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
NPPA	4878	broad.mit.edu	37	1	11907324	11907324	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:11907324C>T	uc001ati.2	-	2	395	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	99					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGGCCCCGCCCGAGGGC	0.672000												
PADI2	11240	broad.mit.edu	37	1	17395663	17395663	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:17395663A>T	uc001baf.2	-	16	1956	c.1874T>A	c.(1873-1875)CTG>CAG	p.L625Q	PADI2_uc010ocm.1_Missense_Mutation_p.L509Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	625					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTCGAGGCCCAGGGGCTCCAG	0.597000												
ACTL8	81569	broad.mit.edu	37	1	18149652	18149652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:18149652G>A	uc001bat.2	+	2	365	c.149G>A	c.(148-150)CGT>CAT	p.R50H		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	50						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCGTAGGCGTGTGAGCCTG	0.607000												
CSMD2	114784	broad.mit.edu	37	1	34180299	34180299	+	Silent	SNP	G	G	A	rs143791523	byFrequency	TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:34180299G>A	uc001bxn.1	-	21	3203	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	CSMD2_uc001bxm.1_Silent_p.G1098G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1058	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCAAGGTGTCGCCCACGCCAA	0.662000												
SGIP1	84251	broad.mit.edu	37	1	67147694	67147694	+	Silent	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:67147694C>T	uc001dcr.2	+	15	1174	c.957C>T	c.(955-957)TCC>TCT	p.S319S	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Silent_p.S86S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CTGATACATCCCCGGAACATG	0.512000												
SGIP1	84251	broad.mit.edu	37	1	67148039	67148039	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:67148039G>A	uc001dcr.2	+	15	1519	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Silent_p.P201P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	434	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						GCCCTGGTCCGGGGACCACCA	0.602000												
RPAP2	79871	broad.mit.edu	37	1	92811435	92811435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:92811435C>T	uc001dot.2	+	11	1761	c.1652C>T	c.(1651-1653)GCG>GTG	p.A551V	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	551	Helical; (Potential).					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CACAAACCTGCGGAATGGACT	0.294000												
SASS6	163786	broad.mit.edu	37	1	100573401	100573401	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:100573401T>C	uc001dsu.2	-	9	1162	c.1021A>G	c.(1021-1023)ACA>GCA	p.T341A	SASS6_uc009wdz.2_Missense_Mutation_p.T174A	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	341	Potential.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GCCTCTTTTGTTCTTAAAACA	0.328000												
ASH1L	55870	broad.mit.edu	37	1	155448532	155448532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:155448532C>T	uc009wqq.2	-	3	4609	c.4129G>A	c.(4129-4131)GGA>AGA	p.G1377R	ASH1L_uc001fkt.2_Missense_Mutation_p.G1377R|ASH1L_uc009wqr.1_Missense_Mutation_p.G1377R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1377					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGATAGAATCCAGTACTAGAA	0.443000												
LRRC52	440699	broad.mit.edu	37	1	165513566	165513566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:165513566G>A	uc001gde.2	+	1	89	c.33G>A	c.(31-33)TGG>TGA	p.W11*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	11						integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCCCTGGGTGGTTACTCTTTT	0.522000												
NPL	80896	broad.mit.edu	37	1	182798028	182798028	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:182798028G>T	uc009wyb.2	+	13	1088	c.948G>T	c.(946-948)TTG>TTT	p.L316F	NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Missense_Mutation_p.L297F|NPL_uc009wyc.2_Intron|NPL_uc001gpp.3_Intron|NPL_uc001gpq.1_Missense_Mutation_p.L316F	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	316					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ATGGAAACTTGGAAGCTGGTA	0.403000												
REN	5972	broad.mit.edu	37	1	204131141	204131141	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:204131141G>A	uc001haq.2	-	2	293	c.249C>T	c.(247-249)GAC>GAT	p.D83D		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	83					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGCACTCACGTCCATGTAGT	0.572000												
TMCC2	9911	broad.mit.edu	37	1	205238338	205238338	+	Silent	SNP	C	C	T	rs145697603		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:205238338C>T	uc001hbz.1	+	4	1452	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	TMCC2_uc010prf.1_Silent_p.F258F|TMCC2_uc001hca.2_Silent_p.F111F|TMCC2_uc001hcb.1_Silent_p.F96F|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Silent_p.F103F	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	336	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAAGTGTTCGAGAAGAAGA	0.567000												
SRGAP2	23380	broad.mit.edu	37	1	206619529	206619529	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:206619529A>T	uc001hdy.2	+	15	2055	c.1722A>T	c.(1720-1722)CAA>CAT	p.Q574H	SRGAP2_uc010prt.1_Missense_Mutation_p.Q497H|SRGAP2_uc001hdx.2_Missense_Mutation_p.Q574H|SRGAP2_uc010pru.1_Missense_Mutation_p.Q497H|SRGAP2_uc010prv.1_Missense_Mutation_p.Q498H	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	661	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					TGTCCTGCCAAGCCCACGTGA	0.562000												
SLC39A12	221074	broad.mit.edu	37	10	18292192	18292192	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr10:18292192T>C	uc001ipo.2	+	12	2125	c.1852T>C	c.(1852-1854)TAC>CAC	p.Y618H	SLC39A12_uc001ipn.2_Missense_Mutation_p.Y581H|SLC39A12_uc001ipp.2_Missense_Mutation_p.Y617H|SLC39A12_uc010qck.1_Missense_Mutation_p.Y484H|uc001ipq.1_RNA	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	618	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CATGGGATTATACATTGGCCT	0.428000												
ARMC4	55130	broad.mit.edu	37	10	28225654	28225654	+	Splice_Site	SNP	C	C	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr10:28225654C>G	uc009xky.2	-	15	2350	c.2252_splice	c.e15+1	p.K751_splice	ARMC4_uc010qds.1_Splice_Site_p.K276_splice|ARMC4_uc010qdt.1_Splice_Site_p.K443_splice|ARMC4_uc001itz.2_Splice_Site_p.K751_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding			ovary(4)|skin(2)	6						CCTTCTCTTACTTGGTAACAT	0.398000												
LUZP2	338645	broad.mit.edu	37	11	25004701	25004701	+	Silent	SNP	T	T	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:25004701T>G	uc001mqs.2	+	9	861	c.627T>G	c.(625-627)ACT>ACG	p.T209T	LUZP2_uc009yif.2_Silent_p.T123T|LUZP2_uc009yig.2_Silent_p.T167T	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	209	Potential.					extracellular region				ovary(1)|skin(1)	2						TGAAAGAGACTGTGCAGCTCT	0.413000												
OSBP	5007	broad.mit.edu	37	11	59377920	59377920	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:59377920G>A	uc001noc.1	-	2	985	c.505C>T	c.(505-507)CGG>TGG	p.R169W		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	169	PH.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGCGCTGCCGCTCAACTTCT	0.557000												
ODZ4	26011	broad.mit.edu	37	11	78381504	78381504	+	Silent	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:78381504C>T	uc001ozl.3	-	32	6349	c.5886G>A	c.(5884-5886)GCG>GCA	p.A1962A	ODZ4_uc001ozk.3_Silent_p.A187A|ODZ4_uc009yvb.1_Silent_p.A546A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1962	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTGTCTGCCGCGCCACGTTGG	0.542000												
SYTL2	54843	broad.mit.edu	37	11	85445087	85445087	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:85445087T>A	uc010rth.1	-	6	1558	c.1282A>T	c.(1282-1284)ACT>TCT	p.T428S	SYTL2_uc010rtg.1_Missense_Mutation_p.T429S|SYTL2_uc010rti.1_Missense_Mutation_p.T428S|SYTL2_uc010rtj.1_Missense_Mutation_p.T380S|SYTL2_uc001pbf.3_Missense_Mutation_p.T428S|SYTL2_uc010rtf.1_Missense_Mutation_p.T286S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	428					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGTCTTGCAGTTAAAACTTCT	0.388000												
DDX10	1662	broad.mit.edu	37	11	108709278	108709278	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:108709278A>T	uc001pkm.2	+	14	2136	c.2071A>T	c.(2071-2073)ACT>TCT	p.T691S	DDX10_uc001pkl.1_Missense_Mutation_p.T691S	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	691							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GATAACATTTACTGATGAAGG	0.333000			T	NUP98	AML*							
OR10G9	219870	broad.mit.edu	37	11	123894262	123894262	+	Silent	SNP	G	G	A	rs139965523		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:123894262G>A	uc010sad.1	+	1	543	c.543G>A	c.(541-543)CCG>CCA	p.P181P		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGATGCACCGCCCATCCTGA	0.542000												
DCPS	28960	broad.mit.edu	37	11	126174022	126174023	+	Missense_Mutation	DNP	AC	AC	CG	rs141030550		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr11:126174022_126174023AC>CG	uc001qdp.2	+	1	376_377	c.47_48AC>CG	c.(46-48)GAC>GCG	p.D16A		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	mRNA decapping enzyme	16					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CGCGAATTGGACGTGGAGGAGG	0.663000												
CACNA1C	775	broad.mit.edu	37	12	2797944	2797944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:2797944C>T	uc009zdu.1	+	49	6678	c.6365C>T	c.(6364-6366)GCG>GTG	p.A2122V	CACNA1C_uc009zdv.1_Missense_Mutation_p.A2036V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkc.2_Missense_Mutation_p.A2058V|CACNA1C_uc001qke.2_Missense_Mutation_p.A2028V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A2047V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A2058V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A2045V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A2080V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A2047V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A2087V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qko.2_Missense_Mutation_p.A2059V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A2056V|CACNA1C_uc001qku.2_Missense_Mutation_p.A2074V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A2067V|CACNA1C_uc001qks.2_Missense_Mutation_p.A2039V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A2058V|CACNA1C_uc001qki.1_Missense_Mutation_p.A1846V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1810V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1775V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1835V|CACNA1C_uc010sea.1_Missense_Mutation_p.A730V|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.A357V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2122	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGGTGGAAGCGGTAGGTGAC	0.682000												
PHB2	11331	broad.mit.edu	37	12	7076368	7076368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:7076368C>T	uc001qsd.2	-	7	965	c.755G>A	c.(754-756)CGC>CAC	p.R252H	PHB2_uc010sft.1_Missense_Mutation_p.R214H|PHB2_uc001qse.1_RNA|PHB2_uc001qsf.1_RNA|PHB2_uc009zfn.1_RNA	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	252					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TCGAATCTTGCGAAGTTTGAT	0.532000												
LIMA1	51474	broad.mit.edu	37	12	50598452	50598452	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:50598452C>A	uc001rwj.3	-	6	921	c.747G>T	c.(745-747)GAG>GAT	p.E249D	LIMA1_uc001rwg.3_5'Flank|LIMA1_uc001rwh.3_Missense_Mutation_p.E89D|LIMA1_uc001rwi.3_Missense_Mutation_p.E89D|LIMA1_uc001rwk.3_Missense_Mutation_p.E249D|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	249					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						TCTCATTTTTCTCCGAGTCAA	0.338000												
SCN8A	6334	broad.mit.edu	37	12	52188352	52188352	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:52188352T>G	uc001ryw.2	+	26	4900	c.4722T>G	c.(4720-4722)TTT>TTG	p.F1574L		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1574	IV.|Helical; Name=S2 of repeat IV; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAAAATGTTTGCGTTGAGGC	0.483000												
NAV3	89795	broad.mit.edu	37	12	78415601	78415601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:78415601C>T	uc001syp.2	+	9	2155	c.1982C>T	c.(1981-1983)TCA>TTA	p.S661L	NAV3_uc001syo.2_Missense_Mutation_p.S661L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	661						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ATGGACTTATCATATAGTAAG	0.423000										HNSCC(70;0.22)		
ACACB	32	broad.mit.edu	37	12	109684073	109684073	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:109684073T>G	uc001tob.2	+	39	5510	c.5391T>G	c.(5389-5391)TTT>TTG	p.F1797L	ACACB_uc001toc.2_Missense_Mutation_p.F1797L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.F463L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1797					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACATCACCTTTCGCATTGGAT	0.567000												
RPH3A	22895	broad.mit.edu	37	12	113303287	113303287	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:113303287T>A	uc010syl.1	+	6	661	c.299T>A	c.(298-300)CTG>CAG	p.L100Q	RPH3A_uc001ttz.2_Missense_Mutation_p.L100Q|RPH3A_uc001tty.2_Missense_Mutation_p.L96Q|RPH3A_uc009zwe.1_Missense_Mutation_p.L96Q|RPH3A_uc010sym.1_Missense_Mutation_p.L51Q|RPH3A_uc001tua.2_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	100	RabBD.|FYVE-type.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGCTGCATACTGTGTGGAGAA	0.527000												
MED13L	23389	broad.mit.edu	37	12	116445251	116445251	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr12:116445251G>T	uc001tvw.2	-	11	2258	c.2203C>A	c.(2203-2205)CAA>AAA	p.Q735K		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	735					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCGTCCCTTGTTTGCATTTC	0.403000												
PSPC1	55269	broad.mit.edu	37	13	20346569	20346569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr13:20346569G>A	uc001uml.2	-	2	673	c.487C>T	c.(487-489)CTT>TTT	p.L163F	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	163	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ACTGGAGAAAGGTTCTTGACA	0.493000												
MYO16	23026	broad.mit.edu	37	13	109617206	109617206	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr13:109617206G>A	uc001vqt.1	+	20	2385	c.2259G>A	c.(2257-2259)GTG>GTA	p.V753V	MYO16_uc010agk.1_Silent_p.V775V|MYO16_uc001vqu.1_Silent_p.V553V|MYO16_uc010tjh.1_Silent_p.V265V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	753	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTTTTTGGTGAATACCATGA	0.398000												
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr14:47426671G>A	uc001wwj.3	-	9	1984	c.1788C>T	c.(1786-1788)TAC>TAT	p.Y596Y	MDGA2_uc001wwi.3_Silent_p.Y367Y|MDGA2_uc010ani.2_Silent_p.Y156Y	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	596	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCTTCACAGCGTACTCTGTGT	0.443000												
TTLL5	23093	broad.mit.edu	37	14	76165590	76165590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr14:76165590C>T	uc001xrx.2	+	7	767	c.562C>T	c.(562-564)CGG>TGG	p.R188W	TTLL5_uc001xrw.1_Missense_Mutation_p.R188W|TTLL5_uc010ask.1_Missense_Mutation_p.R188W|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	188	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAAGGGGGCGGGGCGTCTA	0.438000												
AHNAK2	113146	broad.mit.edu	37	14	105412999	105412999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr14:105412999G>A	uc010axc.1	-	7	8909	c.8789C>T	c.(8788-8790)GCG>GTG	p.A2930V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2830V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2930						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCACCTCCGCCTTGGGGCC	0.642000												
ATP8B4	79895	broad.mit.edu	37	15	50152665	50152665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr15:50152665C>T	uc001zxu.2	-	28	3447	c.3305G>A	c.(3304-3306)CGG>CAG	p.R1102Q	ATP8B4_uc010ber.2_Missense_Mutation_p.R975Q|ATP8B4_uc010ufd.1_Missense_Mutation_p.R912Q|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.R105Q	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1102	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTCTGCCACCGGCGGATCTG	0.502000												
SYNGR3	9143	broad.mit.edu	37	16	2043051	2043051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr16:2043051G>A	uc002cod.2	+	4	804	c.668G>A	c.(667-669)GGG>GAG	p.G223E		NM_004209	NP_004200	O43761	SNG3_HUMAN	synaptogyrin 3	223					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle					0						AGCCCCAAAGGGTACCAGGTG	0.701000												
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:7579311C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532000		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)		
MYH13	8735	broad.mit.edu	37	17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:10209864G>A	uc002gmk.1	-	37	5468	c.5378C>T	c.(5377-5379)ACG>ATG	p.T1793M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1793	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTCCTTCACCGTCTGCTCCAG	0.552000												
MYH13	8735	broad.mit.edu	37	17	10243522	10243522	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:10243522C>A	uc002gmk.1	-	18	2091	c.2001G>T	c.(1999-2001)AGG>AGT	p.R667S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	667	Myosin head-like.|Actin-binding (By similarity).				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGTGGGTGCTCCTTAAGTTAG	0.418000												
RAI1	10743	broad.mit.edu	37	17	17697280	17697280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:17697280C>T	uc002grm.2	+	3	1487	c.1018C>T	c.(1018-1020)CCC>TCC	p.P340S	RAI1_uc002grn.1_Missense_Mutation_p.P340S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	340						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GACCTTCAGCCCCAGCTCCAG	0.637000												
ACACA	31	broad.mit.edu	37	17	35567388	35567388	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:35567388G>A	uc002hnm.2	-	30	3780	c.3589C>T	c.(3589-3591)CTA>TTA	p.L1197L	ACACA_uc002hnk.2_Silent_p.L1119L|ACACA_uc002hnl.2_Silent_p.L1139L|ACACA_uc002hnn.2_Silent_p.L1197L|ACACA_uc002hno.2_Silent_p.L1234L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1197					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCTGTTTAGCGTAGGGATG	0.343000												
KRT39	390792	broad.mit.edu	37	17	39116589	39116589	+	Silent	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:39116589G>T	uc002hvo.1	-	6	1197	c.1161C>A	c.(1159-1161)TCC>TCA	p.S387S	KRT39_uc010wfm.1_Silent_p.S120S	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	387	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				ATTCCAGCCGGGACTTGACGT	0.478000												
BZRAP1	9256	broad.mit.edu	37	17	56399716	56399716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:56399716G>A	uc002ivx.3	-	10	2246	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	BZRAP1_uc010dcs.2_Missense_Mutation_p.R399W|BZRAP1_uc010wnt.1_Missense_Mutation_p.R459W	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	459						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCTGAGCCGAGCCTGTTCA	0.637000												
LAMA3	3909	broad.mit.edu	37	18	21531699	21531699	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr18:21531699C>G	uc002kuq.2	+	73	9780	c.9694C>G	c.(9694-9696)CCA>GCA	p.P3232A	LAMA3_uc002kur.2_Missense_Mutation_p.P3176A|LAMA3_uc002kus.3_Missense_Mutation_p.P1623A|LAMA3_uc002kut.3_Missense_Mutation_p.P1567A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3232	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCGGTCACACCAAAGCAGTC	0.527000												
TJP3	27134	broad.mit.edu	37	19	3746813	3746813	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:3746813A>T	uc010xhv.1	+	17	2360	c.2360A>T	c.(2359-2361)CAG>CTG	p.Q787L	TJP3_uc010xhs.1_Missense_Mutation_p.Q754L|TJP3_uc010xht.1_Missense_Mutation_p.Q718L|TJP3_uc010xhu.1_Missense_Mutation_p.Q763L|TJP3_uc010xhw.1_Missense_Mutation_p.Q773L	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	768	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGTACCAGGAGCTCAAG	0.662000												
FUT3	2525	broad.mit.edu	37	19	5844835	5844835	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:5844835C>T	uc002mdk.2	-	2	113	c.16G>A	c.(16-18)GCA>ACA	p.A6T	FUT3_uc002mdm.2_Missense_Mutation_p.A6T|FUT3_uc002mdj.2_Missense_Mutation_p.A6T|FUT3_uc002mdl.2_Missense_Mutation_p.A6T|uc002mdn.2_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	6	Cytoplasmic (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						GGCTTGGCTGCACCCAGGGGA	0.572000												
MUC16	94025	broad.mit.edu	37	19	9074307	9074307	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:9074307G>T	uc002mkp.2	-	3	13343	c.13139C>A	c.(13138-13140)ACA>AAA	p.T4380K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4382	Thr-rich.|Extracellular (Potential).|Ser-rich.				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						TGAAGATTCTGTCATTATCAG	0.468000												
S1PR5	53637	broad.mit.edu	37	19	10624548	10624548	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:10624548G>A	uc002mot.1	-	2	1197	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	S1PR5_uc002mou.1_Silent_p.G380G	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	380	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						CACCGGGGCTGCCTGTGGAGC	0.682000												
LRRC4B	94030	broad.mit.edu	37	19	51021504	51021504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:51021504G>A	uc002pss.2	-	3	1603	c.1466C>T	c.(1465-1467)ACG>ATG	p.T489M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	489	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CACGGTCACCGTGGTGAAGTA	0.433000												
ZNF134	7693	broad.mit.edu	37	19	58132648	58132648	+	Silent	SNP	T	T	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr19:58132648T>C	uc002qpn.2	+	3	1260	c.1161T>C	c.(1159-1161)CTT>CTC	p.L387L	ZNF134_uc002qpo.2_Silent_p.L214L|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	387	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCTCCCACCTTGTTCGACACC	0.483000												
ADCY3	109	broad.mit.edu	37	2	25057468	25057468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:25057468G>A	uc002rfs.3	-	10	2052	c.1853C>T	c.(1852-1854)CCC>CTC	p.P618L	ADCY3_uc002rfr.3_Missense_Mutation_p.P251L|ADCY3_uc010ykm.1_Missense_Mutation_p.P618L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	618	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTCCATCTCGGGGTCCATGAA	0.567000												
KLRAQ1	129285	broad.mit.edu	37	2	48687039	48687039	+	Silent	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:48687039C>T	uc002rwm.2	+	5	707	c.522C>T	c.(520-522)AAC>AAT	p.N174N	KLRAQ1_uc002rwi.1_Silent_p.N174N|KLRAQ1_uc002rwj.2_Silent_p.N174N|KLRAQ1_uc002rwl.2_Silent_p.N128N|KLRAQ1_uc002rwk.2_Silent_p.N174N|KLRAQ1_uc010yok.1_Silent_p.N174N	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	174	Potential.									ovary(1)	1						AGCTGCAGAACGACAAGGCTA	0.453000												
CD207	50489	broad.mit.edu	37	2	71058830	71058830	+	Splice_Site	SNP	A	A	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:71058830A>T	uc002shg.2	-	5	883	c.836_splice	c.e5+1	p.R279_splice		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin						defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						CCAGGGGCTTACCTCACACTT	0.592000												
TFCP2L1	29842	broad.mit.edu	37	2	122007204	122007204	+	Silent	SNP	T	T	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:122007204T>A	uc002tmx.2	-	3	327	c.234A>T	c.(232-234)CGA>CGT	p.R78R	TFCP2L1_uc010flr.2_Silent_p.R78R	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	78					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TCTCCAGTAGTCGGATTTCAT	0.453000												
LRP1B	53353	broad.mit.edu	37	2	142004919	142004919	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:142004919T>G	uc002tvj.1	-	5	1440	c.468A>C	c.(466-468)CAA>CAC	p.Q156H	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	156	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATTCATCTTGATCTAAAA	0.388000										TSP Lung(27;0.18)		
NEB	4703	broad.mit.edu	37	2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:152554096A>G	uc010fnx.2	-	14	1410	c.1219T>C	c.(1219-1221)TTC>CTC	p.F407L	NEB_uc010fny.1_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	407	Nebulin 10.				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)		TCGAGCTTGAATTTGGGGGTC	0.328000												
GALNT13	114805	broad.mit.edu	37	2	155306925	155306925	+	Silent	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:155306925A>G	uc002tyr.3	+	13	2100	c.1533A>G	c.(1531-1533)AGA>AGG	p.R511R	GALNT13_uc002tyt.3_3'UTR|GALNT13_uc010fod.2_3'UTR|uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	511	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TTTTACAGAGACTCACGTTGC	0.378000												
TTN	7273	broad.mit.edu	37	2	179469800	179469800	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:179469800G>A	uc010zfg.1	-	229	46624	c.46400C>T	c.(46399-46401)GCG>GTG	p.A15467V	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A9162V|TTN_uc010zfi.1_Missense_Mutation_p.A9095V|TTN_uc010zfj.1_Missense_Mutation_p.A8970V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16394							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)			CTCCCGGACCGCTTTGGGAAT	0.443000												
TTN	7273	broad.mit.edu	37	2	179592983	179592983	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:179592983G>T	uc010zfg.1	-	64	16060	c.15836C>A	c.(15835-15837)ACA>AAA	p.T5279K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T1940K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6206							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)			TTTTGCACTTGTAGATATTTC	0.388000												
AOX1	316	broad.mit.edu	37	2	201477352	201477352	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:201477352C>A	uc002uvx.2	+	14	1385	c.1284C>A	c.(1282-1284)TTC>TTA	p.F428L	AOX1_uc010zhf.1_5'UTR|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	428					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGTCAGCCTTCCGACAAGCCC	0.458000												
ABCA12	26154	broad.mit.edu	37	2	215843627	215843627	+	Silent	SNP	T	T	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:215843627T>C	uc002vew.2	-	32	5098	c.4878A>G	c.(4876-4878)AAA>AAG	p.K1626K	ABCA12_uc002vev.2_Silent_p.K1308K|ABCA12_uc010zjn.1_Silent_p.K553K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1626					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCCTGAGACTTTGGTGCTGA	0.542000												
IGFBP2	3485	broad.mit.edu	37	2	217525405	217525405	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:217525405G>T	uc010zjt.1	+	4	697	c.547G>T	c.(547-549)GTG>TTG	p.V183L	IGFBP2_uc010zju.1_Missense_Mutation_p.V118L	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	190					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		GGAGCTGGCCGTGTTCCGGGA	0.642000												
OBSL1	23363	broad.mit.edu	37	2	220422982	220422982	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:220422982G>A	uc010fwk.2	-	10	3483	c.3426C>T	c.(3424-3426)CAC>CAT	p.H1142H	OBSL1_uc002vmh.1_Silent_p.H133H|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Silent_p.H617H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1142	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGCTGGGCGTGGGGCAGGG	0.667000												
FAM124B	79843	broad.mit.edu	37	2	225266407	225266407	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:225266407T>A	uc002vnx.2	-	1	305	c.79A>T	c.(79-81)ACT>TCT	p.T27S	FAM124B_uc002vnw.2_Missense_Mutation_p.T27S	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	27							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TGGTCCAGAGTCCTCTGCAGA	0.562000												
DNER	92737	broad.mit.edu	37	2	230377546	230377546	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:230377546G>T	uc002vpv.2	-	6	1247	c.1100C>A	c.(1099-1101)GCA>GAA	p.A367E	DNER_uc010zly.1_Missense_Mutation_p.A95E	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	367	Extracellular (Potential).|EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTTTTCATTTGCATCAATACA	0.448000												
TBC1D20	128637	broad.mit.edu	37	20	419300	419300	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:419300G>A	uc002wds.2	-	8	1280	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	TBC1D20_uc002wdv.2_Missense_Mutation_p.A204V|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	381	Helical; (Potential).				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				CAGTGCAGCCGCTCCAAGTGC	0.537000												
SNPH	9751	broad.mit.edu	37	20	1281207	1281207	+	Missense_Mutation	SNP	C	C	T	rs139099290		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:1281207C>T	uc002wes.2	+	5	396	c.160C>T	c.(160-162)CGC>TGC	p.R54C	SNPH_uc002wet.2_Missense_Mutation_p.R98C	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	54					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						CCCTTGCAGGCGCTCCATGAA	0.622000												
PDYN	5173	broad.mit.edu	37	20	1961277	1961277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:1961277C>T	uc010gaj.2	-	3	699	c.457G>A	c.(457-459)GAT>AAT	p.D153N	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.D153N|PDYN_uc010zpt.1_5'UTR	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	153					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						ATGGCACCATCGTTCAGCTGG	0.572000												
RALY	22913	broad.mit.edu	37	20	32661668	32661668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:32661668G>A	uc002xab.2	+	5	671	c.373G>A	c.(373-375)GAC>AAC	p.D125N	RALY_uc010zui.1_Missense_Mutation_p.D125N|RALY_uc002xac.2_Intron|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D125N	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	125						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						CGACTTCTACGACAGGTGAGC	0.383000												
EPB41L1	2036	broad.mit.edu	37	20	34766563	34766563	+	Silent	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:34766563C>T	uc002xfb.2	+	5	630	c.459C>T	c.(457-459)GAC>GAT	p.D153D	EPB41L1_uc002xeu.2_Silent_p.D91D|EPB41L1_uc010zvo.1_Silent_p.D153D|EPB41L1_uc002xev.2_Silent_p.D153D|EPB41L1_uc002xew.2_Silent_p.D56D|EPB41L1_uc002xex.2_Silent_p.D122D|EPB41L1_uc002xey.2_Silent_p.D153D|EPB41L1_uc002xez.2_Silent_p.D91D	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	153	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ACTGGCTGGACCCCTCCAAGG	0.532000												
PTPRT	11122	broad.mit.edu	37	20	40944604	40944604	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:40944604A>C	uc002xkg.2	-	12	2082	c.1898T>G	c.(1897-1899)CTT>CGT	p.L633R	PTPRT_uc010ggj.2_Missense_Mutation_p.L633R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	633	Extracellular (Potential).|Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGACTTCTGAAGTCGCTCCTC	0.488000												
R3HDML	140902	broad.mit.edu	37	20	42966005	42966005	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:42966005C>A	uc002xls.1	+	1	380	c.208C>A	c.(208-210)CAC>AAC	p.H70N		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	70						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ACTGGATTATCACAACCACAT	0.622000												
KCNG1	3755	broad.mit.edu	37	20	49620679	49620679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:49620679C>T	uc002xwa.3	-	3	1734	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	480	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CTGCGCCCTCCGGAACATCAC	0.572000												
GNAS	2778	broad.mit.edu	37	20	57428581	57428581	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr20:57428581A>C	uc002xzw.2	+	1	546	c.261A>C	c.(259-261)GAA>GAC	p.E87D	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATTCAGGGAAGCTGGAGCCC	0.612000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
COL6A2	1292	broad.mit.edu	37	21	47552191	47552191	+	Missense_Mutation	SNP	G	G	A	rs145527336	by1000genomes	TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr21:47552191G>A	uc002zia.1	+	28	2867	c.2785G>A	c.(2785-2787)GTG>ATG	p.V929M	COL6A2_uc002zib.1_Missense_Mutation_p.V335M|COL6A2_uc002zic.1_Silent_p.S3S|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	929	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGCCATCGTGCGCAGCCC	0.667000												
PCNT	5116	broad.mit.edu	37	21	47858216	47858216	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr21:47858216T>A	uc002zji.3	+	41	9346	c.9239T>A	c.(9238-9240)CTG>CAG	p.L3080Q	PCNT_uc002zjj.2_Missense_Mutation_p.L2883Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3080	Interaction with NEK2.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAGAAGTTGCTGAAGCACCAT	0.557000												
RGL4	266747	broad.mit.edu	37	22	24034327	24034327	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:24034327G>A	uc002zxn.2	+	1	1280	c.110G>A	c.(109-111)CGC>CAC	p.R37H	LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.R37H|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	37					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						ACGCCAGGGCGCACGAGGGTC	0.612000												
MICALL1	85377	broad.mit.edu	37	22	38313789	38313789	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:38313789A>G	uc003aui.2	+	4	497	c.413A>G	c.(412-414)GAA>GGA	p.E138G		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	138						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					GTGGAACCAGAAGATGTGGCT	0.597000												
PICK1	9463	broad.mit.edu	37	22	38470942	38470942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:38470942G>A	uc003auq.2	+	13	1441	c.1051G>A	c.(1051-1053)GTG>ATG	p.V351M	PICK1_uc003aur.2_Missense_Mutation_p.V351M|PICK1_uc003aus.2_Missense_Mutation_p.V351M|PICK1_uc003aut.2_Missense_Mutation_p.V351M	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	351	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					CTGCTACGCAGTGCTGCGGGA	0.587000												
ADSL	158	broad.mit.edu	37	22	40745872	40745872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:40745872G>A	uc003ayp.3	+	2	249	c.190G>A	c.(190-192)GAG>AAG	p.E64K	ADSL_uc003ays.3_Missense_Mutation_p.E64K|ADSL_uc003ayq.3_Missense_Mutation_p.E64K|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.E64K	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	64					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						ACAAATCCAGGAGATGAAATC	0.413000												
PANX2	56666	broad.mit.edu	37	22	50616205	50616205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr22:50616205G>A	uc003bjn.3	+	2	1064	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	PANX2_uc003bjp.3_Missense_Mutation_p.R221H|PANX2_uc003bjo.3_Missense_Mutation_p.R355H	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	355	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AACGAGAACCGCGACCACATC	0.617000												
KCNH8	131096	broad.mit.edu	37	3	19554711	19554711	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:19554711A>C	uc003cbk.1	+	13	2524	c.2329A>C	c.(2329-2331)ACC>CCC	p.T777P	KCNH8_uc010hex.1_Missense_Mutation_p.T238P	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	777	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTCCCCCAAAACCAAGCAGGA	0.468000												
TRAK1	22906	broad.mit.edu	37	3	42264612	42264612	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:42264612A>G	uc003cky.2	+	16	2461	c.2245A>G	c.(2245-2247)ATT>GTT	p.I749V	TRAK1_uc011azi.1_Missense_Mutation_p.I728V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	749					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GGAGCGGGGCATTTCTGCTGC	0.637000												
CADPS	8618	broad.mit.edu	37	3	62459861	62459861	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:62459861T>C	uc003dll.2	-	24	3824	c.3464A>G	c.(3463-3465)GAA>GGA	p.E1155G	CADPS_uc003dlj.1_Missense_Mutation_p.E105G|CADPS_uc003dlk.1_Missense_Mutation_p.E603G|CADPS_uc003dlm.2_Missense_Mutation_p.E1116G|CADPS_uc003dln.2_Missense_Mutation_p.E1076G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1155					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGGCCCATTTCCATGCTGCA	0.358000												
FAM194A	131831	broad.mit.edu	37	3	150377783	150377783	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:150377783A>G	uc003eyg.2	-	14	1945	c.1888T>C	c.(1888-1890)TAC>CAC	p.Y630H	FAM194A_uc003eyh.2_Missense_Mutation_p.Y484H	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	630										skin(2)|ovary(1)	3						GAAGAAAGGTAGGAAGGTTGC	0.348000												
BCHE	590	broad.mit.edu	37	3	165547877	165547877	+	Silent	SNP	T	T	C			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:165547877T>C	uc003fem.3	-	2	1105	c.945A>G	c.(943-945)TCA>TCG	p.S315S	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	315					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAAAGTTTACTGACAAAGGAG	0.393000												
PIGG	54872	broad.mit.edu	37	4	502758	502758	+	Silent	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:502758C>T	uc003gak.3	+	5	1036	c.900C>T	c.(898-900)CCC>CCT	p.P300P	PIGG_uc003gaj.3_Silent_p.P300P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.P167P|PIGG_uc003gal.3_Silent_p.P211P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.P178P|PIGG_uc003gam.2_Silent_p.P211P|PIGG_uc003gan.2_Silent_p.P211P	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	300	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						AAAGGAAACCCGGTGAGAATT	0.393000												
LRRC66	339977	broad.mit.edu	37	4	52862164	52862164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:52862164C>T	uc003gzi.2	-	4	1037	c.1024G>A	c.(1024-1026)GGC>AGC	p.G342S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	342						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						AGACCAGAGCCGGCCTTTGCC	0.577000												
EMCN	51705	broad.mit.edu	37	4	101342536	101342536	+	Splice_Site	SNP	T	T	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:101342536T>G	uc003hvr.2	-	8	748	c.569_splice	c.e8-1	p.S190_splice	EMCN_uc011cel.1_Splice_Site_p.S177_splice|EMCN_uc011cem.1_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1							extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAATAATACCTAAAAAGAATT	0.388000												
FAT4	79633	broad.mit.edu	37	4	126412593	126412593	+	Silent	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:126412593A>G	uc003ifj.3	+	17	14616	c.14616A>G	c.(14614-14616)CAA>CAG	p.Q4872Q	FAT4_uc011cgp.1_Silent_p.Q3113Q|FAT4_uc003ifi.1_Silent_p.Q2349Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4872	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTATCTCAAGTCAATGAAT	0.473000												
DCHS2	54798	broad.mit.edu	37	4	155254426	155254426	+	Silent	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr4:155254426C>T	uc003inw.2	-	9	1437	c.1437G>A	c.(1435-1437)GCG>GCA	p.A479A	DCHS2_uc003inx.2_Silent_p.A978A	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	479	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTGAGGAACGCTGGGTGGT	0.602000												
MARCH6	10299	broad.mit.edu	37	5	10402501	10402501	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr5:10402501G>A	uc003jet.1	+	13	1242	c.1059G>A	c.(1057-1059)TTG>TTA	p.L353L	MARCH6_uc011cmu.1_Silent_p.L305L|MARCH6_uc003jeu.1_Silent_p.L51L|MARCH6_uc011cmv.1_Silent_p.L248L	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	353	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGTAGGGCTTGGCAACTCTTG	0.338000												
PCDHAC2	56134	broad.mit.edu	37	5	140348338	140348338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr5:140348338C>T	uc003lii.2	+	1	2227	c.1987C>T	c.(1987-1989)CGA>TGA	p.R663*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.R663*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	663	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGTCCGAGATAATGG	0.498000												
DST	667	broad.mit.edu	37	6	56347545	56347545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:56347545C>T	uc003pdf.2	-	83	15009	c.14981G>A	c.(14980-14982)CGC>CAC	p.R4994H	DST_uc003pcz.3_Missense_Mutation_p.R4816H|DST_uc011dxj.1_Missense_Mutation_p.R4845H|DST_uc011dxk.1_Missense_Mutation_p.R4856H|DST_uc003pcy.3_Missense_Mutation_p.R4490H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6902	Spectrin 19.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGTCTCCCAGCGTGTGCTTAA	0.527000												
FUT9	10690	broad.mit.edu	37	6	96651145	96651145	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:96651145C>A	uc003pop.3	+	3	455	c.114C>A	c.(112-114)TTC>TTA	p.F38L		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	38	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCTGGATCTTCAGTCCAATGG	0.403000												
SYNE1	23345	broad.mit.edu	37	6	152631870	152631870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:152631870G>A	uc010kiw.2	-	88	17451	c.16849C>T	c.(16849-16851)CGA>TGA	p.R5617*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.R141*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R141*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R5546*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R5617*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5617	Spectrin 17.|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)		ATCATCTGTCGCAACTCCTCA	0.368000										HNSCC(10;0.0054)		
PLG	5340	broad.mit.edu	37	6	161139469	161139469	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr6:161139469C>G	uc003qtm.3	+	8	994	c.931C>G	c.(931-933)CCA>GCA	p.P311A		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	311	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TAACAGGACACCAGAAAACTT	0.502000												
GPER	2852	broad.mit.edu	37	7	1132278	1132278	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:1132278C>A	uc010ksd.1	+	2	1303	c.914C>A	c.(913-915)ACG>AAG	p.T305K	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.T305K|GPER_uc003ska.1_Missense_Mutation_p.T305K|GPER_uc003skb.2_Missense_Mutation_p.T305K	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	305	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CACCCCCTCACGGGCCACATT	0.627000												
ZNF12	7559	broad.mit.edu	37	7	6731976	6731976	+	Silent	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:6731976A>G	uc003sqt.1	-	5	1151	c.597T>C	c.(595-597)TAT>TAC	p.Y199Y	ZNF12_uc011jxa.1_Silent_p.Y37Y|ZNF12_uc003sqs.1_Silent_p.Y161Y	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	199					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CATTTAGAGTATAAGGTTCCC	0.343000												
TMEM195	392636	broad.mit.edu	37	7	15458194	15458194	+	Missense_Mutation	SNP	T	T	C	rs146442781	byFrequency	TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:15458194T>C	uc003stb.1	-	5	768	c.598A>G	c.(598-600)ATC>GTC	p.I200V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	200					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TCTGTATGGATCCAAAATTGG	0.348000												
SFRP4	6424	broad.mit.edu	37	7	37955825	37955825	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:37955825G>A	uc003tfo.3	-	1	701	c.315C>T	c.(313-315)CGC>CGT	p.R105R		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	105	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						CGCAGTCGTCGCGCGCGCGTT	0.622000												
GLI3	2737	broad.mit.edu	37	7	42004495	42004495	+	Missense_Mutation	SNP	G	G	T	rs148622689		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:42004495G>T	uc011kbh.1	-	15	4267	c.4176C>A	c.(4174-4176)AGC>AGA	p.S1392R	GLI3_uc011kbg.1_Missense_Mutation_p.S1333R	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1392					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCTGGCGCCTGCTGCCCCCAA	0.617000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42005385	42005385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:42005385C>T	uc011kbh.1	-	15	3377	c.3286G>A	c.(3286-3288)GTG>ATG	p.V1096M	GLI3_uc011kbg.1_Missense_Mutation_p.V1037M	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1096					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TACTGCACCACGTCGTCCGGC	0.607000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
ABCA13	154664	broad.mit.edu	37	7	48314339	48314339	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:48314339C>A	uc003toq.2	+	17	5101	c.5076C>A	c.(5074-5076)TTC>TTA	p.F1692L	ABCA13_uc010kyr.2_Missense_Mutation_p.F1195L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1692					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAATGGATTTCTTTAAGAATA	0.383000												
ABCA13	154664	broad.mit.edu	37	7	48511147	48511147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:48511147G>A	uc003toq.2	+	45	12951	c.12926G>A	c.(12925-12927)CGC>CAC	p.R4309H	ABCA13_uc010kys.1_Missense_Mutation_p.R1384H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.R39H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4309					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TCATGCTGGCGCACAGATCCC	0.343000												
ZNF479	90827	broad.mit.edu	37	7	57187647	57187647	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:57187647G>T	uc010kzo.2	-	5	1746	c.1475C>A	c.(1474-1476)CCC>CAC	p.P492H		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATTTGTAGGGTTTCTCTCC	0.388000												
PCLO	27445	broad.mit.edu	37	7	82578926	82578926	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:82578926C>A	uc003uhx.2	-	6	11267	c.10978G>T	c.(10978-10980)GAT>TAT	p.D3660Y	PCLO_uc003uhv.2_Missense_Mutation_p.D3660Y|PCLO_uc010lec.2_Missense_Mutation_p.D625Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3591					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTAGCCATATCTGGATGCAGT	0.473000												
SAMD9	54809	broad.mit.edu	37	7	92732584	92732585	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:92732584_92732585CT>TC	uc003umf.2	-	3	3082_3083	c.2826_2827AG>GA	c.(2824-2829)TTAGGA>TTGAGA	p.G943R	SAMD9_uc003umg.2_Missense_Mutation_p.G943R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	943						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCAATTCCTAAGAATTTTT	0.381000												
PSMC2	5701	broad.mit.edu	37	7	102988185	102988185	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:102988185G>T	uc003vbs.2	+	1	97	c.27G>T	c.(25-27)CAG>CAT	p.Q9H	DNAJC2_uc003vbo.2_5'Flank|DNAJC2_uc010lix.2_5'Flank|DNAJC2_uc003vbp.2_5'Flank|DNAJC2_uc003vbq.1_5'Flank|DNAJC2_uc003vbr.1_5'Flank|PSMC2_uc011kln.1_Missense_Mutation_p.Q9H|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						GTGCCGATCAGCGGAAGACCA	0.577000												
CTTNBP2	83992	broad.mit.edu	37	7	117396625	117396625	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:117396625T>A	uc003vjf.2	-	12	3424	c.3332A>T	c.(3331-3333)CAG>CTG	p.Q1111L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1111										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGTAGTTCTGCATCATCTG	0.493000												
AKR1B10	57016	broad.mit.edu	37	7	134215525	134215525	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:134215525A>G	uc003vrr.2	+	2	517	c.197A>G	c.(196-198)AAG>AGG	p.K66R		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	66					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						ATCCAAGAGAAGGCTGTGAAG	0.517000												
RBM33	155435	broad.mit.edu	37	7	155457902	155457902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr7:155457902C>T	uc010lqk.1	+	2	445	c.77C>T	c.(76-78)GCG>GTG	p.A26V	RBM33_uc003wme.2_Missense_Mutation_p.A26V	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGCCTGGCGCGGAACGGTCG	0.458000												
DLC1	10395	broad.mit.edu	37	8	13356639	13356639	+	Silent	SNP	A	A	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:13356639A>G	uc003wwm.2	-	2	1386	c.942T>C	c.(940-942)GAT>GAC	p.D314D	DLC1_uc003wwn.2_Silent_p.D314D|DLC1_uc011kxy.1_Silent_p.D314D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	314					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						ACTGCATGCCATCTTCTGCCT	0.458000												
SORBS3	10174	broad.mit.edu	37	8	22428560	22428560	+	Silent	SNP	C	C	T	rs146729720		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:22428560C>T	uc003xbv.2	+	18	1909	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	SORBS3_uc003xbw.3_Silent_p.D181D	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	523					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCTGTGACGACGGCCCCCAGC	0.711000												
CYP7B1	9420	broad.mit.edu	37	8	65527645	65527645	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:65527645T>G	uc003xvj.2	-	4	1199	c.995A>C	c.(994-996)AAG>ACG	p.K332T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	332					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGACCCTTTCTTTTGACCTGT	0.443000												
PREX2	80243	broad.mit.edu	37	8	69020559	69020559	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:69020559G>A	uc003xxv.1	+	24	2958	c.2931G>A	c.(2929-2931)TCG>TCA	p.S977S	PREX2_uc011lez.1_Silent_p.S912S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	977					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACAAATCTTCGGAGCAAGGTA	0.363000												
ZFHX4	79776	broad.mit.edu	37	8	77618402	77618402	+	Silent	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:77618402G>A	uc003yav.2	+	2	2466	c.2079G>A	c.(2077-2079)ACG>ACA	p.T693T	ZFHX4_uc003yat.1_Silent_p.T693T|ZFHX4_uc003yau.1_Silent_p.T693T|ZFHX4_uc003yaw.1_Silent_p.T693T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	693						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGTTACACGTGTGGCTATA	0.507000										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77690512	77690512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:77690512C>A	uc003yav.2	+	4	3471	c.3084C>A	c.(3082-3084)TAC>TAA	p.Y1028*	ZFHX4_uc003yau.1_Nonsense_Mutation_p.Y1054*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Y1028*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1028	C2H2-type 7.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTGTGATTACACCACCAAGG	0.517000										HNSCC(33;0.089)		
ADCY8	114	broad.mit.edu	37	8	131793086	131793086	+	Silent	SNP	G	G	A	rs145809062		TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:131793086G>A	uc003ytd.3	-	18	3562	c.3306C>T	c.(3304-3306)GGC>GGT	p.G1102G	ADCY8_uc010mds.2_Silent_p.G971G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1102	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567000										HNSCC(32;0.087)		
FAM135B	51059	broad.mit.edu	37	8	139180179	139180179	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:139180179G>A	uc003yuy.2	-	12	1388	c.1217C>T	c.(1216-1218)CCG>CTG	p.P406L	FAM135B_uc003yux.2_Missense_Mutation_p.P307L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	406										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAAGATCACCGGCAGGGTGTT	0.547000										HNSCC(54;0.14)		
COL22A1	169044	broad.mit.edu	37	8	139609182	139609182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:139609182C>T	uc003yvd.2	-	62	4844	c.4397G>A	c.(4396-4398)CGG>CAG	p.R1466Q	COL22A1_uc011ljo.1_Missense_Mutation_p.R746Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1466	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGAATAAGCCGACGCAGGGT	0.527000										HNSCC(7;0.00092)		
KCNK9	51305	broad.mit.edu	37	8	140630778	140630778	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:140630778C>A	uc003yvf.1	-	2	912	c.848G>T	c.(847-849)CGG>CTG	p.R283L	KCNK9_uc003yvg.1_Missense_Mutation_p.R283L|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	283	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GTACCTGGGCCGGCTGGGCCG	0.657000												
PLEC	5339	broad.mit.edu	37	8	144993781	144993781	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:144993781C>T	uc003zaf.1	-	32	10789	c.10619G>A	c.(10618-10620)CGG>CAG	p.R3540Q	PLEC_uc003zab.1_Missense_Mutation_p.R3403Q|PLEC_uc003zac.1_Missense_Mutation_p.R3407Q|PLEC_uc003zad.2_Missense_Mutation_p.R3403Q|PLEC_uc003zae.1_Missense_Mutation_p.R3371Q|PLEC_uc003zag.1_Missense_Mutation_p.R3381Q|PLEC_uc003zah.2_Missense_Mutation_p.R3389Q|PLEC_uc003zaj.2_Missense_Mutation_p.R3430Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3540	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCGCTGGTTCCGCACGGGGTC	0.697000												
ASTN2	23245	broad.mit.edu	37	9	119976675	119976675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr9:119976675C>T	uc004bjs.1	-	3	1078	c.977G>A	c.(976-978)GGA>GAA	p.G326E	ASTN2_uc004bjr.1_Missense_Mutation_p.G326E|ASTN2_uc004bjt.1_Missense_Mutation_p.G326E	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	326	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCCTGGATGTCCCAGACTGTC	0.557000												
UBAC1	10422	broad.mit.edu	37	9	138831533	138831533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr9:138831533G>A	uc004cgt.2	-	8	1167	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	UBAC1_uc004cgs.1_Nonsense_Mutation_p.Q317*|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	317	UBA 2.					Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GCATTCTGCTGGTTGTTGTTC	0.358000												
GLRA2	2742	broad.mit.edu	37	X	14708969	14708969	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chrX:14708969G>T	uc010nep.2	+	9	1400	c.1068G>T	c.(1066-1068)AAG>AAT	p.K356N	GLRA2_uc010neq.2_Missense_Mutation_p.K356N|GLRA2_uc004cwe.3_Missense_Mutation_p.K356N|GLRA2_uc011mio.1_Missense_Mutation_p.K267N|GLRA2_uc011mip.1_Missense_Mutation_p.K334N	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	356	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAAGACAGAAGAGGCAGAATA	0.468000												
KIAA2022	340533	broad.mit.edu	37	X	73963017	73963017	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chrX:73963017A>T	uc004eby.2	-	3	1992	c.1375T>A	c.(1375-1377)TGT>AGT	p.C459S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	459					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TAGCGACTACAGTCCTTGATC	0.473000												
FLNA	2316	broad.mit.edu	37	X	153586887	153586887	+	Silent	SNP	G	G	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chrX:153586887G>T	uc004fkk.2	-	27	4773	c.4524C>A	c.(4522-4524)ACC>ACA	p.T1508T	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.T1508T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1508	Interaction with furin (By similarity).|Filamin 13.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATAATTGACGGTCTGGGTGC	0.607000												
CFHR5	81494	broad.mit.edu	37	1	196963208	196963210	+	Splice_Site	DEL	AGA	AGA	-			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:196963207_196963209TAGA>T	uc001gts.4	+	4	559	c.431_splice	c.e4-1	p.K144_splice		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	144					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTTTATTTTTAGAAGGAGAATG	0.315												
MUL1	79594	broad.mit.edu	37	1	20827849	20827850	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:20827849_20827850insT	uc001bdi.3	-	4	549_550	c.392_393insA	c.(391-393)CACfs	p.H131fs		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	131	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGCCATCCTCGTGGGGCACCAG	0.500												
TMEM39A	55254	broad.mit.edu	37	3	119165885	119165886	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:119165885_119165886insT	uc003eck.1	-	5	917_918	c.554_555insA	c.(553-555)AATfs	p.N185fs	TMEM39A_uc003ecl.1_Frame_Shift_Ins_p.N33fs	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	185	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GGAAAAGGAGATTGAGGACTGA	0.406												
MUL1	79594	broad.mit.edu	37	1	20827850	20827851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:20827849_20827850G>GT	uc001bdi.4	-	3	549_550	c.392_393C>AC	c.(391-393)cacfs	p.H131fs		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	131					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGCCATCCTCGTGGGGCACCAG	0.500												
CFHR5	81494	broad.mit.edu	37	1	196963208	196963210	+	Splice_Site	DEL	AGA	AGA	-			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr1:196963207_196963209TAGA>T	uc001gts.4	+	4	559	c.431_splice	c.e4-1	p.K144_splice		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	144					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTTTATTTTTAGAAGGAGAATG	0.315												
EHBP1	23301	broad.mit.edu	37	2	63092029	63092030	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr2:63092028_63092029G>GA	uc002sby.3	+	9	1507_1508	c.1025_1026G>GA	c.(1024-1026)agafs	p.R342fs	EHBP1_uc010fcp.3_Frame_Shift_Ins_p.R307fs|EHBP1_uc002sbx.2_Frame_Shift_Ins_p.R307fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.R307fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.R307fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	342				R -> G (in Ref. 2; AAQ97141 and 3; CAD38814).		cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTACAAAAAGAAAAAATATAA	0.381												
TMEM39A	55254	broad.mit.edu	37	3	119165886	119165887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr3:119165885_119165886A>AT	uc003eck.1	-	4	917_918	c.554_555T>AT	c.(553-555)aatfs	p.N185fs	TMEM39A_uc003ecl.1_Frame_Shift_Ins_p.N33fs	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	185						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGAAAAGGAGATTGAGGACTGA	0.406												
ZFPM2	23414	broad.mit.edu	37	8	106815342	106815342	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr8:106815341_106815341GA>G	uc003ymd.3	+	7	3054	c.3031_3031GA>G	c.(3031-3033)gaafs	p.E1011fs	ZFPM2_uc011lhs.2_Frame_Shift_Del_p.E742fs	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1011					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAAATGCAGAAAATGAATC	0.428												
ADAMTSL1	92949	broad.mit.edu	37	9	18474284	18474284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr9:18474283_18474283TC>T	uc003zne.4	+	0	205	c.53_53TC>T	c.(52-54)ttcfs	p.F18fs	ADAMTSL1_uc003znb.3_Frame_Shift_Del_p.F18fs|ADAMTSL1_uc003znc.4_Frame_Shift_Del_p.F18fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	18						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTCTGGCTTTCCTGCTCCTG	0.498												
ATMIN	23300	broad.mit.edu	37	16	81075923	81075926	+	Frame_Shift_Del	DEL	GTAG	GTAG	-			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr16:81075922_81075925TGTAG>T	uc002ffz.1	+	2	517_520	c.499_502TGTAG>T	c.(499-504)tgtagtfs	p.C167fs	ATMIN_uc002fga.2_Frame_Shift_Del_p.C9fs|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Frame_Shift_Del_p.C9fs	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	167					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GAAGCACAAATGTAGTAAGTGCAG	0.475												
TRIM37	4591	broad.mit.edu	37	17	57109355	57109364	+	Frame_Shift_Del	DEL	AATGGATCAA	AATGGATCAA	-			TCGA-BR-8483-01A-31D-2394-08	TCGA-BR-8483-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d30fed9-42a2-4523-9ac6-651c6ff7415f	03d0314b-41e2-44e2-b2be-c9aa8c2eee2b	g.chr17:57109354_57109363TAATGGATCAA>T	uc002iwy.4	-	17	2286_2295	c.1842_1851TTGATCCATTA>A	c.(1840-1851)attgatccattafs	p.I614fs	TRIM37_uc002iwz.4_Frame_Shift_Del_p.I614fs|TRIM37_uc002ixa.4_Frame_Shift_Del_p.I492fs|TRIM37_uc010woc.2_Frame_Shift_Del_p.I580fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	614						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTATTAAAATTAATGGATCAATGTCTAGTA	0.438									Mulibrey Nanism