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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCG1	9619	broad.mit.edu	37	21	43708014	43708014	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr21:43708014C>T	uc011aev.2	+	8	1096	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	ABCG1_uc002zam.3_Missense_Mutation_p.S308F|ABCG1_uc002zan.3_Missense_Mutation_p.S332F|ABCG1_uc002zao.3_Missense_Mutation_p.S327F|ABCG1_uc002zap.3_Missense_Mutation_p.S330F|ABCG1_uc002zaq.3_Missense_Mutation_p.S330F|ABCG1_uc002zar.3_Missense_Mutation_p.S341F|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	330					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGGTTGCATCCGGCGAGTAC	0.602000														427			14		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406163	92406163	+	Splice_Site	SNP	G	C	C			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:92406163G>C	uc003yez.3	+	18	2071	c.1832_splice	c.e18-1	p.A611_splice	SLC26A7_uc003yex.3_Splice_Site_p.A611_splice|SLC26A7_uc003yey.3_Splice_Site|SLC26A7_uc003yfa.3_Splice_Site_p.A611_splice	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	611	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTTCTTGAAGCTTCCTTGAT	0.363000														39			67		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265550	75265550	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr14:75265550C>T	uc001xqj.4	+	4	3674	c.3550C>T	c.(3550-3552)Cac>Tac	p.H1184Y	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	989	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTATCCATATCACCGGGATGA	0.493000														10			28		0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35399564	35399564	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr20:35399564G>A	uc010gfr.3	-	2	440	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	DSN1_uc002xfz.3_Missense_Mutation_p.H23Y|DSN1_uc002xfy.4_Intron|DSN1_uc010zvs.2_Intron|DSN1_uc002xga.3_Missense_Mutation_p.H23Y|DSN1_uc002xgc.3_Missense_Mutation_p.H7Y|DSN1_uc002xgb.3_Missense_Mutation_p.H7Y	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	23					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCCAATTGATGATCATGAGTC	0.393000														101			75		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163076404	163076404	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:163076404G>A	uc002ucd.3	-	6	653	c.445C>T	c.(445-447)Cca>Tca	p.P149S	FAP_uc010zct.2_Missense_Mutation_p.P124S|FAP_uc010fpe.1_Missense_Mutation_p.P116S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	149					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACTGAATTGGACGAGGAAGC	0.313000														27			25		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48848975	48848975	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:48848975G>T	uc003xqi.3	-	11	1273	c.1216C>A	c.(1216-1218)Cgt>Agt	p.R406S	PRKDC_uc003xqj.3_Missense_Mutation_p.R406S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	406					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGATAAACACGGTCGTCACCA	0.443000								Non-homologous end-joining						161			4		0.150653	0.152765	1	1	0
FEZ2	9637	broad.mit.edu	37	2	36808483	36808483	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:36808483G>A	uc002rpg.2	-	3	631	c.584C>T	c.(583-585)tCc>tTc	p.S195F	FEZ2_uc002rpf.2_Missense_Mutation_p.S24F|FEZ2_uc002rph.2_Missense_Mutation_p.S195F|FEZ2_uc002rpj.2_Missense_Mutation_p.S195F	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	195					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AATTTCCTGGGAAAGCATTGA	0.418000														123			60		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67016572	67016572	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr17:67016572G>A	uc002jhu.3	-	18	2700	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	ABCA9_uc010dez.3_Missense_Mutation_p.R853C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	853					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTAGGAAGCGAACTTTTGCT	0.398000														55			28		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149758	34149758	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:34149758G>T	uc004ddg.3	-	0	690	c.638C>A	c.(637-639)cCg>cAg	p.P213Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	213	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCTCCGGGCTTAGATG	0.632000														76			34		8.16277e-20	8.55711e-20	1	1	0
NEBL	10529	broad.mit.edu	37	10	21106623	21106623	+	Splice_Site	SNP	T	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:21106623T>A	uc001iqi.3	-	21	2453	c.2056_splice	c.e21-1	p.V686_splice	NEBL_uc001iqj.3_Splice_Site|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	686					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATATTTTACCTAAGAAGGATA	0.383000														35			24		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067170	46067170	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr21:46067170C>T	uc002zfr.4	+	0	840	c.795C>T	c.(793-795)tcC>tcT	p.S265S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	259						keratin filament		p.S265S(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCTGCCAGTCCAGCTGCTGCC	0.692000														87			44		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60897344	60897344	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr20:60897344G>A	uc002ycq.3	-	46	6394	c.6327C>T	c.(6325-6327)ctC>ctT	p.L2109L	LAMA5_uc021wfw.1_Silent_p.L2109L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2109	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGCTCAGGGAGCCCCCAGT	0.697000														12			6		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866437	139866437	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:139866437G>A	uc004fbg.1	-	0	287	c.95C>T	c.(94-96)cCt>cTt	p.P32L	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	32	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TTCCAACAAAGGTACGTCTTC	0.443000														106			76		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153137720	153137720	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:153137720G>A	uc004fjb.3	-	3	395	c.287C>T	c.(286-288)aCc>aTc	p.T96I	L1CAM_uc004fjc.3_Missense_Mutation_p.T96I|L1CAM_uc010nuo.3_Missense_Mutation_p.T91I|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.T91I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	96	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCGTGATGGTGAAGGAGCC	0.592000														86			52		0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103310477	103310477	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:103310477C>T	uc001kta.3	+	13	1791	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	BTRC_uc001ktb.3_Nonsense_Mutation_p.R524*|BTRC_uc001ktc.3_Nonsense_Mutation_p.R534*	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	560					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus		p.R560*(2)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAGAGTTTTTCGACTACAGTT	0.408000														25			33		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860873	860873	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:860873G>A	uc003gbm.4	-	20	2942	c.2743C>T	c.(2743-2745)Ctt>Ttt	p.L915F	GAK_uc003gbn.4_Missense_Mutation_p.L836F|GAK_uc010ibk.1_Missense_Mutation_p.L809F|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.L779F	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	915					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGGGCCCAAGGAGGCAGCTG	0.736000														21			14		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409572	56409572	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:56409572C>T	uc001njb.1	-	0	344	c.344G>A	c.(343-345)gGg>gAg	p.G115E	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GCACTCAGTCCCCAGGAAGGA	0.512000														45			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588843	179588843	+	Missense_Mutation	SNP	C	T	T	rs148072021	by1000genomes	TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:179588843C>T	uc021vsy.1	-	69	17636	c.17411G>A	c.(17410-17412)cGa>cAa	p.R5804Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2465Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6731	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5804L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTCTTCGTGTGAAAGA	0.418000														19			6		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	983033	983033	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:983033C>T	uc001ack.2	+	20	3647	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1199	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCAAATCCGTCCGCGCCA	0.617000														70			52		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84744883	84744883	+	Missense_Mutation	SNP	G	A	A	rs117241349		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:84744883G>A	uc021pvc.1	+	9	1712	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	NRG3_uc010qlz.1_Missense_Mutation_p.R537Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R538Q|NRG3_uc001kcp.2_Missense_Mutation_p.R341Q|NRG3_uc001kcq.2_Missense_Mutation_p.R188Q|NRG3_uc021pvd.1_Missense_Mutation_p.R317Q|NRG3_uc021pve.1_Missense_Mutation_p.R342Q|NRG3_uc021pvf.1_Missense_Mutation_p.R188Q|NRG3_uc021pvg.1_Missense_Mutation_p.R366Q|NRG3_uc021pvh.1_Missense_Mutation_p.R150Q|NRG3_uc021pvi.1_Missense_Mutation_p.R368Q|NRG3_uc021pvk.1_Missense_Mutation_p.R78Q|NRG3_uc001kcr.2_Missense_Mutation_p.R212Q|NRG3_uc021pvl.1_Missense_Mutation_p.R188Q	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	562					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R538Q(1)|p.R341Q(1)|p.D562H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAAACCCAACGAAATACATCA	0.408000														53			83		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487828	21487828	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:21487828G>A	uc002kuq.3	+	53	7030	c.6944G>A	c.(6943-6945)aGa>aAa	p.R2315K	LAMA3_uc002kur.3_Missense_Mutation_p.R2259K|LAMA3_uc002kus.4_Missense_Mutation_p.R706K|LAMA3_uc002kut.4_Missense_Mutation_p.R650K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2315	Domain II and I.				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			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	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)	GATGTGGAAAGAATTAAGGAC	0.488000														66			62		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494781	50494781	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr15:50494781C>T	uc001zxw.3	+	2	1018	c.786C>T	c.(784-786)atC>atT	p.I262I	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Silent_p.I27I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	262					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TCATCTATATCACTCTGCCCT	0.453000														86			50		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55972864	55972864	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:55972864C>T	uc003has.3	-	10	1828	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	KDR_uc003hat.1_Missense_Mutation_p.G509E|KDR_uc011bzx.2_Missense_Mutation_p.G509E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	509	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGTTTTTTCCTTCAATTAG	0.323000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				22			10		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987842	22987842	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:22987842T>C	uc001bgd.3	+	2	857	c.725T>C	c.(724-726)tTt>tCt	p.F242S		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	242	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACAGCATCTTTTCCGGGTTC	0.607000														88			75		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000														29			11		0	0	1	0	0
CCDC103	388389	broad.mit.edu	37	17	42980074	42980074	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr17:42980074C>T	uc002iho.3	+	3	701	c.618C>T	c.(616-618)tcC>tcT	p.S206S	FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	206										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				ACCCCAGATCCGTGAAGGAGG	0.632000														22			13		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196387641	196387641	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:196387641G>A	uc003fwv.3	+	2	1231	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	376						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GAGCCCCCCGGAGCGCTCACC	0.642000														88			37		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72107867	72107867	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:72107867G>A	uc002fby.3	+	1	112	c.82G>A	c.(82-84)Gat>Aat	p.D28N	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	28					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGATGTCACGGATATTTCAGG	0.507000														70			40		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300793	103300793	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:103300793C>T	uc002tca.3	+	4	1565	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	475						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTCTTCATTCTGGTAAGTAG	0.388000														85			57		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495543	103495543	+	Missense_Mutation	SNP	C	T	T	rs144948361		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:103495543C>T	uc004ely.3	-	3	656	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	196					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCTCTGATTTCGTTTCCACTT	0.433000														149			97		0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:4793724C>A	uc002mbf.3	+	0	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000														57			6		1	1	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113168926	113168926	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr9:113168926G>A	uc010mtz.3	-	37	9291	c.8954C>T	c.(8953-8955)tCa>tTa	p.S2985L	SVEP1_uc010mty.3_Missense_Mutation_p.S911L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2985	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTCTTGATGAATTTCCATG	0.463000														8			23		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072257	63072257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:63072257G>A	uc009yor.3	+	8	1702	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	498						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTGCCATGGATCATTTATG	0.458000														64			29		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980174	58980174	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:58980174C>T	uc001nnu.4	-	0	321	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	55	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGTCCACATTCCGCAGATTGT	0.488000														156			101		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139145027	139145027	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:139145027C>T	uc003yuy.3	-	19	4201	c.4030G>A	c.(4030-4032)Gaa>Aaa	p.E1344K	FAM135B_uc003yux.3_Missense_Mutation_p.E1245K|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1344										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			TTGATCATTTCTGCATAAACT	0.493000										HNSCC(54;0.14)				147			332		0	0	1	0	0
GINS3	64785	broad.mit.edu	37	16	58437029	58437029	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:58437029C>T	uc002enh.4	+	1	422	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	GINS3_uc010cdj.3_Silent_p.L111L|GINS3_uc002enj.4_Intron	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	Homo sapiens GINS complex subunit 3 (Psf3 homolog) (GINS3), transcript variant 2, mRNA.	72					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						ACCCTTGTGGCTGGCAAAAGG	0.448000														49			33		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														62			3		0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983339	11983339	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:11983339G>A	uc001atl.2	-	1	1432	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	KIAA2013_uc001atk.3_Missense_Mutation_p.P414L	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	414						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	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;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCGCCCCGGCCACAGGTT	0.642000														26			17		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370518	17370518	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:17370518G>A	uc002nfs.1	-	5	905	c.792C>T	c.(790-792)ccC>ccT	p.P264P	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.P200P|USHBP1_uc010eam.1_Silent_p.P192P	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	264							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCGAAGCAGGGGGTGAGCCA	0.562000														40			57		0	0	1	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371895	107371895	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:107371895C>A	uc001tme.1	-	1	2417	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	MTERFD3_uc001tmf.1_Missense_Mutation_p.G200C|MTERFD3_uc001tmg.1_Missense_Mutation_p.G200C|MTERFD3_uc021rdh.1_Missense_Mutation_p.G200C|MTERFD3_uc001tmh.1_Missense_Mutation_p.G200C	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCTCAGAGCCACCTACATCT	0.358000														44			3		1	1	1	1	0
RAG1	5896	broad.mit.edu	37	11	36594863	36594863	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:36594863C>T	uc021qgb.1	+	0	9	c.9C>T	c.(7-9)gcC>gcT	p.A3A	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.A3A	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	3	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCATGGCAGCCTCTTTCCCAC	0.388000									Familial Hemophagocytic Lymphohistiocytosis					75			46		0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479832	161479832	+	Missense_Mutation	SNP	T	A	A	rs141094947		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:161479832T>A	uc001gan.3	+	3	640	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_uc001gam.3_Missense_Mutation_p.F195Y|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527000														89			5		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771641	26771641	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr22:26771641C>T	uc003acb.3	+	14	3124	c.2928C>T	c.(2926-2928)taC>taT	p.Y976Y	SEZ6L_uc003acd.3_Silent_p.Y901Y|SEZ6L_uc011akd.2_Silent_p.Y963Y|SEZ6L_uc003ace.3_Silent_p.Y900Y|SEZ6L_uc011akc.2_Silent_p.Y965Y|SEZ6L_uc003acc.3_Silent_p.Y975Y|SEZ6L_uc003acf.1_Silent_p.Y748Y|SEZ6L_uc010gvc.1_Silent_p.Y672Y|SEZ6L_uc011ake.2_Intron	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	976						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGGAGCCTACATTTACATCA	0.582000														5			16		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911606	134911606	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:134911606C>T	uc003eqt.3	+	10	2446	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	EPHB1_uc003equ.3_Missense_Mutation_p.R252W	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	691	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACCAAGAGTCGGCCTGTCAT	0.527000														44			38		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4231212	4231212	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:4231212C>T	uc002lzu.3	+	1	100	c.92C>T	c.(91-93)cCc>cTc	p.P31L		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	31	Fibronectin type-III 1.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACACTGCCCCGGGTGCAA	0.637000														26			12		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90313685	90313685	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr9:90313685C>T	uc004apc.3	+	22	2864	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L	DAPK1_uc004apd.3_Missense_Mutation_p.S909L|DAPK1_uc011ltg.2_Missense_Mutation_p.S843L|DAPK1_uc011lth.2_Missense_Mutation_p.S646L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	909					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAAGACACATCGTTGCTGAAA	0.532000									Chronic Lymphocytic Leukemia, Familial Clustering of					12			20		0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23615801	23615801	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:23615801C>T	uc002kvm.3	-	7	1045	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SS18_uc002kvn.3_Intron|SS18_uc010xbf.2_Missense_Mutation_p.E241K|SS18_uc010xbg.2_Intron|SS18_uc010xbh.2_Intron|SS18_uc010xbi.2_Missense_Mutation_p.E300K|SS18_uc010dlz.1_Missense_Mutation_p.E271K	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	323	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATACCTCCTTCGTAGTAATGT	0.398000			T	"""SSX1,  SSX2"""	synovial sarcoma									10			4		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934443	68934443	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:68934443C>T	uc003hdt.1	-	6	697	c.648G>A	c.(646-648)ggG>ggA	p.G216G	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	216	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATGGCCATTCCCCTTCCATAG	0.522000														54			33		0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73590984	73590984	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:73590984T>A	uc001jsm.3	-	3	378	c.274A>T	c.(274-276)Aag>Tag	p.K92*		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	92	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	p.E91K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCACAGGTCTTCTCCAAGTAA	0.498000														9			22		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80547077	80547077	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr5:80547077G>A	uc003khc.4	+	2	368	c.126G>A	c.(124-126)cgG>cgA	p.R42R	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Silent_p.R42R|CKMT2_uc003khd.4_Silent_p.R42R|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42	Cardiolipin-binding (By similarity).				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCGAGGTCCGGGAGCAGCCTA	0.552000														57			113		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179517218	179517218	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:179517218G>A	uc021vsy.1	-	155	32017	c.31792C>T	c.(31792-31794)Cct>Tct	p.P10598S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11525	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTAGGAGGAGCCGCTGGC	0.388000														73			36		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52538156	52538156	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr15:52538156G>A	uc010bff.3	-	16	2225	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	688	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AACATACCTGGAAGGGTAGCT	0.448000														52			24		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15793996	15793996	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:15793996T>G	uc001awk.3	+	6	781	c.755T>G	c.(754-756)tTc>tGc	p.F252C		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	252	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCCTCCGTCTTCACGCGGGTC	0.622000														63			47		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367272	248367272	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:248367272C>T	uc010pzg.2	+	0	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCAGAGCATTCATGAAGATCT	0.428000														73			41		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751472	26751472	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:26751472C>T	uc003cdp.3	+	1	898	c.309C>T	c.(307-309)atC>atT	p.I103I	LRRC3B_uc003cdq.3_Silent_p.I103I|LRRC3B_uc021wuj.1_Silent_p.I103I	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	103						integral to membrane		p.I103I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTGAGTTTATCGATGAGCATG	0.418000														32			22		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712370	41712370	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:41712370C>T	uc002opw.3	+	8	1547	c.1492C>T	c.(1492-1494)Cac>Tac	p.H498Y	CYP2S1_uc010xvx.2_Missense_Mutation_p.H223Y	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	498					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CACTGACCTTCACTCCACCAC	0.612000														92			61		0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														71			7		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385842	54385842	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:54385842G>A	uc002qcq.1	+	0	376	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	PRKCG_uc010eqz.1_Missense_Mutation_p.E32K|PRKCG_uc010yef.1_Missense_Mutation_p.E32K|PRKCG_uc010yeg.1_Missense_Mutation_p.E32K|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	32					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGTGGTCCACGAAGTCAAGAG	0.642000														85			56		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18671873	18671873	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr17:18671873G>A	uc002gul.3	+	8	2050	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	FBXW10_uc002guj.3_Silent_p.V577V|FBXW10_uc002guk.3_Silent_p.V577V|FBXW10_uc010cqh.2_Silent_p.V577V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	577										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGGAGCCGTGAAATGCCTGT	0.532000														45			21		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17034973	17034973	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr17:17034973G>A	uc002gqv.2	+	4	551	c.462G>A	c.(460-462)caG>caA	p.Q154Q	MPRIP_uc002gqu.2_Silent_p.Q154Q	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	154	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCAACAAGCAGAATCAGAAGA	0.567000														45			30		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15989294	15989294	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:15989294C>T	uc003goo.2	-	18	2334	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	PROM1_uc003gor.2_Missense_Mutation_p.G708R|PROM1_uc003gos.2_Missense_Mutation_p.G699R|PROM1_uc003got.2_Missense_Mutation_p.G708R|PROM1_uc003gou.2_Missense_Mutation_p.G699R|PROM1_uc003gop.2_Missense_Mutation_p.G699R|PROM1_uc003goq.3_Missense_Mutation_p.G699R	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	708					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAACAATCCATTCCCTGTG	0.358000														86			57		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:124887093C>T	uc021rga.1	-	13	1614	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_uc021rgb.1_Silent_p.Q499Q|NCOR2_uc010tbb.2_Silent_p.Q499Q|NCOR2_uc010tbc.2_Silent_p.Q498Q|NCOR2_uc021rgc.1_Silent_p.Q498Q|NCOR2_uc010tba.2_Silent_p.Q499Q|NCOR2_uc001ugj.1_Silent_p.Q499Q	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(14)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000														14			3		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56376664	56376664	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:56376664C>T	uc002lhm.1	+	4	962	c.704C>T	c.(703-705)tCc>tTc	p.S235F	MALT1_uc002lhn.1_Missense_Mutation_p.S235F	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	235	Ig-like C2-type 2.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GAACCAACTTCCCAAAAGCTG	0.363000			T	BIRC3	MALT									38			32		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884562	24884562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr14:24884562C>T	uc001wpf.4	+	8	3925	c.3607C>T	c.(3607-3609)Cag>Tag	p.Q1203*		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1203					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAGGGCCCCCAGTCAGGGGG	0.622000														31			48		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029272	32029272	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr6:32029272G>A	uc003nzl.2	-	20	7596	c.7394C>T	c.(7393-7395)aCc>aTc	p.T2465I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2525					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCCACGGTGACCTCGCT	0.697000														72			56		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187206838	187206838	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:187206838C>T	uc003iza.1	+	11	1684	c.1351C>T	c.(1351-1353)Caa>Taa	p.Q451*		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	451	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CATTTTAAATCAATCTGAAAT	0.353000														48			30		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175671	159175671	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:159175671G>A	uc001ftp.4	+	0	623	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	DARC_uc001fto.3_Missense_Mutation_p.G148R	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	148					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TTTGCTGCTAGGGTGCCATGC	0.642000														21			9		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123554186	123554186	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:123554186C>T	uc010nqy.3	-	24	5021	c.4957G>A	c.(4957-4959)Gaa>Aaa	p.E1653K	ODZ1_uc011muj.2_Missense_Mutation_p.E1652K|ODZ1_uc004euj.3_Missense_Mutation_p.E1646K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1646					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CATCCATTTTCGTTACTTTTG	0.398000														91			49		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328204	126328204	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:126328204G>A	uc003ifj.4	+	2	5477	c.5477G>A	c.(5476-5478)aGa>aAa	p.R1826K	FAT4_uc011cgp.2_Missense_Mutation_p.R124K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1826	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCGGATATGAGAATTAATATC	0.473000														97			55		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580369	96580369	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:96580369C>T	uc010qnz.2	+	5	936	c.936C>T	c.(934-936)ctC>ctT	p.L312L	CYP2C19_uc010qny.2_Silent_p.L290L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	312					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTCTCCTTCTCCTGCTGAAGC	0.453000														24			48		0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36631958	36631958	+	Silent	SNP	C	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:36631958C>G	uc002odi.1	+	1	202	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_uc002odk.3_Silent_p.G15G|CAPNS1_uc002odj.3_Silent_p.G15G|CAPNS1_uc002odl.3_Silent_p.G15G	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736000														33			3		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904316	55904316	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:55904316C>T	uc010riz.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATCATTATTCCTCAGGCTGT	0.358000														51			23		0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119165985	119165985	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:119165985T>C	uc003eck.1	-	4	818	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	152						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)		CAGAACCATGTAGTGAATCAT	0.408000														44			24		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17109501	17109501	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:17109501G>A	uc011awc.2	+	5	3220	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K	PLCL2_uc011awd.2_Missense_Mutation_p.E924K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1050					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGGTTTGAAGGAAAGAAAACT	0.383000														62			27		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552515	1552515	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr20:1552515C>T	uc010gai.3	-	2	701	c.602G>A	c.(601-603)gGa>gAa	p.G201E	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	201	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CACACTGTCTCCTGCGGGGTC	0.557000														101			69		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657293	40657293	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:40657293C>T	uc002rrx.3	-	0	152	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SLC8A1_uc002rry.3_Missense_Mutation_p.G43E|SLC8A1_uc002rsb.2_Missense_Mutation_p.G43E|SLC8A1_uc002rrz.3_Missense_Mutation_p.G43E|SLC8A1_uc002rsa.3_Missense_Mutation_p.G43E|SLC8A1_uc002rsd.4_Missense_Mutation_p.G43E|SLC8A1_uc010fan.1_Missense_Mutation_p.G43E|SLC8A1_uc002rsc.1_Missense_Mutation_p.G43E	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	43					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTTCATTTCCTTCTCCTTC	0.413000														73			38		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38301806	38301806	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:38301806C>T	uc003tge.1	-	5	1148	c.771G>A	c.(769-771)atG>atA	p.M257I	ARPP21_uc022aby.1_Missense_Mutation_p.M53I|ARPP21_uc003tfv.3_Intron|ARPP21_uc003tfx.1_5'Flank|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.M53I|ARPP21_uc003tgc.1_Missense_Mutation_p.M53I|ARPP21_uc003tgd.1_Missense_Mutation_p.M53I			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTTGGGATCCATTGTGATGA	0.358000														98			70		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919470	21919470	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:21919470C>T	uc001rff.3	-	2	800	c.462G>A	c.(460-462)ttG>ttA	p.L154L		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	154						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCGTGATGGCCAAAGGGCATT	0.443000														36			24		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23352000	23352000	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:23352000G>T	uc003swg.3	-	14	1987	c.1721C>A	c.(1720-1722)cCt>cAt	p.P574H	IGF2BP3_uc003swf.3_Missense_Mutation_p.P193H	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	574					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCTTGACTGAGGTGGTCCACT	0.498000														86			42		1.51926e-22	1.60038e-22	1	1	0
LPHN1	22859	broad.mit.edu	37	19	14262131	14262131	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:14262131C>A	uc010xnn.2	-	23	4275	c.3979G>T	c.(3979-3981)Ggt>Tgt	p.G1327C	LPHN1_uc010xno.2_Missense_Mutation_p.G1322C|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTCAGCACCCCCGGGCCCG	0.721000														4			4		0.00909568	0.00926649	1	1	0
TTN	7273	broad.mit.edu	37	2	179594659	179594659	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:179594659G>A	uc021vsy.1	-	59	14814	c.14589C>T	c.(14587-14589)ttC>ttT	p.F4863F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1524F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5790	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4862R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTTAATGAATTGAGGAG	0.428000														7			7		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863874	55863874	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:55863874C>T	uc010spn.2	-	0	49	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGAGAATTATCCGTCAGTCCC	0.353000														28			21		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6929856	6929856	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr17:6929856G>A	uc010clt.1	+	5	1032	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	BCL6B_uc002geg.2_Missense_Mutation_p.E324K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	324						nucleus	zinc ion binding			skin(1)	1						TCCTGGGGACGAAGACAAACC	0.562000														102			73		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75722644	75722644	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr15:75722644C>T	uc002bai.3	-	1	332	c.73G>A	c.(73-75)Gag>Aag	p.E25K	SIN3A_uc002baj.3_Missense_Mutation_p.E25K|SIN3A_uc010uml.2_Missense_Mutation_p.E25K|SIN3A_uc002bak.4_Missense_Mutation_p.E25K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	25					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGAAAAGCCTCTGTGCTGCCA	0.577000														47			23		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111440472	111440472	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:111440472C>T	uc001dzw.3	+	7	717	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CD53_uc001dzx.3_Silent_p.F182F|CD53_uc010owa.2_Silent_p.F123F	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	182					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATTCCAATTTCCTGTATATCG	0.378000														58			42		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144887330	144887330	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:144887330G>T	uc003yzp.1	-	18	2629	c.2622C>A	c.(2620-2622)ttC>ttA	p.F874L	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.F874L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	874	Interaction with ARHGEF7.|PDZ 2.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGCAATGCTGAAGCCCAGCC	0.726000														53			13		4.14922e-12	4.32875e-12	1	1	0
BET1	10282	broad.mit.edu	37	7	93625629	93625629	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:93625629G>A	uc003unf.1	-	2	311	c.149C>T	c.(148-150)tCc>tTc	p.S50F	BET1_uc003une.4_Non-coding_Transcript	NM_005868	NP_005859	O15155	BET1_HUMAN	Homo sapiens blocked early in transport 1 homolog (S. cerevisiae) (BET1), mRNA.	50	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			TATTTCAATGGAAAGCTATAA	0.279000														86			28		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283903	152283903	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:152283903G>A	uc001ezu.1	-	2	3495	c.3459C>T	c.(3457-3459)tcC>tcT	p.S1153S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1153	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGCCTGGAGCTGTCTC	0.597000									Ichthyosis					400			218		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:73063804G>A	uc004ebm.1	-	0		c.8785C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCCTTGGAGGGAAACAGTATA	0.383000														16			11		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22265815	22265815	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr14:22265815C>T	uc010air.1	+	1	230	c.98C>T	c.(97-99)tCt>tTt	p.S33F	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		GTAATTCTCTCTGAAGCAGCC	0.458000														45			75		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76072993	76072993	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr15:76072993G>A	uc010umm.1	+	4	382	c.305G>A	c.(304-306)aGt>aAt	p.S102N	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AAAACCAACAGTGAAATACAC	0.483000														50			32		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696524	49696524	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr6:49696524C>T	uc021zai.1	-	7	814	c.726G>A	c.(724-726)ttG>ttA	p.L242L	CRISP3_uc003ozs.3_Silent_p.L232L	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	219					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATGTGAGCTTCAAACTTTTAC	0.363000														56			24		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201637	71201637	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:71201637G>A	uc003hff.3	+	0	967	c.881G>A	c.(880-882)gGa>gAa	p.G294E	CABS1_uc021xoz.1_Missense_Mutation_p.G294E	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	294						flagellum	calcium ion binding	p.G294*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTACCGAGGGAGCCAGTATT	0.423000														57			24		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136259526	136259526	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr9:136259526C>T	uc004cdk.3	+	7	753	c.692C>T	c.(691-693)tCc>tTc	p.S231F	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	231	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCAGCTGCTCCTTCATGGAT	0.617000														35			38		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244079	46244079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:46244079C>T	uc001ros.1	+	14	2173	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q725*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q181*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q352*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q59*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	725					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCATACCCCAGACAGGAGT	0.443000			"""N, S, F"""		hepatocellular carcinoma									61			39		0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28625822	28625822	+	Silent	SNP	A	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:28625822A>G	uc003xha.3	-	16	2117	c.1818T>C	c.(1816-1818)atT>atC	p.I606I	INTS9_uc011lav.2_Silent_p.I582I|INTS9_uc011law.2_Silent_p.I585I|INTS9_uc011lax.2_Silent_p.I499I|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	606					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCTCCACCTTAATATCACTGA	0.507000														45			98		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927264	166927264	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:166927264G>A	uc001gdx.2	-	1	177	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	41	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGTGGCAGCGAAGCACAGTG	0.542000														112			81		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814320	106814320	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:106814320G>A	uc003ymd.3	+	7	2033	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	ZFPM2_uc011lhs.2_Silent_p.V401V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	670					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)			CTGTTGATGTGAAAAATCCCA	0.443000														21			40		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43824155	43824155	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:43824155C>T	uc010skx.2	-	23	3381	c.3381_splice	c.e23+1	p.Q1127_splice	ADAMTS20_uc001rno.1_Splice_Site_p.Q281_splice|ADAMTS20_uc001rnp.1_Splice_Site_p.Q281_splice	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1127	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTTTTTACCTGTCTGTCAC	0.348000														18			10		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96136820	96136820	+	RNA	SNP	C	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr14:96136820C>A	uc001yep.1	+	7		c.1619C>A			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CACACTGGGCCAAGAGCAGCT	0.453000			T	TRA@	T-ALL									16			19		6.44725e-10	6.69404e-10	1	1	0
SLC24A2	25769	broad.mit.edu	37	9	19786271	19786271	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr9:19786271G>A	uc003zoa.2	-	0	747	c.594C>T	c.(592-594)atC>atT	p.I198I	SLC24A2_uc003zob.2_Silent_p.I198I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	198					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.I198I(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGCTGTGAGCGATAAATACCC	0.458000														15			26		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53761967	53761967	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:53761967C>T	uc002qbi.2	+	0	423	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	113					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATTATATGTTCCTTTACTTTA	0.433000														25			20		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915278	48915278	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:48915278A>G	uc002rwu.4	-	10	1728	c.1658T>C	c.(1657-1659)gTt>gCt	p.V553A	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	553					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGGTTTCGAACTGCAAAATA	0.373000														61			33		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147333	129147333	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:129147333C>G	uc022cdu.1	+	2	629	c.585C>G	c.(583-585)aaC>aaG	p.N195K	BCORL1_uc010nrd.1_Missense_Mutation_p.N97K	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	195					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTACCACTAACTTCAGTCCTC	0.582000														160			98		0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670351	156670351	+	Missense_Mutation	SNP	C	T	T	rs146571038	byFrequency	TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:156670351C>T	uc001fpr.3	-	2	570	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CRABP2_uc021pbi.1_Missense_Mutation_p.D117N	NM_001878	NP_001869	P29373	RABP2_HUMAN	Homo sapiens cellular retinoic acid binding protein 2 (CRABP2), transcript variant 1, mRNA.	117					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGTTCCCCATCGTTGGTCAGT	0.547000														59			34		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569004	61569004	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:61569004C>T	uc010xeu.2	+	6	899	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SERPINB2_uc002ljo.3_Missense_Mutation_p.S189F|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	189					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCTGAAGGTTCTGTAGATGGG	0.368000														53			23		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801324	185801324	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:185801324C>T	uc002uph.3	+	3	1795	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	401						intracellular	zinc ion binding	p.P401T(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACATTGGCCCCTTCAAATAC	0.383000														47			28		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115585523	115585523	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:115585523C>T	uc004eqi.3	+	9	1450	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	440					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.F439I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GATTTATTTCCCAAAGTGATG	0.388000														28			22		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774425	151774425	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:151774425G>A	uc001ezf.1	-	1	946	c.756C>T	c.(754-756)ctC>ctT	p.L252L	LINGO4_uc021oyu.1_Silent_p.L252L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	252						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTGAGATTGAGCCCAACCA	0.637000														42			28		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518287	84518287	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:84518287G>A	uc010ffz.1	+	0	482	c.345G>A	c.(343-345)caG>caA	p.Q115Q						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		AGAGCACTCAGATACCTAACC	0.468000														64			28		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410684	153410684	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:153410684G>A	uc010pdx.2	-	1	233	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGAAGTTGGGGAAGTTCTC	0.512000														59			23		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128498177	128498177	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:128498177C>T	uc003vnz.4	+	46	8105	c.7896C>T	c.(7894-7896)tcC>tcT	p.S2632S	FLNC_uc003voa.4_Silent_p.S2599S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2632	Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAAGTTCTCCTCAGATGCCA	0.612000														26			19		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46914607	46914607	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:46914607G>A	uc001ndn.4	-	12	1857	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	538					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATCCAGATTGGCCACCTCAA	0.572000														30			9		0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494170	139494170	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr5:139494170C>A	uc003lfa.3	+	0	463	c.404C>A	c.(403-405)gCg>gAg	p.A135E		NM_005859	NP_005850	Q00577	PURA_HUMAN	Homo sapiens purine-rich element binding protein A (PURA), mRNA.	135					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCCCAGGCGCAGGACGAG	0.667000														3			2		1	1	1	1	0
CASD1	64921	broad.mit.edu	37	7	94184838	94184838	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:94184838C>T	uc003uni.4	+	17	2389	c.2162C>T	c.(2161-2163)gCg>gTg	p.A721V	CASD1_uc003unj.4_Missense_Mutation_p.A721V	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	721						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGCTGGCAGCGGACACAAGG	0.378000														44			3		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665929	665929	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:665929C>T	uc001qii.1	+	14	2277	c.2277C>T	c.(2275-2277)aaC>aaT	p.N759N	B4GALNT3_uc001qik.1_Silent_p.N308N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	759						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCCACACAACCGTAGGAGAC	0.642000														29			17		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109818714	109818714	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr6:109818714G>A	uc003ptn.2	-	37	5346	c.5269C>T	c.(5269-5271)Cgt>Tgt	p.R1757C	AKD1_uc011eas.1_Missense_Mutation_p.R142C	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1757					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	p.R156C(1)|p.R1757C(1)		endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ATATATATACGATTATGATAT	0.299000														12			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228367	21228367	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:21228367G>A	uc002red.3	-	25	11501	c.11373C>T	c.(11371-11373)ttC>ttT	p.F3791F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3791					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3791F(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAACTTCAGGGAATTTTACCT	0.403000														112			69		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206614461	206614461	+	Missense_Mutation	SNP	C	T	T	rs140796876	byFrequency	TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:206614461C>T	uc002vaw.3	+	10	2590	c.1799C>T	c.(1798-1800)aCg>aTg	p.T600M	NRP2_uc002vau.3_Missense_Mutation_p.T600M|NRP2_uc002vav.3_Missense_Mutation_p.T600M|NRP2_uc002vax.3_Missense_Mutation_p.T600M|NRP2_uc002vay.3_Missense_Mutation_p.T600M	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	600					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T600A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCAAGCCCACGGTAGAGACG	0.547000														72			3		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196560	8196560	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:8196560C>T	uc001qtu.3	+	4	1576	c.491C>T	c.(490-492)tCa>tTa	p.S164L	FOXJ2_uc001qtt.1_Missense_Mutation_p.S164L	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	164					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCAAGACTCACCAGAACAG	0.542000														79			44		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20870068	20870068	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:20870068T>G	uc010sii.2	+	7	1034	c.679T>G	c.(679-681)Tgt>Ggt	p.C227G	SLCO1C1_uc010sij.2_Missense_Mutation_p.C178G|SLCO1C1_uc009zip.3_Missense_Mutation_p.C61G|SLCO1C1_uc001rei.3_Missense_Mutation_p.C227G|SLCO1C1_uc010sik.2_Missense_Mutation_p.C109G	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	227					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TGGTGCAGGGTGTGTGCAGAC	0.343000														32			12		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220476375	220476375	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:220476375C>T	uc002vml.3	+	17	2230	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	729					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTTCTCCTCGCTGTGTCTC	0.622000														133			71		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581996	118581996	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:118581996C>T	uc001ehk.2	-	22	3306	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1080						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACAATTTCCTTAGGGTCA	0.383000														27			9		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703091	88703091	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:88703091C>T	uc001kea.3	-	5	1577	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	MMRN2_uc010qmn.2_Missense_Mutation_p.D127N|MMRN2_uc009xtb.2_Missense_Mutation_p.D441N	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	484						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TTGATGAGGTCGGCATGGCCA	0.597000														14			36		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003456	57003456	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:57003456C>T	uc001njo.3	-	0	1472	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	341						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCTGACTTCTCCCCACTGC	0.637000														43			29		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73453542	73453542	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:73453542T>C	uc003dpl.1	-	3	1019	c.923A>G	c.(922-924)aAc>aGc	p.N308S	PDZRN3_uc011bgh.1_5'UTR|PDZRN3_uc010hoe.1_Missense_Mutation_p.N6S|PDZRN3_uc011bgf.1_Missense_Mutation_p.N25S|PDZRN3_uc011bgg.1_Missense_Mutation_p.N28S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	308	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCTCTGCCGTTGACCTGTGG	0.458000														44			24		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206647678	206647678	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:206647678C>T	uc001hdz.2	+	3	670	c.92C>T	c.(91-93)tCc>tTc	p.S31F	IKBKE_uc009xbu.2_Missense_Mutation_p.S31F|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Missense_Mutation_p.S31F	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	31	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGGCAGAAATCCGGAGAGCTG	0.602000														69			40		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123282714	123282714	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:123282714C>T	uc001udc.3	+	7	1106	c.944C>T	c.(943-945)tCa>tTa	p.S315L	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.S76L|CCDC62_uc021rfn.1_Missense_Mutation_p.S130L	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	315						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ATGTATGACTCAAAGATGGAG	0.343000														10			10		0	0	1	0	0
ABCA17P	650655	broad.mit.edu	37	16	2474681	2474681	+	RNA	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:2474681G>A	uc002cqc.1	+	14		c.2850G>A								Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene (ABCA17P), non-coding RNA.																		GTTCAGCAGTGGCTACTCCCT	0.642000														14			12		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321459	56321459	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:56321459C>T	uc010ygf.2	-	4	1228	c.517G>A	c.(517-519)Ggt>Agt	p.G173S	NLRP11_uc002qlz.3_Missense_Mutation_p.G74S|NLRP11_uc002qmb.3_Missense_Mutation_p.G74S|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	173	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACATCTCACCCTTGATCCAC	0.453000														22			15		0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194250	24194250	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:24194250C>T	uc010exy.3	+	3	614	c.146C>T	c.(145-147)tCc>tTc	p.S49F	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Missense_Mutation_p.S49F|UBXN2A_uc010ykj.2_Missense_Mutation_p.S49F	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	49										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AAGGTTAGTTCCAAATGTGTG	0.348000														73			44		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130659495	130659495	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr3:130659495C>T	uc011bli.2	+	5	780	c.484C>T	c.(484-486)Ctt>Ttt	p.L162F	ATP2C1_uc011blg.2_Missense_Mutation_p.L162F|ATP2C1_uc011blh.2_Missense_Mutation_p.L123F|ATP2C1_uc003enk.3_Missense_Mutation_p.L112F|ATP2C1_uc003enl.3_Missense_Mutation_p.L128F|ATP2C1_uc003enm.3_Missense_Mutation_p.L128F|ATP2C1_uc003enn.3_Missense_Mutation_p.L112F|ATP2C1_uc003eno.3_Missense_Mutation_p.L128F|ATP2C1_uc003enp.3_Missense_Mutation_p.L128F|ATP2C1_uc003ent.3_Missense_Mutation_p.L128F|ATP2C1_uc003ens.3_Missense_Mutation_p.L128F	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	128					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGAAAAATCTCTTGAAGAATT	0.303000									Hailey-Hailey disease					23			9		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151128345	151128345	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:151128345C>T	uc004ffi.3	-	5	804	c.750G>A	c.(748-750)gtG>gtA	p.V250V	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	250					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTGCTCACTCCTGTAA	0.453000														57			27		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067483	103067483	+	Splice_Site	SNP	T	C	C			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:103067483T>C	uc002tbx.3	+	11	1868	c.1384_splice	c.e11+2	p.V462_splice	IL18RAP_uc010fiz.3_Splice_Site_p.V320_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	462	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGGAGGAGGTAAGTCCAACA	0.408000														30			16		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286216	113286216	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:113286216C>T	uc001pnz.3	-	3	971	c.650G>A	c.(649-651)cGc>cAc	p.R217H	DRD2_uc010rwv.2_Missense_Mutation_p.R216H|DRD2_uc001poa.4_Missense_Mutation_p.R217H|DRD2_uc001pob.4_Missense_Mutation_p.R217H|DRD2_uc009yyr.1_Missense_Mutation_p.R217H	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	217	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCGGCGTCTGCGGAGGACAAT	0.572000														101			52		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132318	153132318	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:153132318C>T	uc004fjb.3	-	17	2325	c.2217G>A	c.(2215-2217)cgG>cgA	p.R739R	L1CAM_uc004fjc.3_Silent_p.R739R|L1CAM_uc010nuo.3_Silent_p.R734R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	739	Fibronectin type-III 2.		R -> W.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCATCCACCGGAGCGGCT	0.647000														22			19		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6971869	6971869	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:6971869C>A	uc002knm.3	-	47	6980	c.6886G>T	c.(6886-6888)Ggg>Tgg	p.G2296W	LAMA1_uc010wzj.2_Missense_Mutation_p.G1772W	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2296	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGAAGCACCCACGGCACTTG	0.433000														36			37		6.4771e-29	6.85625e-29	1	1	0
CDR2	1039	broad.mit.edu	37	16	22358417	22358417	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:22358417G>A	uc002dkn.3	-	4	1542	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	412						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GAACTCACGGGCTCTGGGTTG	0.522000														46			3		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902873	16902873	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:16902873G>A	uc009vos.1	-	18	2896	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Nonsense_Mutation_p.Q128*|NBPF1_uc010oce.1_Nonsense_Mutation_p.Q399*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	670						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGGAGGGCCTGGAGATGCTGA	0.547000														596			18		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376067	43376067	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:43376067G>A	uc002ovd.1	-	2	699	c.561C>T	c.(559-561)ctC>ctT	p.L187L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L187L|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Silent_p.L187L|PSG3_uc002ovb.3_Silent_p.L187L	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	187	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAGTCATAGGGAGGCTCTGAC	0.502000														221			105		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13733493	13733493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:13733493C>T	uc001mld.3	+	6	942	c.787C>T	c.(787-789)Cga>Tga	p.R263*	FAR1_uc009ygp.3_Nonsense_Mutation_p.R263*	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	263					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	p.L262F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGGAATTCTTCGAACAATACG	0.368000														26			16		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53444004	53444004	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:53444004C>T	uc001cur.2	+	8	958	c.790C>T	c.(790-792)Cca>Tca	p.P264S	SCP2_uc010ono.2_Missense_Mutation_p.P183S|SCP2_uc010onp.2_Missense_Mutation_p.P240S|SCP2_uc009vzi.2_Missense_Mutation_p.P220S|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.P220S	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	264					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GACTGATTTGCCAAGCTCGTT	0.363000														38			17		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47788478	47788478	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:47788478G>A	uc002lee.2	-	1	272	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	61										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCTTTCAAGCGATCCCGCTCA	0.468000														100			51		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27133557	27133557	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:27133557G>A	uc010sjl.2	-	7	1216	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	326	Phe-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATCCCATGATGATAAAGCCTA	0.338000														32			19		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023861	76023861	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr6:76023861C>T	uc010kbe.3	-	5	2226	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	FILIP1_uc003phy.1_Missense_Mutation_p.E563K|FILIP1_uc003phz.3_Missense_Mutation_p.E464K|FILIP1_uc003pia.3_Missense_Mutation_p.E563K|FILIP1_uc003pib.1_Missense_Mutation_p.E315K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	563								p.V565L(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TATACTTTTTCCTCCATTTCA	0.299000														8			8		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402494	90402494	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr6:90402494G>A	uc003pnn.1	-	62	10371	c.10255C>T	c.(10255-10257)Cac>Tac	p.H3419Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3419					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTGAGGTGTGGAGCTCAGAG	0.587000														25			33		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680996	73680996	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:73680996C>T	uc002sje.1	+	7	7450	c.7339C>T	c.(7339-7341)Cca>Tca	p.P2447S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2405S|ALMS1_uc002sjg.3_Missense_Mutation_p.P1835S|ALMS1_uc002sjh.1_Missense_Mutation_p.P1835S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2447					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAACTTCTTTCCATATGTTTC	0.448000														32			18		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32192640	32192640	+	RNA	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:32192640G>A	uc010vfv.1	-	4		c.706C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TGGTCCTGCAGGGGCATGCTT	0.572000														46			7		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995765	8995765	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr12:8995765G>A	uc001quz.4	+	11	1382	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	A2ML1_uc001qva.1_Silent_p.P8P|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	272						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TATATAATCCGGAACAAGTGC	0.488000														83			44		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956439	54956439	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:54956439C>T	uc004dtq.3	+	11	3389	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.I625I|TRO_uc004dtw.3_Silent_p.I697I|TRO_uc004dtx.3_Silent_p.I477I	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1094	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGCACCAATCACCAACCCTG	0.577000														52			30		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61950700	61950700	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr17:61950700C>T	uc002jch.3	-	2	126	c.11_splice	c.e2-1	p.G4_splice	CSH2_uc002jci.3_Splice_Site_p.G4_splice|CSH2_uc002jcg.3_Splice_Site_p.G4_splice	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	4					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GTCCGGGAGCCTGGGGAGAAA	0.602000														29			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600503	179600503	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:179600503G>A	uc021vsy.1	-	46	11163	c.10938C>T	c.(10936-10938)ttC>ttT	p.F3646F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F307F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4573	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTTTAATGAAATGTGGCT	0.413000														22			9		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433488	55433488	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:55433488C>T	uc010rik.2	+	0	846	c.846C>T	c.(844-846)ccC>ccT	p.P282P		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTTAAATCCCTTGATCTATA	0.458000														49			31		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20435364	20435364	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:20435364C>T	uc002dhe.3	+	5	1041	c.894C>T	c.(892-894)ccC>ccT	p.P298P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	298					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGCTGCCCCGAGTTGATG	0.463000														67			18		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28539833	28539833	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr6:28539833T>C	uc003nlo.3	-	3	4451	c.3833A>G	c.(3832-3834)gAg>gGg	p.E1278G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1278					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaatccggtctcacagaggta	0.358000														41			25		0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117527200	117527200	+	Silent	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:117527200G>A	uc004eqn.3	+	3	1223	c.792G>A	c.(790-792)ttG>ttA	p.L264L	WDR44_uc004eqo.3_Silent_p.L264L|WDR44_uc011mtr.2_Silent_p.L239L|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	264						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGCGAATTGGAATTTGAGA	0.493000														142			75		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3458476	3458476	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:3458476C>T	uc002cvc.3	+	2	1596	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	261					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S260L(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TCGGTTGTCACGGAGGCAGGT	0.522000														65			36		0	0	1	0	0
SUMO1P1	391257	broad.mit.edu	37	20	52491925	52491925	+	RNA	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr20:52491925G>A	uc010gik.3	-	0		c.324C>T								Homo sapiens SUMO1 pseudogene 1 (SUMO1P1), non-coding RNA.											kidney(1)	1						GAATTCACTGGAACGCCCTGT	0.418000														12			12		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323520	31323520	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr18:31323520C>T	uc010dmg.1	+	11	3763	c.3708C>T	c.(3706-3708)gtC>gtT	p.V1236V	ASXL3_uc002kxq.2_Silent_p.V943V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1236	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAATTCTGTCCCTGTATCTG	0.378000														54			21		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					53			25		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11470319	11470319	+	Silent	SNP	G	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:11470319G>T	uc001mjo.2	-	1	821	c.400C>A	c.(400-402)Cgg>Agg	p.R134R		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	134						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGCAGGGGCCGGTCCAGGGGC	0.667000														38			8		6.40141e-05	6.58344e-05	1	1	0
MMP26	56547	broad.mit.edu	37	11	5013332	5013332	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr11:5013332T>G	uc001lzv.3	+	4	752	c.734T>G	c.(733-735)aTc>aGc	p.I245S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	245					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGATGATATCCAAAGGATC	0.453000														38			13		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807533	41807533	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:41807533C>G	uc002oqb.4	+	10	1900	c.1611C>G	c.(1609-1611)gaC>gaG	p.D537E	HNRNPUL1_uc002opz.4_Missense_Mutation_p.D437E|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.D437E|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.D537E|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.D423E|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.D437E|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.D437E|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.D437E|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.D393E|HNRNPUL1_uc002oqf.4_5'Flank	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	537	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGACGAGGACCTAAAAGACC	0.463000														60			34		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849057	26849057	+	Silent	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr10:26849057C>T	uc001iss.3	+	11	1500	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	393	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAGGAGTCCCAGTATATCA	0.453000														81			45		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479985	73479985	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:73479985C>T	uc003xzb.3	+	1	604	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	6					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P6P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAAAGGCTCCCCCGGGCTT	0.502000														66			138		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59940626	59940626	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr5:59940626G>A	uc003jsh.3	-	4	728	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	DEPDC1B_uc011cqm.2_Missense_Mutation_p.H219Y|DEPDC1B_uc011cqn.2_Missense_Mutation_p.H192Y	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	219	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TATACATTATGGATGATGAAC	0.294000														10			14		0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075168	226075168	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:226075168G>A	uc001hpo.3	-	2	748	c.668C>T	c.(667-669)tCg>tTg	p.S223L	PYCR2_uc010pvj.2_Silent_p.L331L	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	223					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CGCCCCCTGCGAGGCAAAGCG	0.701000														39			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183103	140183103	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr5:140183103C>T	uc003lhf.2	+	0	2321	c.2321C>T	c.(2320-2322)cCt>cTt	p.P774L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P774L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	752					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTAGCCCTAGCCTTCCT	0.527000														44			56		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561550	232561550	+	Missense_Mutation	SNP	G	A	A	rs150962063		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:232561550G>A	uc001hvg.3	-	15	4573	c.4415C>T	c.(4414-4416)tCg>tTg	p.S1472L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S546L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1472					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S1472L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCATAGAACGAAAACTAGGG	0.507000														35			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403940	179403940	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr2:179403940C>T	uc021vsy.1	-	301	91243	c.91018G>A	c.(91018-91020)Gat>Aat	p.D30340N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D24035N|TTN_uc021vta.1_Missense_Mutation_p.D23968N|TTN_uc021vtb.1_Missense_Mutation_p.D23843N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31267	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D23968N(1)|p.D30338N(1)|p.D23843N(1)|p.D24035N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTACATCGAGTACTTCT	0.443000														23			20		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482253	140482253	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr5:140482253C>T	uc003lio.3	+	0	2020	c.2020C>T	c.(2020-2022)Ccg>Tcg	p.P674S	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	674					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCTCTCCCGGAGGCGGC	0.672000														47			106		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729974	48729975	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr15:48729974_48729975CC>TT	uc001zwx.2	-	50	6698_6699	c.6303_6304GG>AA	c.(6301-6306)acggaa>acAAaa	p.E2102K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2102	TB 8.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCATCAGGTTCCGTGGGGCAGA	0.520000														43			22		0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14522376	14522376	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:14522376A>T	uc002myo.3	-	3	489	c.371T>A	c.(370-372)cTg>cAg	p.L124Q	DDX39A_uc010xnp.2_Missense_Mutation_p.L124Q|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.L124Q	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	124	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTGGAAGGCCAGCTCCCTCGT	0.572000														50			29		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955085	141955085	+	Missense_Mutation	SNP	C	T	T	rs147205406		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr7:141955085C>T	uc003vxb.3	-	2	546	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PRSS58_uc003vxc.4_Missense_Mutation_p.E76K	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGCTTTTCATTAGAGTCT	0.408000														54			40		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073037	17073037	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr22:17073037G>A	uc002zlp.1	-	0	664	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	135					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGTGGCGTAGGCCTCCCGGAG	0.657000														14			41		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70512851	70512851	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr14:70512851G>A	uc001xly.3	-	7	3351	c.2597C>T	c.(2596-2598)aCc>aTc	p.T866I	SLC8A3_uc001xlv.3_Missense_Mutation_p.T237I|SLC8A3_uc001xlu.3_Missense_Mutation_p.T223I|SLC8A3_uc001xlw.3_Missense_Mutation_p.T863I|SLC8A3_uc001xlx.3_Missense_Mutation_p.T864I|SLC8A3_uc001xlz.3_Missense_Mutation_p.T860I|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_3'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	866					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGAAGAGGGTGACGGAGAA	0.647000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			25		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820703	35820703	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chrX:35820703G>A	uc010ngt.1	+	1	669	c.390G>A	c.(388-390)atG>atA	p.M130I	MAGEB16_uc022bus.1_Missense_Mutation_p.M130I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	130	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGTCAGATGAAAAAGCCAA	0.458000														36			24		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436410	56436411	+	Missense_Mutation	DNP	GT	TG	TG			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr8:56436410_56436411GT>TG	uc003xsf.3	+	2	1609_1610	c.1577_1578GT>TG	c.(1576-1578)tgt>tTG	p.C526L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	526						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCACCAAGTTGTGCTTGTGAGG	0.535000														152			34		0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47258849	47258849	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr19:47258849C>T	uc002pfn.2	+	3	439	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	FKRP_uc002pfp.2_Missense_Mutation_p.R48C|FKRP_uc021uwj.1_Missense_Mutation_p.R48C	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	48						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGCCGGCCCCCGTGTCACCGT	0.662000														7			5		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027298	154027298	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:154027298G>A	uc001fdw.3	-	23	3323	c.3251C>T	c.(3250-3252)cCa>cTa	p.P1084L	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.P1084L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1084						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AAGTCTGAATGGAGGAAACAC	0.323000														28			19		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	-	-	rs71929261		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr1:240255569_240255571delGGC	uc010pye.2	+	0	385_387	c.160_162delGGC	c.(160-162)ggcdel	p.G59del	FMN2_uc010pyd.2_In_Frame_Del_p.G59del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													---	19	---	---	11	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	-	-			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr4:134073569_134073571delCTG	uc003iha.3	+	0	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del	PCDH10_uc003igz.3_In_Frame_Del_p.C763del	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	763	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													---	90	---	---	11	---					
PLEKHG3	26030	broad.mit.edu	37	14	65204696	65204698	+	In_Frame_Del	DEL	GGA	-	-	rs78348535		TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr14:65204696_65204698delGGA	uc001xhp.2	+	13	1560_1562	c.1521_1523delGGA	c.(1519-1524)gtggag>gtg	p.E517del	PLEKHG3_uc001xhn.1_Intron|PLEKHG3_uc001xho.1_Intron|PLEKHG3_uc010aqh.1_Intron|PLEKHG3_uc001xhq.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	536					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		aggaggtggtggaggaggaggag	0.650													---	4	---	---	2	---					
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A3DJ-01A-11D-A20D-08	TCGA-BF-A3DJ-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4e207fb-76b8-4330-baa4-7658431d42dd	517609a6-e93b-45ef-95c4-b8684db50350	g.chr16:85682290delC	uc002fix.3	+	2	433	c.359delC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Del_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GTGCCCAGCACCCCCCCCGTG	0.687													---	204	---	---	8	---