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
RBL1	5933	broad.mit.edu	37	20	35668610	35668610	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr20:35668610G>C	ENST00000373664.3	-	14	1915	c.1849C>G	c.(1849-1851)Cta>Gta	p.L617V	RBL1_ENST00000344359.3_Missense_Mutation_p.L617V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	617	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GGGTGCATTAGAGGAGACATT	0.413000													20	84					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280344	152280344	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:152280344T>C	ENST00000368799.1	-	3	7053	c.7018A>G	c.(7018-7020)Agc>Ggc	p.S2340G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2340	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGGAGCTGTCTGCTGAC	0.567000									Ichthyosis				5	434					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319171	43319171	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr21:43319171T>G	ENST00000380486.3	-	13	2102	c.1861A>C	c.(1861-1863)Aag>Cag	p.K621Q	C2CD2_ENST00000329623.7_Missense_Mutation_p.K466Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	621						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCTTTATGCTTTTTGGCAGTG	0.627000													10	35					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159789560	159789560	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr4:159789560A>T	ENST00000264433.6	+	13	1847	c.1772A>T	c.(1771-1773)cAc>cTc	p.H591L	FNIP2_ENST00000379346.3_Missense_Mutation_p.H614L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	591	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCAGAGAGACACAACCCCTGG	0.562000													8	18					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421925	153421925	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:153421925C>A	ENST00000369951.4	+	5	961	c.901C>A	c.(901-903)Cct>Act	p.P301T		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	301					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTTCCACCCTTTGATGGC	0.542000													59	357					9.16383e-17	1.09815e-16	1	1	0
REXO4	57109	broad.mit.edu	37	9	136277437	136277437	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:136277437G>T	ENST00000371942.3	-	4	1091	c.892C>A	c.(892-894)Cct>Act	p.P298T	REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	298	Exonuclease.					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		AGGTTCTCAGGCCGAATCCCA	0.488000													31	121					2.91434e-09	3.25061e-09	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42224567	42224567	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:42224567C>G	ENST00000541110.1	-	12	3107	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	TRERF1_ENST00000340840.2_Missense_Mutation_p.E744Q|TRERF1_ENST00000354325.2_Missense_Mutation_p.E744Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.E827Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E744Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	827	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAAGATTCTCCACTGTTGGG	0.458000													10	27					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483543	36483543	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:36483543G>T	ENST00000342292.4	-	11	5929	c.5909C>A	c.(5908-5910)tCt>tAt	p.S1970Y	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1970						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTCTAGGTGAGAGACGGAATC	0.557000													11	19					1.58986e-06	1.72038e-06	1	1	0
KDM8	79831	broad.mit.edu	37	16	27226311	27226311	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:27226311C>G	ENST00000286096.4	+	4	953	c.780C>G	c.(778-780)agC>agG	p.S260R	KDM8_ENST00000441782.2_Missense_Mutation_p.S298R|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000567785.1_3'UTR	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	260					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										AGTTCATCAGCAAATACATCG	0.502000													10	22					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022862	58022862	+	Silent	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:58022862C>A	ENST00000341156.4	-	7	1364	c.780G>T	c.(778-780)cgG>cgT	p.R260R	B4GALNT1_ENST00000418555.2_Silent_p.R205R|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	260					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGGTACAGCCGAGGGTTGG	0.587000													7	11					2.0095e-06	2.15835e-06	1	1	0
TMEM127	55654	broad.mit.edu	37	2	96930910	96930910	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:96930910G>A	ENST00000258439.3	-	2	466	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TMEM127_ENST00000432959.1_Silent_p.D70D	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGCCCAACACGTCGGAGACCC	0.657000											OREG0014808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238051	26238051	+	RNA	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr8:26238051C>G	ENST00000519902.1	-	0	1897																											TTACAGCACTCAAGCTGCTTT	0.383000													8	21					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664463	151664463	+	Silent	SNP	A	A	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:151664463A>C	ENST00000392800.2	+	2	386	c.132A>C	c.(130-132)tcA>tcC	p.S44S	GALNTL5_ENST00000431418.2_Silent_p.S44S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	44						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AGCCTCTGTCAGCTTGGTCCC	0.423000													13	17					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													3	36					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091167	52091167	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:52091167A>G	ENST00000262259.2	+	5	1941	c.1583A>G	c.(1582-1584)gAa>gGa	p.E528G	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	528					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATACTGGAGAAAGACACCAT	0.433000													7	25					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077752	56077752	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:56077752C>T	ENST00000394252.3	+	2	863	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	218							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCCAGTTCTCCGAAATCCAAA	0.537000													16	42					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128821529	128821529	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:128821529A>G	ENST00000280333.6	+	14	1439	c.1330A>G	c.(1330-1332)Aca>Gca	p.T444A	RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	444	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AAGCAAAACAACAGCGAAGAA	0.398000													35	92					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380675	78380675	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr11:78380675A>T	ENST00000278550.7	-	32	7177	c.6715T>A	c.(6715-6717)Tat>Aat	p.Y2239N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CGGATGTCATACCGTAGTGGT	0.557000													39	75					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559988	11559988	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:11559988A>C	ENST00000252455.2	+	16	1774	c.1438A>C	c.(1438-1440)Acc>Ccc	p.T480P	PRKCSH_ENST00000591462.1_Missense_Mutation_p.T477P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.T477P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.T487P|PRKCSH_ENST00000589838.1_Missense_Mutation_p.T480P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.T477P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	480					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCGCTCCACCACCGTGAGTGC	0.682000													10	38					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73164573	73164573	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:73164573C>T	ENST00000377110.3	-	24	3799	c.3556G>A	c.(3556-3558)Gat>Aat	p.D1186N	TRPM3_ENST00000377105.1_Missense_Mutation_p.D1045N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D1186N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1213N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1045N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1058N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1048N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1045N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1035N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1048N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1190N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1058N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTGAGCTCATCATCGGTTATG	0.393000													14	17					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42676797	42676797	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:42676797G>A	ENST00000232978.8	+	12	1290	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	368					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGGAAAGAGGAAATGCAGAG	0.398000													17	30					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238397	26238397	+	RNA	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr8:26238397C>T	ENST00000519902.1	-	0	1551																											GATGTTCCTTCTGTAGAGTTC	0.353000													33	45					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466879	132466879	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:132466879G>C	ENST00000333577.4	+	6	2002	c.1893G>C	c.(1891-1893)aaG>aaC	p.K631N	EP400_ENST00000389562.2_Missense_Mutation_p.K594N|EP400_ENST00000330386.6_Missense_Mutation_p.K595N|EP400_ENST00000389561.2_Missense_Mutation_p.K595N|EP400_ENST00000332482.4_Missense_Mutation_p.K558N			Q96L91	EP400_HUMAN	E1A binding protein p400	631					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCGGTGAAGACTCAGCAGC	0.647000													14	47					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16465345	16465345	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr5:16465345G>T	ENST00000308683.2	-	1	556	c.430C>A	c.(430-432)Ccc>Acc	p.P144T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	144						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCCTTCTTGGGAGACATGGAC	0.622000													34	70					7.11191e-15	8.38396e-15	1	1	0
TJP2	9414	broad.mit.edu	37	9	71836257	71836257	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:71836257G>C	ENST00000377245.4	+	5	1005	c.797G>C	c.(796-798)aGc>aCc	p.S266T	TJP2_ENST00000265384.7_Missense_Mutation_p.S266T|TJP2_ENST00000453658.2_Missense_Mutation_p.S243T|TJP2_ENST00000348208.4_Missense_Mutation_p.S266T|TJP2_ENST00000535702.1_Missense_Mutation_p.S270T|TJP2_ENST00000539225.1_Missense_Mutation_p.S297T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	266					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CGGGCCTACAGCCCGGAGTAC	0.736000													3	1					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19009041	19009041	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:19009041G>T	ENST00000354791.3	-	28	3188	c.2947C>A	c.(2947-2949)Cgt>Agt	p.R983S	GPR64_ENST00000356606.4_Missense_Mutation_p.R985S|GPR64_ENST00000340581.3_Missense_Mutation_p.R880S|GPR64_ENST00000379876.1_Missense_Mutation_p.R975S|GPR64_ENST00000379873.2_Missense_Mutation_p.R948S|GPR64_ENST00000357991.3_Missense_Mutation_p.R996S|GPR64_ENST00000360279.4_Missense_Mutation_p.R977S|GPR64_ENST00000379878.3_Missense_Mutation_p.R983S|GPR64_ENST00000379869.3_Missense_Mutation_p.R999S|GPR64_ENST00000357544.3_Missense_Mutation_p.R969S			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	999					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGAGCCATACGGCCTTTCCCA	0.428000													36	91					1.90571e-15	2.26498e-15	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48745185	48745185	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:48745185C>T	ENST00000427699.1	+	12	1782	c.1702C>T	c.(1702-1704)Cat>Tat	p.H568Y	ABCC3_ENST00000285238.8_Intron	NM_001144070.1	NP_001137542.1	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	0	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGCCAGGGCTCATTGGACTCT	0.627000													4	15					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911284	230911284	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:230911284G>A	ENST00000295190.4	-	4	1016	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	186						integral to membrane|plasma membrane	symporter activity	p.Y186Y(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCCTCCAGCCGTACTCTGCGC	0.582000													3	46					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410258	63410258	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:63410258G>A	ENST00000330258.3	-	2	3181	c.2909C>T	c.(2908-2910)cCa>cTa	p.P970L	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGCAGGACCTGGCCCCACTGG	0.567000													7	14					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													10	25					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139092446	139092446	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:139092446C>G	ENST00000371746.3	-	2	366	c.248G>C	c.(247-249)tGc>tCc	p.C83S	LHX3_ENST00000371748.5_Missense_Mutation_p.C78S	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	78					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GTCGTCCTTGCAGTAAACGCT	0.627000													4	19					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	17					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479980	73479980	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr8:73479980A>T	ENST00000523207.1	+	2	599	c.11A>T	c.(10-12)aAg>aTg	p.K4M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	4					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATGGCAGAAAAGGCTCCCCCG	0.507000													24	69					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177629	7177629	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:7177629C>T	ENST00000406697.1	+	15	2369	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	C1S_ENST00000360817.5_Missense_Mutation_p.R581C|C1S_ENST00000402681.3_Missense_Mutation_p.R414C|C1S_ENST00000328916.3_Missense_Mutation_p.R581C			P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCGTGCTGTTCGCCTCAAGGC	0.527000													11	23					0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	10	120877094	120877094	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:120877094G>A	ENST00000361432.2	+	4	422	c.396G>A	c.(394-396)aaG>aaA	p.K132K	FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Silent_p.K132K|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	132										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TTCTCACAAAGGGGATATGCC	0.423000													36	94					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55172572	55172572	+	Missense_Mutation	SNP	G	G	A	rs111573608		TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:55172572G>A	ENST00000425133.2	-	3	334	c.296C>T	c.(295-297)aCc>aTc	p.T99I	FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTCCTTCAAGGTCTGGTTGAT	0.448000													3	39					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655447	6655447	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr11:6655447G>A	ENST00000299441.3	-	3	2299	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	630	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATCAATGCGGAATGGGGGA	0.602000													5	47					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843193	28843193	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:28843193C>G	ENST00000422425.2	+	46	3388	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C	PLB1_ENST00000541605.1_Missense_Mutation_p.S91C|PLB1_ENST00000327757.5_Missense_Mutation_p.S1126C	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1126	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGGGACTCTCTTGGAGGTGA	0.502000													10	61					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298953	37298953	+	Silent	SNP	A	A	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:37298953A>C	ENST00000310758.4	-	6	893	c.246T>G	c.(244-246)gcT>gcG	p.A82A	ELMO1_ENST00000448602.1_Silent_p.A82A|ELMO1_ENST00000442504.1_Silent_p.A82A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	82					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGCGTTCTGAGCCTTATGGG	0.493000													17	31					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175355	143175355	+	Silent	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:143175355G>T	ENST00000408916.1	+	1	390	c.390G>T	c.(388-390)gtG>gtT	p.V130V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	130					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CAGGGTGGGTGCCCTGGCTCC	0.473000													5	38					5.9392e-07	6.57392e-07	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77661352	77661352	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr4:77661352A>C	ENST00000296043.6	+	5	2979	c.2026A>C	c.(2026-2028)Agc>Cgc	p.S676R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	676					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGAAGACACAGCAGCCTGGA	0.602000													4	41					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663566	117663566	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:117663566C>T	ENST00000368508.3	-	28	4864	c.4666G>A	c.(4666-4668)Gga>Aga	p.G1556R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1550R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1556					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AACTTACCTCCATTTTTAGTT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	53					0	0	1	0	0
DEFB123	245936	broad.mit.edu	37	20	30037909	30037909	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr20:30037909T>C	ENST00000376309.3	+	2	316	c.136T>C	c.(136-138)Tgc>Cgc	p.C46R		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	46					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTATGTTTACTGCATAAATAA	0.438000													7	65					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10659603	10659603	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:10659603C>G	ENST00000309469.4	+	6	1032	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	287					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGGCACGCCTGGTGGCCAG	0.647000													8	31					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108788599	108788599	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:108788599G>T	ENST00000232603.5	-	9	777	c.695C>A	c.(694-696)cCa>cAa	p.P232Q	MORC1_ENST00000483760.1_Missense_Mutation_p.P232Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	232					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.P232L(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACCTCGCTGGGAAACTGAA	0.353000													5	43					0.014758	0.0152851	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52418832	52418832	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:52418832G>A	ENST00000420323.2	+	53	8614	c.8353G>A	c.(8353-8355)Gtg>Atg	p.V2785M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2785	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCACCAGTCGGTGTCCAAGAA	0.567000											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	5					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777997	183777997	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:183777997G>C	ENST00000318351.1	+	9	1235	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	401						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GACCGAGCCAGATGGGGGCTC	0.607000													20	34					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92017904	92017904	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:92017904G>T	ENST00000450295.1	-	4	910	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	SEMA4D_ENST00000455551.2_Missense_Mutation_p.P45Q|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P45Q|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P45Q|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P45Q|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P45Q|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P45Q|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P45Q			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	45	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTAGATGTCTGGCTCATGAAA	0.537000													9	42					1.12685e-05	1.20142e-05	1	1	0
DEFB123	245936	broad.mit.edu	37	20	30037912	30037912	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr20:30037912A>T	ENST00000376309.3	+	2	319	c.139A>T	c.(139-141)Ata>Tta	p.I47L		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	47					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGTTTACTGCATAAATAATAA	0.428000													9	67					0	0	1	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544302	89544302	+	RNA	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:89544302C>A	ENST00000468494.1	-	0	351																											TAAACCCCAACATCCTCAGCC	0.547000													12	100					6.49762e-13	7.59802e-13	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112476781	112476781	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:112476781C>T	ENST00000230538.7	-	15	2342	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	LAMA4_ENST00000389463.4_Missense_Mutation_p.D642N|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.D642N|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.D642N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	649	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAAATTCGGTCAGTGGTGTTC	0.383000													15	42					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321636	52321636	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr8:52321636C>T	ENST00000356297.4	-	17	2648	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A850T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	850					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGGGGTCGGCGTGCCGGGTG	0.697000													5	22					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224560	107224560	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:107224560G>A	ENST00000302917.1	-	3	781	c.689C>T	c.(688-690)gCa>gTa	p.A230V		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	230										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAATTTGCCTGCTACAATAGC	0.582000													40	129					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213484	21213484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:21213484G>A	ENST00000574002.1	-	12	1710	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.Q410*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.Q410*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	410	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCCTGAGACTGAGCCTCAAAG	0.512000													6	27					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134165143	134165143	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:134165143C>G	ENST00000392638.2	+	8	1249	c.1054C>G	c.(1054-1056)Ccg>Gcg	p.P352A	LRRC27_ENST00000432555.2_Missense_Mutation_p.P193R|LRRC27_ENST00000368614.3_Missense_Mutation_p.P320R|LRRC27_ENST00000368615.3_Missense_Mutation_p.P320R|LRRC27_ENST00000368613.4_Missense_Mutation_p.P320R|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352A|LRRC27_ENST00000368610.3_Missense_Mutation_p.P258R|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.P258R			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGCATCTTACCCGACCTCTTG	0.498000													6	242					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34959902	34959902	+	Missense_Mutation	SNP	C	C	G	rs77196675		TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr21:34959902C>G	ENST00000453626.1	-	2	332	c.328G>C	c.(328-330)Gat>Cat	p.D110H	DONSON_ENST00000432378.1_Missense_Mutation_p.D110H|DONSON_ENST00000303113.6_Missense_Mutation_p.D110H|AP000304.12_ENST00000429238.1_Intron|DONSON_ENST00000303071.5_Missense_Mutation_p.D110H			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	110					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGATTAGAATCTAAAAACTGA	0.308000													4	43					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175337920	175337920	+	Silent	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:175337920G>T	ENST00000392552.2	-	3	871	c.633C>A	c.(631-633)ctC>ctA	p.L211L	GPR155_ENST00000295500.4_Silent_p.L211L|GPR155_ENST00000392551.2_Silent_p.L211L	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	211					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						ATACACGCAGGAGTCCGAGTC	0.348000													6	63					0.0215528	0.0220081	1	1	0
ERAP2	64167	broad.mit.edu	37	5	96244818	96244818	+	Silent	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr5:96244818C>A	ENST00000437043.3	+	14	2877	c.2166C>A	c.(2164-2166)ctC>ctA	p.L722L	ERAP2_ENST00000379904.4_Silent_p.L677L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	722					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L722L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTGAAAACCTCAAGGTTTGTG	0.388000													20	28					2.32416e-17	2.80836e-17	1	1	0
IFT140	9742	broad.mit.edu	37	16	1642250	1642250	+	Missense_Mutation	SNP	C	C	A	rs139286030		TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:1642250C>A	ENST00000426508.2	-	6	924	c.561G>T	c.(559-561)aaG>aaT	p.K187N	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	187										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AACTGCTCTTCTTCCAGTTAA	0.498000													22	49					1.50039e-11	1.74045e-11	1	1	0
OR7D2	162998	broad.mit.edu	37	19	9296802	9296802	+	Silent	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:9296802G>C	ENST00000344248.2	+	1	524	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	115					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CGCTACTCCTGACCGTGATGG	0.507000													31	71					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158023	26158023	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:26158023G>C	ENST00000325250.1	+	2	1108	c.921G>C	c.(919-921)ttG>ttC	p.L307F		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	307							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGAGGCTTTGAGGGATGAGG	0.527000													6	21					0	0	1	0	0
SOX1	6656	broad.mit.edu	37	13	112722279	112722279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr13:112722279G>T	ENST00000330949.1	+	1	367	c.307G>T	c.(307-309)Gag>Tag	p.E103*		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	103					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GTTCATCGACGAGGCCAAGCG	0.632000													10	30					0.000442599	0.00046505	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64601059	64601059	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:64601059C>A	ENST00000498707.1	-	21	3469	c.3127G>T	c.(3127-3129)Gtt>Ttt	p.V1043F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1015F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1043	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V1043I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAATGGTAACTTTCTCTTGA	0.478000													26	37					1.85244e-09	2.0822e-09	1	1	0
NR1H2	7376	broad.mit.edu	37	19	50881476	50881476	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:50881476C>T	ENST00000253727.5	+	5	487	c.252C>T	c.(250-252)caC>caT	p.H84H	NR1H2_ENST00000599105.1_Silent_p.H84H|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.H84H|NR1H2_ENST00000593926.1_Silent_p.H84H|NR1H2_ENST00000411902.2_Intron	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	84					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGCTGGGCCACGAGCTTTGCC	0.617000													39	115					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89744426	89744426	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:89744426G>A	ENST00000279488.7	-	2	2008	c.777C>T	c.(775-777)ccC>ccT	p.P259P	DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Silent_p.P134P|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	259	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GATCCGAGATGGGGATTTGCT	0.443000													32	107					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141678556	141678556	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:141678556C>T	ENST00000499676.2	-	11	1502	c.831G>A	c.(829-831)gcG>gcA	p.A277A	TFDP2_ENST00000495310.1_Silent_p.A240A|TFDP2_ENST00000479040.1_Silent_p.A276A|TFDP2_ENST00000310282.6_Silent_p.A277A|TFDP2_ENST00000486111.1_Silent_p.A277A|TFDP2_ENST00000467072.1_Silent_p.A277A|TFDP2_ENST00000477292.1_Silent_p.A201A|TFDP2_ENST00000317104.7_Silent_p.A261A|TFDP2_ENST00000397991.4_Silent_p.A309A|TFDP2_ENST00000489671.1_Silent_p.A337A	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	337	DCB2.|Dimerization (Potential).				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CCAGGGATTTCGCAAGTTTCA	0.423000													5	100					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184152	55184152	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:55184152C>T	ENST00000337714.3	+	2	1560	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	AKAP1_ENST00000571629.1_Silent_p.L443L|AKAP1_ENST00000539273.1_Silent_p.L443L|AKAP1_ENST00000314126.3_Silent_p.L443L|AKAP1_ENST00000572557.1_Silent_p.L443L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	443					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GAAGAGCCTTCTGTCCAGCCC	0.622000													8	25					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99511204	99511204	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:99511204T>A	ENST00000393677.4	+	8	1065	c.861T>A	c.(859-861)ttT>ttA	p.F287L	ZFYVE27_ENST00000453958.2_Missense_Mutation_p.F287L|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.F169L|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.F201L|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.F194L|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.F292L|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.F255L|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.F287L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	287	Necessary for interaction with VAPA and function in cell projections formation.				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		ATGAAGAGTTTAAAGATGCGA	0.527000													13	9					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129911690	129911690	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:129911690C>T	ENST00000368654.3	-	8	2032		c.e8+1		MKI67_ENST00000368653.3_Splice_Site	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67						cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTCAACTCACCTTGATGATT	0.463000													41	107					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3808853	3808853	+	Splice_Site	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:3808853A>T	ENST00000262367.5	-	17	4179		c.e17+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAATTAACTTACTGGAATTCC	0.443000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						11	31					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502237	16502237	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:16502237T>C	ENST00000396652.1	-	5	1341	c.629A>G	c.(628-630)aAg>aGg	p.K210R	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.K186R			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	186					Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CTGGACTGGCTTGGCAGGTGA	0.502000													89	94					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58855933	58855933	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:58855933G>C	ENST00000472469.1	-	7	1041	c.203C>G	c.(202-204)tCt>tGt	p.S68C	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.S148C|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S148C			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	148										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CCTTCTGCCAGAGAGTGGAGG	0.443000													18	15					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11675950	11675950	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:11675950G>A	ENST00000423059.4	-	2	1080	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane		p.R277C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTCCCGCGTCTCCTTGCT	0.537000										HNSCC(18;0.044)			39	70					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224703	42224703	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:42224703C>G	ENST00000541110.1	-	11	3102	c.2534G>C	c.(2533-2535)aGa>aCa	p.R845T	TRERF1_ENST00000340840.2_Missense_Mutation_p.R742T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R742T|TRERF1_ENST00000372922.4_Missense_Mutation_p.R825T|TRERF1_ENST00000372917.4_Missense_Mutation_p.R742T			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	825	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCAATACCTCTTTGCTGGAG	0.517000													4	41					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	19999122	19999122	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr13:19999122G>T	ENST00000400230.2	-	19	1475	c.1431C>A	c.(1429-1431)ttC>ttA	p.F477L	TPTE2_ENST00000382975.4_Missense_Mutation_p.F437L|TPTE2_ENST00000382978.1_Missense_Mutation_p.F437L|TPTE2_ENST00000457266.2_Missense_Mutation_p.F366L|TPTE2_ENST00000400103.2_Missense_Mutation_p.F366L|TPTE2_ENST00000382977.4_Missense_Mutation_p.F477L|TPTE2_ENST00000390680.2_Missense_Mutation_p.F400L|TPTE2_ENST00000255310.6_Missense_Mutation_p.F400L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	477	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGAACCAGAAGAAAAATGGAC	0.279000													3	14					0.115264	0.116064	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67518914	67518914	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:67518914A>C	ENST00000355520.5	-	3	820	c.179T>G	c.(178-180)tTt>tGt	p.F60C	OPHN1_ENST00000540071.1_Missense_Mutation_p.F60C	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	60					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CGTCTGGGAAAATTTCTGAAC	0.378000													9	47					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183387019	183387019	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:183387019G>T	ENST00000435564.1	-	1	285	c.85C>A	c.(85-87)Cag>Aag	p.Q29K	PDE1A_ENST00000331935.6_Missense_Mutation_p.Q29K|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.Q29K|PDE1A_ENST00000410103.1_Missense_Mutation_p.Q29K|PDE1A_ENST00000358139.2_Missense_Mutation_p.Q29K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	29	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCAGGCGCTGCCACATTTTT	0.413000													9	36					7.48243e-07	8.21933e-07	1	1	0
ATP2B4	493	broad.mit.edu	37	1	203668676	203668676	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:203668676C>G	ENST00000357681.5	+	4	1603	c.480C>G	c.(478-480)atC>atG	p.I160M	ATP2B4_ENST00000367218.3_Missense_Mutation_p.I160M|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I160M|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I160M|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I160M	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	160					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCAGTGATCATCGTGGTGT	0.502000													32	77					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57059520	57059520	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:57059520G>A	ENST00000436936.1	+	6	890	c.665G>A	c.(664-666)aGg>aAg	p.R222K	NLRC5_ENST00000539144.1_Missense_Mutation_p.R222K|NLRC5_ENST00000308149.7_Missense_Mutation_p.R222K|NLRC5_ENST00000262510.6_Missense_Mutation_p.R222K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	222	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAGGGCCCGAGGGTGACCGTG	0.617000													31	80					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6588969	6588969	+	Translation_Start_Site	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:6588969T>C	ENST00000379953.2	+	2	354	c.2T>C	c.(1-3)aTg>aCg	p.M1T	LY86_ENST00000230568.4_Start_Codon_SNP_p.M1T|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	1					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					GCCCCCACCATGAAGGGTTTC	0.527000													14	46					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804295	152804295	+	Silent	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:152804295C>G	ENST00000367255.5	-	14	1876	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	SYNE1_ENST00000367248.3_Silent_p.L415L|SYNE1_ENST00000448038.1_Silent_p.L432L|SYNE1_ENST00000341594.5_Silent_p.L425L|SYNE1_ENST00000265368.4_Silent_p.L425L|SYNE1_ENST00000423061.1_Silent_p.L432L|SYNE1_ENST00000367253.4_Silent_p.L425L|SYNE1_ENST00000466159.2_Silent_p.L425L|SYNE1_ENST00000413186.2_Silent_p.L425L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	425					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCCTCTCTCAGGGCCACCT	0.453000										HNSCC(10;0.0054)			31	77					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100728	8100728	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:8100728C>T	ENST00000379328.3	+	3	1270	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.F234F	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	234					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGGACTCTTCCCCCCCAGCA	0.697000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						15	26					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773305	40773305	+	Missense_Mutation	SNP	G	G	T	rs146060713		TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:40773305G>T	ENST00000602553.1	-	5	2264	c.1970C>A	c.(1969-1971)cCc>cAc	p.P657H	ZNF658_ENST00000377626.3_Missense_Mutation_p.P657H|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACATTCATAGGGTTTCTCCCC	0.423000													48	216					7.34454e-26	9.10221e-26	1	1	0
CDH23	64072	broad.mit.edu	37	10	73326645	73326645	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:73326645G>A	ENST00000224721.6	+	6	596	c.591G>A	c.(589-591)gaG>gaA	p.E197E	CDH23_ENST00000299366.7_Silent_p.E237E|CDH23_ENST00000398809.4_Silent_p.E192E|CDH23_ENST00000461841.3_Silent_p.E237E|CDH23_ENST00000398842.3_Silent_p.E192E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	192	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGATCCGGGAGCTGGACTACG	0.657000													9	14					0	0	1	0	0
DEFB123	245936	broad.mit.edu	37	20	30037911	30037911	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr20:30037911C>G	ENST00000376309.3	+	2	318	c.138C>G	c.(136-138)tgC>tgG	p.C46W		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	46					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATGTTTACTGCATAAATAATA	0.428000													8	65					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693316	94693316	+	Silent	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr4:94693316C>A	ENST00000282020.4	+	16	2949	c.2691C>A	c.(2689-2691)acC>acA	p.T897T	GRID2_ENST00000510992.1_Silent_p.T802T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	897					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGTTTTCCACCTCGTCAATTG	0.453000													4	67					0.00909568	0.0094883	1	1	0
MMD2	221938	broad.mit.edu	37	7	4965126	4965126	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:4965126G>T	ENST00000404774.3	-	2	279	c.85C>A	c.(85-87)Cag>Aag	p.Q29K	MMD2_ENST00000406755.1_Missense_Mutation_p.Q29K|MMD2_ENST00000401401.3_Missense_Mutation_p.Q29K	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	29						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCTGTGGGCTGGTACCTCTTG	0.597000													41	54					4.64027e-19	5.6541e-19	1	1	0
ZBTB24	9841	broad.mit.edu	37	6	109803086	109803086	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:109803086G>A	ENST00000230122.3	-	2	311	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	48	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGTGGGCCCGGAAATGTACAT	0.468000													16	72					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011361	50011361	+	Missense_Mutation	SNP	G	G	T	rs144227676	byFrequency	TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:50011361G>T	ENST00000322246.4	-	2	268	c.269C>A	c.(268-270)aCg>aAg	p.T90K		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	90					defense response to bacterium	extracellular region		p.T90R(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					ATTTGGGTCCGTAGGGTCACA	0.413000													17	37					8.81451e-21	1.08314e-20	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47514600	47514600	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr4:47514600C>A	ENST00000273859.3	+	2	312	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	ATP10D_ENST00000504445.1_Missense_Mutation_p.L15M	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	15					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGGCGACGGCTGATCAGAGG	0.517000													3	31					1	1	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84092936	84092936	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:84092936C>T	ENST00000343411.3	-	21	3297	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	934					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGCTGTGGCTTGGCCCAAG	0.552000													11	22					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													5	31					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron					serum amyloid A2									p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572000													3	49					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224725	42224725	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:42224725C>G	ENST00000541110.1	-	11	3080	c.2512G>C	c.(2512-2514)Gaa>Caa	p.E838Q	TRERF1_ENST00000340840.2_Missense_Mutation_p.E735Q|TRERF1_ENST00000354325.2_Missense_Mutation_p.E735Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.E818Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E735Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	818	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCATGGTTTTCTAGTTCTGGC	0.517000													3	43					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119170	18119170	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:18119170C>T	ENST00000222250.4	+	1	194	c.51C>T	c.(49-51)acC>acT	p.T17T	ARRDC2_ENST00000608009.1_Intron|ARRDC2_ENST00000379656.3_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	17										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACGGCGCGACCGCGGGCGTCG	0.706000													4	24					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542765	133542765	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:133542765C>T	ENST00000409261.1	-	14	1992	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.C540Y|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	540							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGCTGGCGCAACTTGTCAG	0.552000													22	86					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117385904	117385904	+	Silent	SNP	T	T	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:117385904T>A	ENST00000160373.3	-	14	3607	c.3516A>T	c.(3514-3516)ctA>ctT	p.L1172L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1172										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGAACAGGTCTAGTAGCTGTT	0.403000													6	39					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56603055	56603055	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:56603055C>T	ENST00000426861.1	-	4	568		c.e4+1		RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317256.6_Splice_Site|SEPT4_ENST00000580809.1_Splice_Site|SEPT4_ENST00000412945.3_Splice_Site|SEPT4_ENST00000583114.1_Splice_Site|SEPT4_ENST00000393086.1_Splice_Site|SEPT4_ENST00000580844.1_Splice_Site|SEPT4_ENST00000317268.3_Splice_Site|SEPT4_ENST00000457347.2_Splice_Site|SEPT4_ENST00000579371.1_Splice_Site|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4						apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTTCCTTACCTTCAGCACC	0.532000													15	41					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196714954	196714954	+	Silent	SNP	A	A	G	rs1137971		TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:196714954A>G	ENST00000367429.4	+	21	3558	c.3318A>G	c.(3316-3318)acA>acG	p.T1106T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1106					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGATTCTACAGGAAAATGTG	0.393000													4	125					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202910772	202910772	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:202910772A>T	ENST00000340990.5	-	8	1355	c.1057T>A	c.(1057-1059)Tat>Aat	p.Y353N	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Y353N	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	353					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GAGACTCCATAGAAGTGGACA	0.502000													13	44					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870250	151870250	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:151870250G>C	ENST00000329342.5	+	3	1165	c.940G>C	c.(940-942)Gag>Cag	p.E314Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	314							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGGGGAAGAGTGAGTCTG	0.572000													64	96					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12805724	12805724	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:12805724G>A	ENST00000380339.3	-	2	474	c.438C>T	c.(436-438)tgC>tgT	p.C146C	FBXW9_ENST00000393261.3_Silent_p.C146C|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000587955.1_Silent_p.C136C			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	146							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCAGCGCAATGCAGGCTGCCG	0.637000													12	16					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442508	61442508	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr14:61442508C>G	ENST00000261249.6	-	4	1513	c.1129G>C	c.(1129-1131)Gaa>Caa	p.E377Q	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	377						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GGTTTTCTTTCTTTTGACAGA	0.448000													26	67					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924263	227924263	+	Silent	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:227924263G>A	ENST00000396625.3	-	28	2448	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	COL4A4_ENST00000329662.7_Silent_p.P747P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	747	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P747P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGTGAGCCGGGAGGGCCTG	0.552000													18	40					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858930	105858930	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr2:105858930C>T	ENST00000258456.1	+	1	731	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	205						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCGTGTTCTTCGCGCCCTTTG	0.672000													4	26					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404587	8404587	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr9:8404587G>A	ENST00000381196.4	-	33	4703	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	PTPRD_ENST00000356435.5_Missense_Mutation_p.A1387V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A980V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A977V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A977V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1374V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A980V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1365V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A981V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A980V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1387V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1387	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTACATTCGCGTATCTATT	0.378000										TSP Lung(15;0.13)			6	31					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24696235	24696235	+	Silent	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:24696235C>A	ENST00000374409.1	-	7	920	c.666G>T	c.(664-666)acG>acT	p.T222T	STPG1_ENST00000003583.8_Silent_p.T175T|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.T175T|STPG1_ENST00000337248.4_Silent_p.T222T	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		GGCCTGTTGACGTCAGTTTTA	0.413000													24	93					9.57634e-11	1.09336e-10	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349203	150349203	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:150349203C>A	ENST00000218316.3	+	2	1217	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	383	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GACCGTGCCTCTGGCCACCCT	0.587000													11	83					1.58986e-06	1.72038e-06	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29142124	29142124	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:29142124G>T	ENST00000377167.2	+	1	814	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCTTCAGAAAGTGTTTAGGAC	0.448000													24	55					1.66031e-10	1.88081e-10	1	1	0
ACACB	32	broad.mit.edu	37	12	109671619	109671619	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:109671619C>T	ENST00000338432.7	+	30	4325	c.4206C>T	c.(4204-4206)gcC>gcT	p.A1402A	ACACB_ENST00000377848.3_Silent_p.A1402A|ACACB_ENST00000543201.1_Silent_p.A68A|ACACB_ENST00000377854.5_Silent_p.A1332A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1402					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAGCGAGGCCCGCACCTCCC	0.622000													19	34					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114514536	114514536	+	Missense_Mutation	SNP	G	G	A	rs147397910	byFrequency	TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:114514536G>A	ENST00000369558.1	+	15	3336	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	HIPK1_ENST00000340480.4_Missense_Mutation_p.R661H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R641H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1001H|HIPK1_ENST00000369559.4_Missense_Mutation_p.R1035H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R990H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1035H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R641H|HIPK1_ENST00000369555.2_Missense_Mutation_p.R990H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1035	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGCTCAACGCGGGGGGACC	0.527000													17	30					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184265	55184265	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:55184265C>G	ENST00000337714.3	+	2	1673	c.1440C>G	c.(1438-1440)atC>atG	p.I480M	AKAP1_ENST00000571629.1_Missense_Mutation_p.I480M|AKAP1_ENST00000539273.1_Missense_Mutation_p.I480M|AKAP1_ENST00000314126.3_Missense_Mutation_p.I480M|AKAP1_ENST00000572557.1_Missense_Mutation_p.I480M	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	480					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGGCAGGCATCCTGGTGGAAG	0.567000													25	57					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442367	61442367	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr14:61442367C>G	ENST00000261249.6	-	4	1654	c.1270G>C	c.(1270-1272)Gat>Cat	p.D424H	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	424						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GGGTTAGCATCTTTGGAAAAG	0.473000													28	34					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636612	44636612	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:44636612G>C	ENST00000262894.6	+	5	2125	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.Q615H	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				ATTCCCATCAGAGGGTTCACA	0.433000													9	31					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88767426	88767426	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:88767426G>A	ENST00000237201.1	+	3	479	c.362G>A	c.(361-363)tGt>tAt	p.C121Y		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	121						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CCAACAGATTGTGGCTGTGAG	0.443000													3	30					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224820	42224820	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:42224820C>T	ENST00000541110.1	-	11	2985	c.2417G>A	c.(2416-2418)aGa>aAa	p.R806K	TRERF1_ENST00000340840.2_Missense_Mutation_p.R703K|TRERF1_ENST00000354325.2_Missense_Mutation_p.R703K|TRERF1_ENST00000372922.4_Missense_Mutation_p.R786K|TRERF1_ENST00000372917.4_Missense_Mutation_p.R703K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	786	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTTGGAATCTCAAGCCAAT	0.468000													13	55					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13087598	13087598	+	Silent	SNP	T	T	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr18:13087598T>A	ENST00000506447.1	+	32	6026	c.5946T>A	c.(5944-5946)acT>acA	p.T1982T	CEP192_ENST00000325971.8_Silent_p.T1386T|CEP192_ENST00000430049.2_Silent_p.T1507T|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1577										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACTATCAACTGTATACTTAT	0.323000													24	68					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92375759	92375759	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr8:92375759T>C	ENST00000276609.3	+	13	1720	c.1481T>C	c.(1480-1482)aTg>aCg	p.M494T	SLC26A7_ENST00000309536.2_Missense_Mutation_p.M494T|SLC26A7_ENST00000523719.1_Missense_Mutation_p.M494T|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	494	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGACAGAAATGGACAGTGTA	0.254000													26	55					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885010	77885010	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr11:77885010C>A	ENST00000340067.3	-	2	869	c.591G>T	c.(589-591)gaG>gaT	p.E197D	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	197						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGTACTCCTCCTCTGGCAGGC	0.567000													14	96					2.61681e-11	3.01141e-11	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84092935	84092935	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:84092935G>C	ENST00000343411.3	-	21	3298	c.2803C>G	c.(2803-2805)Cca>Gca	p.P935A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	935					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGGCTGTGGCTTGGCCCAA	0.547000													11	20					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4747337	4747337	+	Missense_Mutation	SNP	T	T	A	rs141320697	by1000genomes	TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr16:4747337T>A	ENST00000304283.4	-	16	2185	c.1891A>T	c.(1891-1893)Atg>Ttg	p.M631L	ANKS3_ENST00000585773.1_Missense_Mutation_p.M558L|ANKS3_ENST00000446014.2_Missense_Mutation_p.M502L	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	631										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GACTCACCCATCTCACGGACA	0.632000													5	59					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104370	142104370	+	RNA	SNP	A	A	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:142104370A>T	ENST00000390379.1	-	0	94																											TCCTGTCTTCAGGATGTGGAA	0.537000													31	40					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202910771	202910771	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:202910771T>A	ENST00000340990.5	-	8	1356	c.1058A>T	c.(1057-1059)tAt>tTt	p.Y353F	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Y353F	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	353					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGAGACTCCATAGAAGTGGAC	0.507000													13	46					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716181	105716181	+	Silent	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr14:105716181C>T	ENST00000463376.2	+	3	946	c.405C>T	c.(403-405)gtC>gtT	p.V135V	BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.V135V|BTBD6_ENST00000392554.3_Silent_p.V210V|BTBD6_ENST00000536364.1_Silent_p.V210V			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	210	BTB.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GCTGGGAGGTCATTGACGCAC	0.602000													5	17					0	0	1	0	0
MAMSTR	284358	broad.mit.edu	37	19	49216976	49216976	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:49216976C>T	ENST00000318083.6	-	9	1024	c.961G>A	c.(961-963)Gat>Aat	p.D321N	MAMSTR_ENST00000419611.1_Missense_Mutation_p.D218N|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D153N|MAMSTR_ENST00000356751.4_Missense_Mutation_p.D218N|MAMSTR_ENST00000377367.3_Missense_Mutation_p.D153N			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	321	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						atccTACCATCAGGCTCCACC	0.582000											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	37					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760939	12760939	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:12760939G>A	ENST00000456935.2	-	17	2184	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S714L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	715					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGGCCCCACCGACCACTCTAG	0.612000													4	105					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10405120	10405120	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr17:10405120C>G	ENST00000226207.5	-	25	3314	c.3220G>C	c.(3220-3222)Gaa>Caa	p.E1074Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1074						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGTCATTTTCTATATCCATT	0.343000													10	30					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378869	142378869	+	RNA	SNP	T	T	C			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:142378869T>C	ENST00000390398.3	+	0	174																											TCTCAAACCATGGGCCATGAC	0.443000													17	88					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52265524	52265524	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:52265524C>A	ENST00000305533.5	-	4	557	c.314G>T	c.(313-315)cGg>cTg	p.R105L	TWF2_ENST00000499914.2_Missense_Mutation_p.R105L|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACTGTGGCCCGCGTGGCCGC	0.592000											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	109					0.0215528	0.0220081	1	1	0
CACNB2	783	broad.mit.edu	37	10	18828440	18828440	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr10:18828440C>A	ENST00000396576.2	+	13	2106	c.1605C>A	c.(1603-1605)caC>caA	p.H535Q	CACNB2_ENST00000377315.4_Missense_Mutation_p.H542Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.H497Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.H340Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.H538Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.H562Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.H566Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.H590Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.H536Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	590			S -> L (in BRS4; loss of function).		axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCACAACCACAGAGACGAGA	0.587000													7	21					0.0293803	0.0297913	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111492503	111492504	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:111492503_111492504delCT	ENST00000369763.4	-	3	2228_2229	c.1838_1839delAG	c.(1837-1839)gagfs	p.E613fs	LRIF1_ENST00000485275.2_Frame_Shift_Del_p.E77fs|LRIF1_ENST00000494675.1_Frame_Shift_Del_p.E77fs|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCACCATAAACTCTGTCTCTTT	0.371													16	84	---	---	---	---					
FAM91A3P	729182	broad.mit.edu	37	1	149263087	149263088	+	RNA	INS	-	-	T			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr1:149263087_149263088insT	ENST00000325963.8	+	0	2634_2635																											TGAAACAGAACTACAAGGAGAG	0.411													23	18	---	---	---	---					
CCDC66	285331	broad.mit.edu	37	3	56605255	56605257	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr3:56605255_56605257delATG	ENST00000394672.3	+	7	931_933	c.861_863delATG	c.(859-864)aaatgg>aag	p.W288del	CCDC66_ENST00000436465.2_In_Frame_Del_p.W288del|CCDC66_ENST00000326595.7_In_Frame_Del_p.W254del	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	288										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTTCTGAAAAATGGAATGATCCT	0.271													24	50	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66213848	66213866	+	Frame_Shift_Del	DEL	ACATCACTGGCAGAAGTAA	ACATCACTGGCAGAAGTAA	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr4:66213848_66213866delACATCACTGGCAGAAGTAA	ENST00000273854.3	-	15	3164_3182	c.2564_2582delTTACTTCTGCCAGTGATGT	c.(2563-2583)tttacttctgccagtgatgtcfs	p.FTSASDV855fs	EPHA5_ENST00000354839.4_Frame_Shift_Del_p.FTSASDV833fs|EPHA5_ENST00000432638.2_Frame_Shift_Del_p.FTSASDV692fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.FTSASDV856fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	855	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A858A(1)|p.V861A(1)|p.T856I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATAACTCCAGACATCACTGGCAGAAGTAAACTTTCGGAA	0.397										TSP Lung(17;0.13)			10	48	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187530334	187530335	+	Splice_Site	DEL	TA	TA	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr4:187530334_187530335delTA	ENST00000441802.2	-	16	10416		c.e16+1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTTTTCACTTACCGTTTCTCG	0.455										HNSCC(5;0.00058)			12	14	---	---	---	---					
ENPP3	5169	broad.mit.edu	37	6	131958597	131958607	+	Splice_Site	DEL	TGCATTGTAAG	TGCATTGTAAG	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr6:131958597_131958607delTGCATTGTAAG	ENST00000414305.1	+	2	401_406	c.73_78delTGCATTGTAAG	c.(73-78)tgcattdel	p.CI25fs	ENPP3_ENST00000358229.5_Splice_Site_p.CI25fs|ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000357639.3_Splice_Site_p.CI25fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	25					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TAAAATAGCTTGCATTGTAAGTACAATTCTT	0.303													8	50	---	---	---	---					
DAGLB	221955	broad.mit.edu	37	7	6474597	6474604	+	Frame_Shift_Del	DEL	AAGAGGGT	AAGAGGGT	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:6474597_6474604delAAGAGGGT	ENST00000297056.6	-	4	636_643	c.467_474delACCCTCTT	c.(466-474)gaccctcttfs	p.DPL156fs	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Del_p.DPL29fs|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Del_p.DPL115fs	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	156					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TTTTCCCCCCAAGAGGGTCAAAGACAAT	0.538													32	68	---	---	---	---					
INTS4P1	285905	broad.mit.edu	37	7	64670343	64670344	+	RNA	INS	-	-	A			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:64670343_64670344insA	ENST00000587624.1	+	0	1437																											CTTAAATTAGGAAAAAAAAAAC	0.351													2	4	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151874111	151874111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr7:151874111delT	ENST00000355193.2	-	38	8645	c.8427delA	c.(8425-8427)aaafs	p.K2809fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2809fs					lysine (K)-specific methyltransferase 2C																		GTGGTGAATGTTTATCAGAGA	0.338													22	57	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427498	49427502	+	Frame_Shift_Del	DEL	GTGCC	GTGCC	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr12:49427498_49427502delGTGCC	ENST00000301067.7	-	39	10985_10989	c.10986_10990delGGCAC	c.(10984-10992)atggcactafs	p.MAL3662fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGTCCAGGTAGTGCCATACCCCCAG	0.654													10	38	---	---	---	---					
SKOR2	652991	broad.mit.edu	37	18	44774954	44774963	+	Frame_Shift_Del	DEL	GCTGAGTGTA	GCTGAGTGTA	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr18:44774954_44774963delGCTGAGTGTA	ENST00000425639.1	-	1	591_600	c.592_601delTACACTCAGC	c.(592-603)tacactcagccafs	p.YTQP198fs	SKOR2_ENST00000400404.1_Frame_Shift_Del_p.YTQP198fs	NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN	SKI family transcriptional corepressor 2	198					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity			endometrium(1)	1						GCTGCGTCTGGCTGAGTGTACTTGGCGTCG	0.581													3	3	---	---	---	---					
HPN-AS1	100128675	broad.mit.edu	37	19	35565843	35565849	+	RNA	DEL	TCCCCAG	TCCCCAG	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr19:35565843_35565849delTCCCCAG	ENST00000392227.2	-	0	404					NR_024562.1																						TGGAGGCATTTCCCCAGGAGATGGGCC	0.652													3	4	---	---	---	---					
SRMS	6725	broad.mit.edu	37	20	62178709	62178709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chr20:62178709delG	ENST00000217188.1	-	1	148	c.108delC	c.(106-108)cccfs	p.P36fs		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	36							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGTCAGTGTTGGGGTCCAGGG	0.692													9	20	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54584888	54584892	+	Frame_Shift_Del	DEL	ATTGC	ATTGC	-			TCGA-XF-AAMT-01A-11D-A42E-08	TCGA-XF-AAMT-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0224746d-bc54-4055-bd1d-1ad7c33fa24c	33c3c4a5-5485-4ae2-8a3c-7cf4507b847b	g.chrX:54584888_54584892delATTGC	ENST00000336470.4	+	15	1605_1609	c.1466_1470delATTGC	c.(1465-1470)tattgcfs	p.YC489fs	GNL3L_ENST00000360845.2_Frame_Shift_Del_p.YC489fs	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	489					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CTCACTGGGTATTGCACCAATCCGA	0.512													18	81	---	---	---	---					
