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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SMAD3	4088	broad.mit.edu	37	15	67473652	67473652	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr15:67473652C>T	uc002aqj.3	+	5	1030	c.732C>T	c.(730-732)gtC>gtT	p.V244V	SMAD3_uc010ujr.2_Silent_p.V139V|SMAD3_uc010ujs.2_Silent_p.V200V|SMAD3_uc010ujt.2_Silent_p.V49V	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	244	MH2.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.R243C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCAGCGCGTCGGGGAGACAT	0.607000													3	71					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981793	64981793	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr16:64981793A>G	uc002eoi.3	-	12	2538	c.2104T>C	c.(2104-2106)Tac>Cac	p.Y702H	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Missense_Mutation_p.Y576H	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	702					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y702H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTAGGCATGTACTGATACTCA	0.522000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			100	91					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283710	40283710	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:40283710A>C	uc003ayg.3	-	1	294	c.43T>G	c.(43-45)Tca>Gca	p.S15A		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	15	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TCAGCATCTGAGTAATTTTTC	0.388000													7	13					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850108	38850108	+	Splice_Site	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:38850108A>T	uc002oih.4	+	14	1584	c.1497_splice	c.e14-2	p.S499_splice	CATSPERG_uc002oig.4_Splice_Site_p.S459_splice|CATSPERG_uc002oif.4_Splice_Site_p.S139_splice|CATSPERG_uc010efw.3_Splice_Site	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	499					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGTCCCTGCAGCTCTAACAA	0.527000													27	28					0	0	1	0	0
ATPAF1-AS1	374973	broad.mit.edu	37	1	47139103	47139103	+	Missense_Mutation	SNP	C	C	T	rs1025806	by1000genomes	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:47139103C>T	uc001cqj.3	+	1	706	c.596C>T	c.(595-597)gCc>gTc	p.A199V	KIAA0494_uc010omh.1_Intron|ATPAF1-AS1_uc010omi.2_Missense_Mutation_p.A123V|LOC100130197_uc021ond.1_5'Flank|LOC100130197_uc021one.1_5'Flank	NM_001145474	NP_001138946	Q6PEX7	ATAS1_HUMAN	Homo sapiens ATPAF1 antisense RNA 1 (non-protein coding) (ATPAF1-AS1), mRNA.	199			A -> V (in dbSNP:rs1025806).			integral to membrane				endometrium(3)	3						AGCTTCAATGCCAAGCCTTTT	0.507000													3	47					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													3	54					0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89352944	89352944	+	Splice_Site	SNP	C	C	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:89352944C>G	uc001dmo.4	-	2	243	c.124_splice	c.e2+1	p.G42_splice	GTF2B_uc009wcw.1_Splice_Site	NM_001514	NP_001505	Q00403	TF2B_HUMAN	Homo sapiens general transcription factor IIB (GTF2B), mRNA.	42					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AACAACTCACCTACAACCAAG	0.473000													26	31					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148695764	148695764	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:148695764T>A	uc002twj.3	-	12	1243	c.1073A>T	c.(1072-1074)cAa>cTa	p.Q358L	ORC4_uc021vqr.1_Missense_Mutation_p.Q358L|ORC4_uc002twi.3_Missense_Mutation_p.Q358L|ORC4_uc010zbo.2_Missense_Mutation_p.Q284L|ORC4_uc010zbq.2_Missense_Mutation_p.Q274L|ORC4_uc010zbp.2_Missense_Mutation_p.Q141L|ORC4_uc002twk.3_Missense_Mutation_p.Q358L|ORC4_uc002twl.1_5'Flank	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	358					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TGCTTTCCTTTGAACAAACTT	0.328000													5	115					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175331330	175331330	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:175331330A>G	uc002uit.3	-	6	1599	c.1208T>C	c.(1207-1209)tTg>tCg	p.L403S	GPR155_uc002uiu.3_Missense_Mutation_p.L403S|GPR155_uc002uiv.3_Missense_Mutation_p.L403S|GPR155_uc010fqs.3_Intron	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	403					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTTCTTACTCAAAAGAAGAAT	0.274000													33	68					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48676773	48676773	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:48676773A>G	uc011mmi.1	+	21	2236	c.2141A>G	c.(2140-2142)gAc>gGc	p.D714G	HDAC6_uc004dks.1_Missense_Mutation_p.D714G|HDAC6_uc010nig.1_Missense_Mutation_p.D562G|HDAC6_uc004dkt.1_Missense_Mutation_p.D714G|HDAC6_uc011mmk.1_Missense_Mutation_p.D695G|HDAC6_uc004dkv.1_Missense_Mutation_p.D362G|HDAC6_uc004dkw.1_Missense_Mutation_p.D362G|HDAC6_uc004dkx.1_5'Flank	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	714	Histone deacetylase 2.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGTGATGCTGACTACCTAGCT	0.637000													58	9					0	0	1	0	0
PHF15	23338	broad.mit.edu	37	5	133895661	133895661	+	Missense_Mutation	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:133895661C>A	uc003kzk.2	+	4	539	c.501C>A	c.(499-501)aaC>aaA	p.N167K	PHF15_uc011cxt.1_Missense_Mutation_p.N151K|PHF15_uc003kzl.2_Missense_Mutation_p.N151K|PHF15_uc003kzm.2_Missense_Mutation_p.N151K|PHF15_uc003kzn.2_Missense_Mutation_p.N151K|PHF15_uc003kzo.1_Missense_Mutation_p.N151K	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	151					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTCATCAACTCGGAGCTTA	0.592000													42	56					1.46156e-29	1.64617e-29	1	1	0
TMEM232	642987	broad.mit.edu	37	5	109904274	109904274	+	Missense_Mutation	SNP	T	T	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:109904274T>G	uc011cvh.2	-	10	1464	c.1329A>C	c.(1327-1329)aaA>aaC	p.K443N	TMEM232_uc003kow.1_Missense_Mutation_p.K249N|TMEM232_uc003kox.3_Non-coding_Transcript|TMEM232_uc003koy.4_Missense_Mutation_p.K177N	NM_001039763	NP_001034852	C9JQI7	TM232_HUMAN	Homo sapiens transmembrane protein 232 (TMEM232), mRNA.	443						integral to membrane				breast(1)|kidney(2)	3						CCCATGAAATTTTCACCAGGT	0.363000													27	31					0	0	1	0	0
ANAPC10	10393	broad.mit.edu	37	4	145916549	145916549	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr4:145916549G>T	uc003iju.4	-	5	689	c.534C>A	c.(532-534)ttC>ttA	p.F178L	ANAPC10_uc003ijv.4_Missense_Mutation_p.F178L|ANAPC10_uc003ijw.4_Missense_Mutation_p.F178L	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	Homo sapiens anaphase promoting complex subunit 10 (ANAPC10), mRNA.	178	DOC.				G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GATACATCATGAAATCTATAG	0.303000													19	17					3.01185e-09	3.19077e-09	1	1	0
ZNF181	339318	broad.mit.edu	37	19	35231657	35231657	+	Missense_Mutation	SNP	T	T	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:35231657T>C	uc002nvu.3	+	3	834	c.371T>C	c.(370-372)aTa>aCa	p.I124T	ZNF181_uc010xsb.1_Missense_Mutation_p.I123T|ZNF181_uc010xsc.1_Missense_Mutation_p.I59T	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGGAATATATAGAGAAGTTG	0.348000													23	55					0	0	1	0	0
PTPRQ	374462	broad.mit.edu	37	12	80936026	80936026	+	Missense_Mutation	SNP	A	A	G	rs17713202	byFrequency	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr12:80936026A>G	uc001sze.2	+	18	3088	c.3088A>G	c.(3088-3090)Aat>Gat	p.N1030D		NM_001145026	NP_001138498			Homo sapiens protein tyrosine phosphatase, receptor type, Q (PTPRQ), mRNA.											breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TACTTCTGATAATTACATAAT	0.328000													3	84					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115964520	115964520	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr10:115964520G>A	uc001lbg.1	+	9	1318	c.1165G>A	c.(1165-1167)Ggg>Agg	p.G389R	TDRD1_uc001lbf.3_Missense_Mutation_p.G380R|TDRD1_uc001lbh.1_Missense_Mutation_p.G380R|TDRD1_uc001lbi.1_Missense_Mutation_p.G380R|TDRD1_uc010qsc.2_Missense_Mutation_p.G50R|TDRD1_uc001lbj.3_Missense_Mutation_p.G98R	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	389					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCCAGCAGAAGGGAATTGGAG	0.363000													29	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281309	90281309	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:90281309C>T	uc003kju.3	+	84	18218	c.18122C>T	c.(18121-18123)tCa>tTa	p.S6041L	GPR98_uc003kjt.3_Missense_Mutation_p.S3747L|GPR98_uc003kjw.3_Missense_Mutation_p.S1702L|GPR98_uc003kjx.3_Missense_Mutation_p.S69L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6041					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S6041P(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGCATGTCACAGATCTAT	0.433000													41	79					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97634560	97634560	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:97634560C>T	uc003ppb.3	-	14	2312	c.2046G>A	c.(2044-2046)atG>atA	p.M682I	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.M642I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	682					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTGTTGATGCATACTCCTAA	0.353000													36	67					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1041554	1041554	+	Missense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:1041554A>T	uc002lqw.4	+	2	343	c.112A>T	c.(112-114)Atc>Ttc	p.I38F	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.I38F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	38					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTTCTTCATCCTGGTGGC	0.637000													7	12					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658354	33658354	+	Silent	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:33658354A>G	uc003jia.1	-	6	1288	c.1125T>C	c.(1123-1125)agT>agC	p.S375S	ADAMTS12_uc010iuq.1_Silent_p.S375S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	375	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R374S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGATGTTACAACTGCGGTGAG	0.507000										HNSCC(64;0.19)			7	115					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808646	144808646	+	Silent	SNP	T	T	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr8:144808646T>C	uc003yzk.3	-	4	3054	c.2985A>G	c.(2983-2985)caA>caG	p.Q995Q		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	995					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTCTCGGGTTGGCCGTTCT	0.697000													3	80					0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9453702	9453702	+	RNA	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr12:9453702C>T	uc001qvp.2	+	0		c.13C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.P370S(2)									GGTGGTGCTGCCCTATCAGAT	0.662000													5	33					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67817430	67817430	+	Splice_Site	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:67817430A>G	uc001one.3	+	17	2143	c.2014_splice	c.e17-1	p.E672_splice	TCIRG1_uc001ong.3_Splice_Site_p.E456_splice|TCIRG1_uc009ysd.3_Splice_Site	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	672					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ATGCCCCAGGAGGAAAACAAG	0.637000													32	29					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640932	142640932	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:142640932G>T	uc003wcb.3	-	13	1740	c.1530C>A	c.(1528-1530)agC>agA	p.S510R		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	510					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACCGGACACAGCTCAGGACAG	0.557000													6	150					5.18039e-06	5.43433e-06	1	1	0
C1orf146	388649	broad.mit.edu	37	1	92707844	92707844	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:92707844A>C	uc001doq.3	+	2	214	c.142A>C	c.(142-144)Att>Ctt	p.I48L	C1orf146_uc010ote.2_Intron	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.	48										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		AAATGGATCAATTATATTTTC	0.308000													7	7					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102675796	102675796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr10:102675796C>T	uc001krs.3	+	1	723	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	FAM178A_uc001krr.1_Nonsense_Mutation_p.Q61*|FAM178A_uc001krt.4_Nonsense_Mutation_p.Q61*|FAM178A_uc001kru.1_5'Flank	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	61																	AGCTTCAAAACAAGGTATGTA	0.333000													13	26					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20535255	20535255	+	Silent	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr4:20535255T>A	uc003gpr.1	+	17	1953	c.1749T>A	c.(1747-1749)ggT>ggA	p.G583G	SLIT2_uc003gps.1_Silent_p.G575G	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	583					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGCATCTGGTGTAAATGAAA	0.328000													51	165					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176943307	176943307	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:176943307G>C	uc003mho.3	-	2	301	c.280C>G	c.(280-282)Ctt>Gtt	p.L94V	DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	94					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTCTCTTTAAGGTGCTGGTGC	0.582000													29	38					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105563684	105563684	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:105563684G>A	uc003pqw.3	-	6	992	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	BVES_uc003pqx.3_Missense_Mutation_p.H279Y|BVES_uc003pqy.3_Missense_Mutation_p.H279Y	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	279					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGAGCTGATGTTCCAGCTTT	0.443000													30	53					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97595925	97595925	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr3:97595925A>T	uc003drx.3	+	0	107	c.43A>T	c.(43-45)Aaa>Taa	p.K15*	CRYBG3_uc021xbn.1_Nonsense_Mutation_p.K15*					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAGACTAGACAAAAGAATGTC	0.393000													117	85					0	0	1	0	0
BC032901	0	broad.mit.edu	37	16	74427	74427	+	RNA	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr16:74427A>G	uc002cfh.3	+	1		c.343A>G								Homo sapiens cDNA clone IMAGE:5261280.																		AGCAGGCACCACAGTCTAAGG	0.577000													3	62					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58796735	58796735	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr14:58796735A>C	uc001xdp.3	+	10	1008	c.754A>C	c.(754-756)Agc>Cgc	p.S252R	ARID4A_uc001xdo.3_Missense_Mutation_p.S252R|ARID4A_uc001xdq.3_Missense_Mutation_p.S252R|ARID4A_uc010apg.1_5'Flank	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	252					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGAAAGCAAGCATCTTCTT	0.388000													54	64					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:14262129A>C	uc010xnn.2	-	23	4277	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	LPHN1_uc010xno.2_Silent_p.G1322G|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						CCCGGTCAGCACCCCCGGGCC	0.716000													5	15					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24810216	24810216	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr4:24810216A>C	uc003grc.3	-	11	1484	c.1385T>G	c.(1384-1386)cTg>cGg	p.L462R	CCDC149_uc003grd.3_3'UTR|CCDC149_uc011bxr.2_Missense_Mutation_p.L462R|CCDC149_uc003gra.2_Missense_Mutation_p.L335R	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	462										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GACCTCTTCCAGTTCTGCAGC	0.527000													3	53					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49161312	49161312	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr3:49161312G>C	uc003cwe.3	-	23	3945	c.3646C>G	c.(3646-3648)Cag>Gag	p.Q1216E	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1216	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.A1215A(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCAACTCCTGCGCCCGCTGC	0.612000													48	19					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145311110	145311110	+	Missense_Mutation	SNP	G	G	C	rs141899955		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:145311110G>C	uc001emq.1	+	6	1005	c.832G>C	c.(832-834)Gtg>Ctg	p.V278L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021oul.1_Silent_p.R603R|NBPF10_uc010oyi.2_Silent_p.R142R|NBPF10_uc010oyj.2_5'Flank|NBPF10_uc010oyl.2_5'Flank|NBPF10_uc021oum.1_Silent_p.R142R|NBPF10_uc021oun.1_5'Flank|NBPF10_uc021ouo.1_5'Flank			A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	549										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACATCGGTGGGATCAAG	0.453000													3	6					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61566074	61566074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:61566074C>T	uc002jau.2	+	15	2405	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	ACE_uc010wpj.2_Nonsense_Mutation_p.R217*|ACE_uc010ddv.2_Nonsense_Mutation_p.R18*|ACE_uc002jav.2_Nonsense_Mutation_p.R217*|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Nonsense_Mutation_p.R101*	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	791	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGAGGGCTGGCGAGACAAGGC	0.562000													3	83					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38273745	38273745	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:38273745G>A	uc003auf.3	+	10	1220	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	EIF3L_uc011ann.2_Missense_Mutation_p.R333H|EIF3L_uc003aug.3_Missense_Mutation_p.R273H	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	381						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TACCCCATGCGTATTGATGAG	0.507000													63	98					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35189882	35189882	+	Silent	SNP	T	T	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr15:35189882T>G	uc001ziv.3	-	20	2449	c.2268A>C	c.(2266-2268)ggA>ggC	p.G756G		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	756						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTTCCCTTTTCCACTTCTTA	0.393000													24	31					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978023	45978023	+	Silent	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr21:45978023G>A	uc002zfj.1	-	0	621	c.576C>T	c.(574-576)gcC>gcT	p.A192A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	192	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ACACGCAGGAGGCCGGGCGGC	0.721000													6	114					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9583320	9583320	+	RNA	SNP	T	T	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr12:9583320T>C	uc021qut.1	-	0		c.17A>G			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		CAGCATCTGATAGGGCAGCAC	0.657000													7	86					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110170816	110170816	+	Missense_Mutation	SNP	C	C	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:110170816C>G	uc009wfh.1	+	10	1896	c.1354C>G	c.(1354-1356)Cgt>Ggt	p.R452G	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R371G|AMPD2_uc001dyc.1_Missense_Mutation_p.R452G|AMPD2_uc010ovr.1_Missense_Mutation_p.R377G|AMPD2_uc010ovs.1_Missense_Mutation_p.R334G|AMPD2_uc001dyd.1_Missense_Mutation_p.R333G|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	452					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAGCAGGGCCGTGAACAGAC	0.597000													40	48					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122665493	122665493	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr10:122665493T>A	uc021pzt.1	+	26	3643	c.3397T>A	c.(3397-3399)Tct>Act	p.S1133T	WDR11_uc010qte.2_Missense_Mutation_p.S735T|WDR11_uc001lfd.1_Missense_Mutation_p.S651T|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1133						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGTTCTCCTCTCTCTGGGCTG	0.512000													43	53					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107599767	107599767	+	Missense_Mutation	SNP	C	C	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:107599767C>G	uc003vev.2	-	17	2850	c.2689G>C	c.(2689-2691)Gcc>Ccc	p.A897P	LAMB1_uc003vew.2_Missense_Mutation_p.A873P	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	873	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.A873S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTCATCGGCGTGGCCATTG	0.557000													8	171					0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123637524	123637524	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:123637524G>T	uc010nqy.3	-	18	3395	c.3331C>A	c.(3331-3333)Cct>Act	p.P1111T	ODZ1_uc011muj.2_Missense_Mutation_p.P1110T|ODZ1_uc004euj.3_Missense_Mutation_p.P1111T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1111					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						ATAAAGTCAGGGCACGTTTCA	0.363000													89	14					3.79751e-50	4.36918e-50	1	1	0
TMEM99	147184	broad.mit.edu	37	17	38992526	38992526	+	Splice_Site	SNP	T	T	G	rs144713336	by1000genomes	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:38992526T>G	uc021txc.1	+	3	2057	c.1758_splice	c.e3+1		TMEM99_uc002hvj.1_Splice_Site|TMEM99_uc021txd.1_Splice_Site	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.							integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				tattggttttttgtgtgtgtg	0.423000													5	7					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561911	135561911	+	Silent	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:135561911T>A	uc003lbn.2	-	8	2295	c.2073A>T	c.(2071-2073)cgA>cgT	p.R691R	TRPC7_uc010jef.2_Silent_p.R627R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.R242R|TRPC7_uc010jeh.2_Silent_p.R630R|TRPC7_uc010jei.2_Silent_p.R575R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	691					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGTTTTGCTCGGGCGAACT	0.443000													37	37					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39966780	39966780	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:39966780G>C	uc002olo.4	+	28	3263	c.3084G>C	c.(3082-3084)gaG>gaC	p.E1028D	SUPT5H_uc002olp.4_Missense_Mutation_p.E1028D|SUPT5H_uc002olq.4_Missense_Mutation_p.E1024D|SUPT5H_uc002oln.4_Missense_Mutation_p.E1028D|SUPT5H_uc002olr.4_Missense_Mutation_p.E1028D	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	1028					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTCCAGTGAGCACCTGGAGC	0.577000													8	64					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455042	37455042	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:37455042T>A	uc002rpz.3	-	1	1324	c.1294A>T	c.(1294-1296)Aat>Tat	p.N432Y		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	432					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAGCTGATATTTGAGCGGAAG	0.363000													32	62					0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219222408	219222408	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:219222408C>T	uc002vhr.3	+	2	299	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	90										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGTGCATGCCTCTAGCCGAG	0.567000													31	29					0	0	1	0	0
CREG1	8804	broad.mit.edu	37	1	167515417	167515417	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:167515417T>A	uc001gel.3	-	2	658	c.580A>T	c.(580-582)Ata>Tta	p.I194L		NM_003851	NP_003842	O75629	CREG1_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA.	194					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										ATATTGGTTATATTCAACTTA	0.383000													36	43					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647798	53647798	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr12:53647798C>T	uc001sch.2	+	1	1647	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	MFSD5_uc001sci.2_Silent_p.L393L|MFSD5_uc021qye.1_Silent_p.L393L	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	393					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCCTAGGGCTCCTTGTCCTCC	0.542000													4	106					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48918785	48918785	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:48918785C>T	uc001crr.2	-	1	266	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	SPATA6_uc001crs.2_Missense_Mutation_p.V24M|SPATA6_uc010omv.2_Missense_Mutation_p.V24M	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	24					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTTTAAGCACGACTCCTGGG	0.373000													23	32					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280775	105280775	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:105280775A>G	uc010npd.3	-	0	510	c.275T>C	c.(274-276)aTt>aCt	p.I92T	SERPINA7_uc004eme.2_Missense_Mutation_p.I92T|SERPINA7_uc010npe.2_Missense_Mutation_p.I92T	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	92					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTCTCCACAATCTCAGTTTG	0.483000													5	31					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107605061	107605061	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:107605061G>C	uc003vev.2	-	11	1867	c.1706C>G	c.(1705-1707)cCt>cGt	p.P569R	LAMB1_uc003vew.2_Missense_Mutation_p.P545R|LAMB1_uc003vex.3_Missense_Mutation_p.P545R|LAMB1_uc010ljn.1_Missense_Mutation_p.P631R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	545	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAGTAACCAGGTTCCACTTC	0.567000													59	100					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399589	40399589	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:40399589G>T	uc003oph.1	-	1	1729	c.1264C>A	c.(1264-1266)Ccg>Acg	p.P422T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	422	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCGTTCCGGGGGGCTTTTG	0.642000													20	28					3.62473e-10	3.87846e-10	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89868775	89868775	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:89868775A>G	uc001pdf.4	+	1	240	c.131A>G	c.(130-132)cAt>cGt	p.H44R	NAALAD2_uc009yvx.3_Missense_Mutation_p.H44R|NAALAD2_uc009yvy.3_Missense_Mutation_p.H44R|NAALAD2_uc001pdd.2_Missense_Mutation_p.H44R|NAALAD2_uc001pde.3_Missense_Mutation_p.H44R	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	44					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGCGCTATCATCAAAGTATA	0.343000													6	31					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747898	148747898	+	Missense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:148747898A>T	uc003lqk.2	+	5	1228	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L	PCYOX1L_uc003lql.2_Missense_Mutation_p.Q372L|PCYOX1L_uc010jgz.2_Missense_Mutation_p.Q313L|PCYOX1L_uc003lqm.2_Missense_Mutation_p.Q271L|PCYOX1L_uc003lqn.2_Missense_Mutation_p.Q299L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	389					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGCCCCAGGAGGCAGCT	0.557000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	54					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085780	17085780	+	Silent	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:17085780G>A	uc010ock.2	-	7	1041	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCCGCACGTCGTCTGTACAAC	0.692000													9	125					0	0	1	0	0
C11orf10	746	broad.mit.edu	37	11	61557365	61557365	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:61557365G>A	uc001nsf.3	-	2	197	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	FEN1_uc001nsg.3_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	Homo sapiens chromosome 11 open reading frame 10 (C11orf10), mRNA.	48						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(1)	6						TAGATATCACGAGTGTACTTG	0.542000													4	83					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74738356	74738356	+	Splice_Site	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:74738356G>A	uc002jta.2	+	6	1410	c.437_splice	c.e6+1	p.S146_splice	MFSD11_uc002jtd.4_Splice_Site_p.S146_splice|MFSD11_uc002jtb.3_Splice_Site_p.S146_splice|MFSD11_uc002jtc.3_Splice_Site_p.S146_splice|MFSD11_uc002jte.3_Splice_Site_p.S146_splice|MFSD11_uc010dhb.3_Intron|MFSD11_uc010dha.3_Intron	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	146						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGCAGTCTAGGTAATTATCCT	0.403000													8	117					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104182695	104182695	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr12:104182695G>C	uc010swe.1	-	9	1063	c.1022C>G	c.(1021-1023)cCt>cGt	p.P341R		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	341							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTTTCGGAAAGGCCTAACAAC	0.423000													38	46					0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98988630	98988630	+	Silent	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:98988630A>G	uc003upz.3	+	5	735	c.615A>G	c.(613-615)gtA>gtG	p.V205V		NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	205					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCGGCTGGGTACATGGCGTCT	0.627000													46	37					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972839	203972839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:203972839G>A	uc002uzt.3	+	12	2123	c.1790G>A	c.(1789-1791)tGg>tAg	p.W597*		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	597							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCAGTGCTTGGTTTTGCTTA	0.408000													57	41					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102504840	102504840	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr14:102504840G>A	uc001yks.2	+	57	11116	c.10952G>A	c.(10951-10953)cGt>cAt	p.R3651H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3651	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.N3650I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGCTGAACCGTGAAGTGCGG	0.547000													3	56					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9501596	9501596	+	Silent	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:9501596C>A	uc010coc.3	+	5	841	c.612C>A	c.(610-612)atC>atA	p.I204I	WDR16_uc002gly.3_Silent_p.I194I|WDR16_uc002glz.3_Silent_p.I126I			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	194						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATAGAAAAATCTGGCCAACTG	0.328000													12	29					0.00185496	0.00190847	1	1	0
DIAPH1	1729	broad.mit.edu	37	5	140953451	140953451	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:140953451G>T	uc003llb.4	-	15	2107	c.1966C>A	c.(1966-1968)Cct>Act	p.P656T	DIAPH1_uc003llc.4_Missense_Mutation_p.P647T|DIAPH1_uc021yep.1_Missense_Mutation_p.P656T|DIAPH1_uc021yeq.1_Missense_Mutation_p.P647T|DIAPH1_uc010jgc.1_Missense_Mutation_p.P95T	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	656	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGCAAAGGAGGGGGTGGA	0.592000													17	19					7.87624e-14	8.51271e-14	1	1	0
PKP4	8502	broad.mit.edu	37	2	159459582	159459582	+	Splice_Site	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:159459582C>A	uc002tzv.3	+	4	506	c.246_splice	c.e4-1	p.S82_splice	PKP4_uc002tzt.1_Splice_Site|PKP4_uc002tzu.3_Splice_Site_p.S82_splice|PKP4_uc002tzw.3_Splice_Site_p.S82_splice|PKP4_uc002tzx.3_Splice_Site|PKP4_uc002tzy.1_Splice_Site|PKP4_uc002tzz.1_Splice_Site_p.S82_splice|PKP4_uc002uaa.3_Splice_Site	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	82					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTCTTTAGCTCAACTGAGA	0.259000										HNSCC(62;0.18)			19	58					8.04996e-18	8.87985e-18	1	1	0
FBXL13	222235	broad.mit.edu	37	7	102553614	102553614	+	Silent	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:102553614G>A	uc003vaq.2	-	10	1354	c.927C>T	c.(925-927)ttC>ttT	p.F309F	FBXL13_uc010liq.1_Silent_p.F124F|FBXL13_uc010lir.1_Silent_p.F309F|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.F309F|LRRC17_uc003vat.3_Intron|LRRC17_uc003vau.3_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	309										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTTTGTCTGTGAACCGTCTGC	0.443000													26	100					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087879	109087879	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:109087879T>A	uc002tec.3	+	5	2248	c.2094T>A	c.(2092-2094)agT>agA	p.S698R	GCC2_uc002ted.3_Missense_Mutation_p.S597R	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	698					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATAAACTCAGTTCAGAAAAAA	0.308000													28	88					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976298	67976298	+	Missense_Mutation	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr16:67976298C>A	uc002euy.1	-	4	727	c.716G>T	c.(715-717)gGc>gTc	p.G239V		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	239					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CTTGATGGAGCCACCCCAGGG	0.587000													8	186					2.17888e-05	2.26349e-05	1	1	0
SAP30BP	29115	broad.mit.edu	37	17	73702116	73702116	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:73702116G>C	uc002jpe.3	+	9	743	c.689G>C	c.(688-690)gGc>gCc	p.G230A	SAP30BP_uc010wsf.1_Non-coding_Transcript|SAP30BP_uc002jpf.3_Missense_Mutation_p.G214A|SAP30BP_uc021udb.1_Non-coding_Transcript	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	Homo sapiens SAP30 binding protein (SAP30BP), mRNA.	230	Thr-rich.				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCAAAAAAGGcaccacgacc	0.567000													16	31					0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167937680	167937680	+	Nonsense_Mutation	SNP	G	G	T	rs148161788		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:167937680G>T	uc003lzx.3	+	11	1482	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	RARS_uc011deo.2_Nonsense_Mutation_p.E275*	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	481					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding	p.E481K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAGGAAAAAGAAAGAGACAA	0.373000													36	50					1.00776e-21	1.12323e-21	1	1	0
HSPA9	3313	broad.mit.edu	37	5	137903216	137903216	+	Missense_Mutation	SNP	T	T	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:137903216T>C	uc003ldf.3	-	6	955	c.644A>G	c.(643-645)aAt>aGt	p.N215S	HSPA9_uc011cyw.2_Missense_Mutation_p.N146S	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	215					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGAAGCACATTCAGTCCAGA	0.423000													6	52					0	0	1	0	0
PPM1N	147699	broad.mit.edu	37	19	46002036	46002036	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:46002036C>T	uc002pce.3	+	0	306	c.306C>T	c.(304-306)ctC>ctT	p.L102L	RTN2_uc002pcb.3_5'Flank|RTN2_uc002pcc.3_5'Flank|RTN2_uc002pcd.3_5'Flank|PPM1N_uc002pcf.3_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.	102	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						TTGCCGTCCTCGACGGCCACG	0.701000													5	36					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768208	31768208	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:31768208C>T	uc002nsy.4	-	1	2556	c.2491G>A	c.(2491-2493)Gta>Ata	p.V831I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	831					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGAATGATACGACGGCAGAT	0.527000													65	97					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20768825	20768825	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr18:20768825C>T	uc002kuc.2	+	1	869	c.869C>T	c.(868-870)tCt>tTt	p.S290F	CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.S25F	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	290	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCCAGAGATCTTCCTTGGAG	0.433000													6	13					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89338717	89338717	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr14:89338717C>T	uc010ath.3	+	12	1450	c.1316C>T	c.(1315-1317)gCt>gTt	p.A439V	TTC8_uc001xxi.3_Missense_Mutation_p.A423V|TTC8_uc001xxj.3_Missense_Mutation_p.A413V|TTC8_uc001xxk.3_Missense_Mutation_p.A383V|TTC8_uc001xxl.3_Missense_Mutation_p.A184V|TTC8_uc010ati.3_Missense_Mutation_p.A225V|TTC8_uc010atj.3_Missense_Mutation_p.A158V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	449					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCAGGCTGGCTCTGGTCAAC	0.532000													41	50					0	0	1	0	0
CD24	100133941	broad.mit.edu	37	Y	21154569	21154569	+	Silent	SNP	A	A	G	rs17855271		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrY:21154569A>G	uc004ftz.1	-	0	137	c.27T>C	c.(25-27)ctT>ctC	p.L9L	TTTY14_uc004fty.3_Intron	NM_013230	NP_037362	P25063	CD24_HUMAN	Homo sapiens CD24 molecule (CD24), mRNA.	9					B cell receptor transport into membrane raft|T cell costimulation|Wnt receptor signaling pathway|axon guidance|cell activation|cell migration|cell-cell adhesion|chemokine receptor transport out of membrane raft|cholesterol homeostasis|elevation of cytosolic calcium ion concentration|induction of apoptosis by intracellular signals|negative regulation of transforming growth factor-beta3 production|positive regulation of MAP kinase activity|positive regulation of activated T cell proliferation|regulation of MAPKKK cascade|regulation of cytokine-mediated signaling pathway|regulation of epithelial cell differentiation|respiratory burst|response to estrogen stimulus|response to hypoxia|response to molecule of bacterial origin	anchored to membrane|cell surface|membrane raft|plasma membrane	protein kinase binding|protein tyrosine kinase activator activity|signal transducer activity										GCCCCAGCCCAAGCCTGGCCA	0.612000													16	4					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616295	13616295	+	Silent	SNP	C	C	T	rs144592389	byFrequency	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr4:13616295C>T	uc003gmz.1	-	3	816	c.699G>A	c.(697-699)gcG>gcA	p.A233A	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	233							DNA binding										GTTTTTTTGACGCTCTCTCAC	0.423000													4	47					0	0	1	0	0
ZNF697	90874	broad.mit.edu	37	1	120165395	120165395	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:120165395G>A	uc001ehy.1	-	2	1685	c.1571C>T	c.(1570-1572)gCg>gTg	p.A524V		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCCGCAGCCCGCACACTTGTG	0.637000													29	40					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31342655	31342655	+	Missense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr15:31342655A>T	uc021sia.1	-	10	1759	c.1445T>A	c.(1444-1446)gTg>gAg	p.V482E	TRPM1_uc010azy.3_Missense_Mutation_p.V350E|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.V465E|TRPM1_uc001zfm.3_Missense_Mutation_p.V443E	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	443					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		Ttcttcctccacttcctcttt	0.542000													32	49					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1316285	1316285	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr4:1316285G>T	uc003gda.3	+	3	603	c.573G>T	c.(571-573)aaG>aaT	p.K191N	MAEA_uc010ibs.1_Intron|MAEA_uc003gdd.3_Intron|MAEA_uc003gdb.3_Intron|MAEA_uc011bvb.2_Missense_Mutation_p.K123N|MAEA_uc003gdc.3_Intron|MAEA_uc011bvc.2_Missense_Mutation_p.K190N|MAEA_uc011bvd.2_Missense_Mutation_p.K143N|MAEA_uc010ibt.3_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	191	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.R190W(1)|p.R190Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GGCTCCGGAAGATGAAGGTGC	0.662000													33	49					2.59497e-14	2.83328e-14	1	1	0
CENPM	79019	broad.mit.edu	37	22	42339699	42339699	+	Missense_Mutation	SNP	C	C	T	rs138744954		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:42339699C>T	uc003bbn.3	-	4	385	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Intron	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	106					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						GTGGCTCTCCCGCCCAGCTGG	0.572000													32	45					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354765	122354765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr3:122354765C>T	uc003efm.2	+	11	1921	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	PARP15_uc003efn.2_Nonsense_Mutation_p.R424*|PARP15_uc003efo.1_Nonsense_Mutation_p.R366*|PARP15_uc003efp.1_Nonsense_Mutation_p.R385*|PARP15_uc011bjt.1_Nonsense_Mutation_p.R316*	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	597	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTACGTTGTGCGAGTACTTAC	0.478000													42	92					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:85039999_85040007delGCAGCGCCA	uc001dka.2	-	0	157_165	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_uc001dkc.3_5'UTR|CTBS_uc001dkb.2_5'UTR	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													10	47	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152579988	152579989	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:152579988_152579989insA	uc021vrb.1	-	6	653_654	c.624_625insT	c.(622-627)actgaafs	p.T208fs	NEB_uc002txu.3_Frame_Shift_Ins_p.T208fs|NEB_uc021vrc.1_Frame_Shift_Ins_p.T208fs|NEB_uc010fnx.3_Frame_Shift_Ins_p.T208fs|NEB_uc021vrd.1_Frame_Shift_Ins_p.T208fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	208					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.E209*(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCAGTCTTCAGTGTACAGTT	0.391													67	52	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	T	-	rs11288337		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr3:49723112delT	uc003cxg.3	-	10	1376	c.1304delA	c.(1303-1305)aacfs	p.N435fs	MST1_uc011bcs.1_Frame_Shift_Del_p.T474fs	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													9	288	---	---	---	---					
CITED2	10370	broad.mit.edu	37	6	139694300	139694309	+	Frame_Shift_Del	DEL	CACACGAAGT	CACACGAAGT	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:139694300_139694309delCACACGAAGT	uc021zfz.1	-	1	863_872	c.773_782delACTTCGTGTG	c.(772-783)gacttcgtgtgcfs	p.D258fs	CITED2_uc021zga.1_Frame_Shift_Del_p.D258fs|CITED2_uc003qip.1_Frame_Shift_Del_p.D258fs|CITED2_uc021zgb.1_Frame_Shift_Del_p.D258fs	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	258	Asp/Glu-rich (acidic).				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CTGCTGTTTGCACACGAAGTCCGTCATAAA	0.490													15	42	---	---	---	---					
ASAH1	427	broad.mit.edu	37	8	17916973	17916973	+	Splice_Site	DEL	T	T	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr8:17916973delT	uc003wyn.2	-	12	1163	c.966_splice	c.e12-1	p.E322_splice	ASAH1_uc003wyl.2_Splice_Site_p.E306_splice|ASAH1_uc003wym.2_Splice_Site_p.E281_splice|ASAH1_uc003wyo.2_Splice_Site_p.E300_splice	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	306					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TAGCATCGAGTCTAGATACAA	0.398													25	41	---	---	---	---					
STMN4	81551	broad.mit.edu	37	8	27097616	27097616	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr8:27097616delG	uc011lak.2	-	5	577	c.463delC	c.(463-465)caafs	p.Q155fs	STMN4_uc003xfj.3_Frame_Shift_Del_p.Q155fs|STMN4_uc011lai.2_Frame_Shift_Del_p.Q155fs|STMN4_uc011laj.2_Frame_Shift_Del_p.Q119fs|STMN4_uc003xfk.3_Frame_Shift_Del_p.Q128fs|STMN4_uc010luo.3_Frame_Shift_Del_p.Q128fs	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	128					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ATGGCCTTTTGGATCACCTCT	0.512													10	119	---	---	---	---					
FBXL15	79176	broad.mit.edu	37	10	104182716	104182717	+	Frame_Shift_Ins	INS	-	-	G	rs145311924	by1000genomes	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr10:104182716_104182717insG	uc001kvl.1	+	4	1238_1239	c.1130_1131insG	c.(1129-1131)gcgfs	p.A377fs	FBXL15_uc001kvk.2_Frame_Shift_Ins_p.A290fs	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 15 (FBXL15), mRNA.	290					G2/M transition of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|bone mineralization|dorsal/ventral pattern formation|positive regulation of BMP signaling pathway|protein ubiquitination	SCF ubiquitin ligase complex|cytoplasm	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CAGGATATGGCGGGCTTCGCAC	0.649											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	94	---	---	---	---					
OR5T2	219464	broad.mit.edu	37	11	56000572	56000573	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:56000572_56000573delAA	uc010rjc.2	-	0	89_90	c.89_90delTT	c.(88-90)tttfs	p.F30fs		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGATATGCATAAAGTTACAGTT	0.351													39	67	---	---	---	---					
CDC42BPG	55561	broad.mit.edu	37	11	64603951	64603963	+	Frame_Shift_Del	DEL	CCAGCTGGGGGCC	CCAGCTGGGGGCC	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:64603951_64603963delCCAGCTGGGGGCC	uc001obs.4	-	11	1424_1436	c.1424_1436delGGCCCCCAGCTGG	c.(1423-1437)gggcccccagctggtfs	p.G475fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	475					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACCTGGGCTACCAGCTGGGGGCCCATCCGTCTG	0.653											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	52	---	---	---	---					
TEKT5	146279	broad.mit.edu	37	16	10788448	10788448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr16:10788448delC	uc002czz.1	-	0	355	c.283delG	c.(283-285)gacfs	p.D95fs		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	95					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTGGACTGGTCCCAGTCGTGG	0.677													7	95	---	---	---	---					
SERPINF1	5176	broad.mit.edu	37	17	1679947	1679953	+	Frame_Shift_Del	DEL	GAGAACT	GAGAACT	-	rs146939364		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:1679947_1679953delGAGAACT	uc002ftl.3	+	6	1065_1071	c.908_914delGAGAACT	c.(907-915)cgagaactgfs	p.R303fs		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	303					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.L305V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GACATAGACCGAGAACTGAAGACCGTG	0.512													60	73	---	---	---	---					
OLIG1	116448	broad.mit.edu	37	21	34442676	34442677	+	In_Frame_Ins	INS	-	-	CCT			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr21:34442676_34442677insCCT	uc002yqz.3	+	0	227_228	c.124_125insCCT	c.(124-126)ccc>cCCTcc	p.48_49insS		NM_138983	NP_620450	Q8TAK6	OLIG1_HUMAN	Homo sapiens oligodendrocyte transcription factor 1 (OLIG1), mRNA.	48	Ser-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CAGGCAGCCGCcctcctcctcc	0.723													11	29	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	Splice_Site	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	uc002zfn.4	+	1	159	c.134_splice	c.e1+1	p.P45_splice	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													21	25	---	---	---	---					
SEC14L2	23541	broad.mit.edu	37	22	30818390	30818391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:30818390_30818391insA	uc003ahr.3	+	11	1382_1383	c.1206_1207insA	c.(1204-1209)ccgaaafs	p.P402fs	SEC14L2_uc011aky.2_Frame_Shift_Ins_p.P319fs|SEC14L2_uc011akx.2_Frame_Shift_Ins_p.P348fs|SEC14L2_uc003ahs.3_Frame_Shift_Ins_p.P328fs|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Intron|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	402					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGGCACCCCGAAATAACACCT	0.515													21	38	---	---	---	---					
RENBP	5973	broad.mit.edu	37	X	153200984	153200985	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:153200984_153200985insT	uc004fjo.2	-	9	1292_1293	c.1122_1123insA	c.(1120-1125)cgagagfs	p.R374fs	NAA10_uc004fjm.1_5'Flank|NAA10_uc004fjn.1_5'Flank|NAA10_uc011mzg.1_5'Flank	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	374					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	ACCTTGCCCTCTCGGCTCAGGT	0.644													144	29	---	---	---	---					
