	broad.mit.edu	37	9	120475916	120475916	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:120475916T>C	uc004bjz.2	+	3	1801	c.1510T>C	c.(1510-1512)TCT>CCT	p.S504P	TLR4_uc004bka.2_Missense_Mutation_p.S464P|TLR4_uc004bkb.2_Missense_Mutation_p.S304P	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	504	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						CCTGGACCTCTCTCAGTGTCA	0.438000												
SPTAN1	6709	broad.mit.edu	37	9	131367582	131367582	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:131367582C>T	uc004bvl.3	+	31	3985	c.3872C>T	c.(3871-3873)TCC>TTC	p.S1291F	SPTAN1_uc004bvm.3_Missense_Mutation_p.S1291F|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1271F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1291	Spectrin 14.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TAGGTAAACTCCCTTGGTGAA	0.522000												
RAPGEF1	2889	broad.mit.edu	37	9	134465308	134465308	+	Silent	SNP	C	C	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:134465308C>T	uc004cbc.2	-	16	2404	c.2274G>A	c.(2272-2274)ACG>ACA	p.T758T	RAPGEF1_uc004cbb.2_Silent_p.T776T	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	758	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCACGAAGAACGTGTTCTTGC	0.557000												
COL5A1	1289	broad.mit.edu	37	9	137666757	137666757	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:137666757A>G	uc004cfe.2	+	27	2766	c.2384A>G	c.(2383-2385)AAG>AGG	p.K795R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	795	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAGGAGTCAAGGTGAGAGAG	0.572000												
MXRA5	25878	broad.mit.edu	37	X	3239959	3239959	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:3239959T>G	uc004crg.3	-	5	3924	c.3767A>C	c.(3766-3768)AAG>ACG	p.K1256T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1256						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGGCTGGGCTTGGATCCGGA	0.468000												
DACH2	117154	broad.mit.edu	37	X	85950029	85950029	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:85950029A>T	uc004eew.2	+	5	948	c.778A>T	c.(778-780)AGT>TGT	p.S260C	DACH2_uc004eex.2_Missense_Mutation_p.S247C|DACH2_uc010nmq.2_Missense_Mutation_p.S126C|DACH2_uc011mra.1_Missense_Mutation_p.S93C|DACH2_uc010nmr.2_Missense_Mutation_p.S41C	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TTCAGGTGGAAGTGAATCCTC	0.413000												
SERPINA7	6906	broad.mit.edu	37	X	105281009	105281009	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:105281009A>C	uc004eme.1	-	1	57	c.41T>G	c.(40-42)CTT>CGT	p.L14R	SERPINA7_uc010npd.2_Missense_Mutation_p.L14R|SERPINA7_uc010npe.1_Missense_Mutation_p.L14R	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	14					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGTAGCATGAAGCCCAAGTAC	0.438000												
RGAG1	57529	broad.mit.edu	37	X	109694940	109694940	+	Silent	SNP	A	A	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:109694940A>G	uc004eor.1	+	3	1341	c.1095A>G	c.(1093-1095)CCA>CCG	p.P365P	RGAG1_uc011msr.1_Silent_p.P365P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	365										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AAACGATGCCAGCCCCAGGCT	0.537000												
MAGEA11	4110	broad.mit.edu	37	X	148798201	148798201	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:148798201T>C	uc004fdq.2	+	5	1157	c.1055T>C	c.(1054-1056)TTT>TCT	p.F352S	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.F323S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	352	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACTTCCTCTTTGGGGAGCCC	0.542000												
GPR50	9248	broad.mit.edu	37	X	150348896	150348896	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:150348896T>G	uc010ntg.1	+	2	976	c.841T>G	c.(841-843)TTC>GTC	p.F281V	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	281	Helical; Name=7; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCCTACTTCATAGCCTA	0.517000												
ACSL5	51703	broad.mit.edu	37	10	114171218	114171218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:114171218delC	uc001kzs.2	+	10	942	c.801delC	c.(799-801)GACfs	p.D267fs	ACSL5_uc001kzt.2_Frame_Shift_Del_p.D267fs|ACSL5_uc001kzu.2_Frame_Shift_Del_p.D323fs|ACSL5_uc009xxz.2_Frame_Shift_Del_p.D267fs|ACSL5_uc010qrj.1_Frame_Shift_Del_p.D49fs	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	267	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTACAGGTGACCCCAAAGGAG	0.403												
BEGAIN	57596	broad.mit.edu	37	14	101005015	101005016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:101005015_101005016insC	uc010txa.1	-	6	1218_1219	c.1072_1073insG	c.(1072-1074)GCCfs	p.A358fs	BEGAIN_uc001yhp.2_Frame_Shift_Ins_p.A294fs|BEGAIN_uc001yhq.2_Frame_Shift_Ins_p.A358fs	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	358						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CTCCAGCGGGGCCGCCACCGCG	0.718												
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; 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.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)		
UBE2NL	389898	broad.mit.edu	37	X	142967261	142967261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:142967261delT	uc004fca.2	+	1	89	c.59delT	c.(58-60)GTTfs	p.V20fs		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	20							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGCCAGTTCCTGGCATC	0.512												
GON4L	54856	broad.mit.edu	37	1	155650226	155650230	+	Frame_Shift_Del	DEL	ATCAG	ATCAG	-			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:155650225_155650229CATCAG>C	uc010pgi.2	-	1	605_609	c.413_417CTGATG>G	c.(412-417)ctgatgfs	p.L138fs	GON4L_uc021paz.1_Intron|GON4L_uc010pgh.2_5'Flank|GON4L_uc009wqt.3_5'UTR|GON4L_uc001flh.3_Frame_Shift_Del_p.L138fs|GON4L_uc001fll.3_Start_Codon_Del|GON4L_uc001flk.3_5'UTR|GON4L_uc001flm.3_Intron|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_5'UTR|GON4L_uc001flj.3_Start_Codon_Del|GON4L_uc001fli.3_Start_Codon_Del|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Frame_Shift_Del_p.L66fs|GON4L_uc010pgj.2_Frame_Shift_Del_p.L66fs|GON4L_uc001flp.3_Start_Codon_Del|GON4L_uc009wqx.3_Frame_Shift_Del_p.L138fs|GON4L_uc010pgk.2_Frame_Shift_Del_p.L138fs	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	589					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACAGATCTTCCATCAGCTCATTTGC	0.366												
RASAL2	9462	broad.mit.edu	37	1	178269183	178269185	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:178269182_178269184TGAG>T	uc001glq.3	+	2	1150_1152	c.386_388TGAG>T	c.(385-390)ctgagg>cTgg	p.R131del	RASAL2_uc009wxb.2_In_Frame_Del_p.R131del	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGCGATGCCTGAGGAGAACTGT	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CAPN2	824	broad.mit.edu	37	1	223934726	223934727	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:223934725_223934726CAG>C	uc001hob.4	+	4	811_812	c.587_588CAG>C	c.(586-588)tcafs	p.S196fs	CAPN2_uc010puy.2_Frame_Shift_Del_p.S118fs	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	196	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAAGCGCTATCAGGGGGTGCCA	0.530												
EXT1	2131	broad.mit.edu	37	8	119122981	119122982	+	Frame_Shift_Ins	INS	-	-	GACT			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:119122980_119122981G>GGACT	uc003yok.1	-	0	1078_1079	c.305_306C>AGTCC	c.(304-306)tccfs	p.S102fs		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	102					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AATCGAAGCAGGACTCCATGCG	0.480			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses			
SURF6	6838	broad.mit.edu	37	9	136199117	136199118	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:136199116_136199117C>CA	uc004cdb.4	-	4	752_753	c.674_675G>TG	c.(673-675)aagfs	p.K225fs		NM_006753	NP_006744	O75683	SURF6_HUMAN	Homo sapiens surfeit 6 (SURF6), mRNA.	225						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TGAGGTTCCCCTTCACCCTCTG	0.658												
ZFP36L1	677	broad.mit.edu	37	14	69256768	69256769	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:69256767_69256768C>CA	uc021rve.1	-	2	800_801	c.706_707G>TG	c.(706-708)tgcfs	p.C236fs	ZFP36L1_uc001xki.2_Frame_Shift_Ins_p.C167fs|ZFP36L1_uc001xkh.2_Frame_Shift_Ins_p.C167fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	167					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C167fs*66(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
