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
UGGT2	55757	broad.mit.edu	37	13	96485297	96485297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:96485297G>A	ENST00000376747.3	-	38	4482	c.4412C>T	c.(4411-4413)cCc>cTc	p.P1471L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1471	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTTGTTTTGGGATTATTGCA	0.358000													5	6					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81606007	81606007	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:81606007C>T	ENST00000380167.4	+	8	1437	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.P38S			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	38					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TGCTGGAAACCCCAGAAGTCT	0.403000													11	41					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188758	32188758	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32188758G>A	ENST00000375023.3	-	4	934	c.796C>T	c.(796-798)Cca>Tca	p.P266S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	266	EGF-like 6.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GACACACCTGGGGGACAGAGG	0.652000													33	78					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565405	11565405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11565405C>T	ENST00000359227.3	-	7	1464	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G340D	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	347	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAGGCGATAGCCGTTCAGGCT	0.632000													15	38					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986053	11986053	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:11986053G>A	ENST00000434078.2	+	0	608					NR_027425.1																						CACAATGATAGGCATTCTCTC	0.507000													3	45					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883933	152883933	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152883933G>A	ENST00000368764.3	+	2	1724	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	IVL_ENST00000392667.2_Missense_Mutation_p.D408N			P07476	INVO_HUMAN	involucrin	554					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGGTCCAAGACATTCAACC	0.572000													32	33					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738731	84738731	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:84738731G>A	ENST00000372142.2	+	9	1049	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	NRG3_ENST00000556918.1_Missense_Mutation_p.G310R|NRG3_ENST00000545131.1_Missense_Mutation_p.G130R|NRG3_ENST00000537893.1_Missense_Mutation_p.G130R|NRG3_ENST00000404547.1_Missense_Mutation_p.G480R|NRG3_ENST00000404576.2_Missense_Mutation_p.G284R|NRG3_ENST00000372141.2_Missense_Mutation_p.G480R	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	480	Poly-Ser.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGCAGCCCAGGGCAAAGAAG	0.507000													3	22					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49711004	49711004	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:49711004G>A	ENST00000451037.2	-	8	1737	c.797C>T	c.(796-798)tCc>tTc	p.S266F	CA10_ENST00000285273.4_Missense_Mutation_p.S266F|CA10_ENST00000340813.6_Missense_Mutation_p.S272F|CA10_ENST00000442502.2_Missense_Mutation_p.S266F|CA10_ENST00000570565.1_Missense_Mutation_p.S191F	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	266					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CAGGCGCAAGGAATGCATCTG	0.532000													5	60					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5110367	5110367	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:5110367C>T	ENST00000315997.5	-	3	630	c.429G>A	c.(427-429)ttG>ttA	p.L143L	C16orf89_ENST00000350219.4_Silent_p.L181L|C16orf89_ENST00000474471.3_Silent_p.L143L|C16orf89_ENST00000472572.3_Silent_p.L143L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Silent_p.L181L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	143						extracellular region		p.L181L(2)|p.L143L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TGGGGTACACCAAGGAGGCAT	0.617000													17	37					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125855	8125855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:8125855C>T	ENST00000223145.5	+	8	1888	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	444										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCTCTCTTTTCATGTCCTGAC	0.393000													37	125					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134049632	134049632	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:134049632C>A	ENST00000359428.5	+	22	3228	c.3084C>A	c.(3082-3084)ctC>ctA	p.L1028L	NUP214_ENST00000451030.1_Silent_p.L1029L|NUP214_ENST00000411637.2_Silent_p.L1018L			P35658	NU214_HUMAN	nucleoporin 214kDa	1028	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCCCAGTCTCTTGCCCCATG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								17	60					3.41278e-10	3.4539e-10	1	1	0
OTC	5009	broad.mit.edu	37	X	38268275	38268275	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:38268275G>A	ENST00000039007.4	+	8	1016	c.864G>A	c.(862-864)atG>atA	p.M288I	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	288					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGGTTACAATGAAGGTACAAA	0.423000													13	9					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417534	40417534	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40417534G>A	ENST00000333407.5	+	4	1114	c.1020G>A	c.(1018-1020)atG>atA	p.M340I	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	340										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGGGGAGATGATGCGCTGGG	0.697000													27	58					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629276	1629276	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1629276G>A	ENST00000399685.1	-	1	417	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	114	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GAGCCCCCACGAAATCCACAG	0.652000													65	84					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671610	30671610	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30671610G>A	ENST00000376406.3	-	10	5997	c.5350C>T	c.(5350-5352)Cat>Tat	p.H1784Y	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.H1520Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1784	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGGAGGCATGAATTGGTGTC	0.552000								Other conserved DNA damage response genes					16	84					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803457	20803457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:20803457G>A	ENST00000359062.3	+	14	2888	c.2848G>A	c.(2848-2850)Gat>Aat	p.D950N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	950	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAAGTTGGCTGATATCAATGG	0.338000													23	28					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053156	15053156	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15053156C>T	ENST00000248072.3	+	1	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCTGAACCCCTTCATCTA	0.552000													22	46					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830279	13830279	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13830279G>A	ENST00000265104.4	-	37	6209	c.6105C>T	c.(6103-6105)aaC>aaT	p.N2035N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2035	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCAATACGGTTAAATTCAT	0.358000									Kartagener syndrome				12	32					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406944	9406944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9406944G>A	ENST00000591998.1	-	6	1364	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I	ZNF699_ENST00000308650.3_Missense_Mutation_p.T379I			Q32M78	ZN699_HUMAN	zinc finger protein 699	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCATGTACAGTGAGTTTTGA	0.413000													14	24					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646283	15646283	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:15646283T>G	ENST00000378076.3	-	20	2395	c.2042A>C	c.(2041-2043)gAa>gCa	p.E681A		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATATGCTCCTTCCCCTTCATT	0.358000													14	37					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071618	132071618	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:132071618C>T	ENST00000336375.5	+	9	1009	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	ACPP_ENST00000351273.7_Missense_Mutation_p.L307F|ACPP_ENST00000475741.1_Missense_Mutation_p.L274F	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	307						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAACGGACTCCTTCCTCCCTA	0.433000													15	37					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067866	190067866	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:190067866G>A	ENST00000367462.3	-	8	1814	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	FAM5C_ENST00000534846.1_Missense_Mutation_p.S426F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		528						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTACGCCAGGAGGGATCAAA	0.433000													23	81					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102027870	102027870	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:102027870G>A	ENST00000510508.4	+	1	183	c.37G>A	c.(37-39)Gag>Aag	p.E13K	DIO3_ENST00000359323.3_5'UTR			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	0					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGGTCGGAGAGGGCGAGGG	0.657000													4	18					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92244552	92244552	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92244552G>A	ENST00000265734.4	-	8	1294	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	CDK6_ENST00000424848.2_Silent_p.L295L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	295	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GGGTGAGACAGGGCACTGTAG	0.433000			T	MLLT10	ALL								13	54					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75239181	75239181	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:75239181C>T	ENST00000360663.5	-	2	291	c.180G>A	c.(178-180)gtG>gtA	p.V60V	PPP3CB_ENST00000394822.2_Silent_p.V60V|PPP3CB_ENST00000394828.2_Silent_p.V60V|PPP3CB_ENST00000394829.2_Silent_p.V60V|PPP3CB_ENST00000342558.3_Silent_p.V60V|PPP3CB_ENST00000545874.1_5'UTR			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	60	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GACCTTCTTTCACCAAGTGGT	0.448000													24	80					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10781728	10781728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:10781728C>T	ENST00000361367.2	+	6	1027	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	201					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCGGAAGTTCGTTTAGGAAT	0.378000													13	49					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27097601	27097601	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:27097601C>T	ENST00000350889.4	-	6	591	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	STMN4_ENST00000265770.7_Missense_Mutation_p.E133K|STMN4_ENST00000522908.1_Missense_Mutation_p.E160K|STMN4_ENST00000523048.1_Missense_Mutation_p.E160K|STMN4_ENST00000519614.1_Missense_Mutation_p.E133K|STMN4_ENST00000519997.1_Missense_Mutation_p.E124K	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	133					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TTGTTGTTTTCCTCAATGGCC	0.507000													37	36					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62544606	62544606	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:62544606C>T	ENST00000448257.2	+	3	382	c.181C>T	c.(181-183)Cca>Tca	p.P61S	CDK1_ENST00000373809.2_Missense_Mutation_p.P61S|CDK1_ENST00000395284.3_Missense_Mutation_p.P61S|CDK1_ENST00000316629.4_Missense_Mutation_p.P61S			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	61	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						ACTTCGTCATCCAAATATAGT	0.338000													10	57					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041307	234041307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:234041307G>A	ENST00000366618.3	+	2	231	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCAGCCCCCGGAGACTGTCC	0.647000													17	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434109	179434109	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179434109C>T	ENST00000589042.1	-	326	76974	c.76750G>A	c.(76750-76752)Gaa>Aaa	p.E25584K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23016K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23943K|TTN_ENST00000359218.5_Missense_Mutation_p.E16644K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16519K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16711K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23943	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E16644Q(1)|p.E23016Q(1)|p.E16519Q(1)|p.E23014Q(1)|p.E16711Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTGTTTTCTAATGTAAGC	0.413000													48	22					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113655185	113655185	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:113655185G>A	ENST00000358160.4	+	14	2021	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R343Q|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R305Q|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R239Q	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	510						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTGGCCTACGAAGGAGAAGG	0.393000													16	52					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657980	657980	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:657980C>T	ENST00000255622.6	+	17	2142	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	PDE6B_ENST00000496514.1_Missense_Mutation_p.S700F|PDE6B_ENST00000429163.2_Missense_Mutation_p.S421F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	700					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GAGTACCTGTCCCTGGAGACG	0.607000													17	67					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222401	118222401	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:118222401G>A	ENST00000402510.2	-	11	2791	c.2792C>T	c.(2791-2793)tCa>tTa	p.S931L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	931										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGTGCCCACTGAACTGGTGGG	0.498000													21	3					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58422887	58422887	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:58422887G>A	ENST00000300896.4	-	2	335	c.141C>T	c.(139-141)ttC>ttT	p.F47F	USP32_ENST00000393003.3_Silent_p.F47F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	47					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCCCGGATGAAGCAGTGCT	0.463000													7	82					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11298537	11298537	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11298537G>A	ENST00000361445.4	-	12	2000	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	642					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTAACCACATGAGCATGGCCA	0.562000													14	66					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52839834	52839834	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52839834G>A	ENST00000449956.2	+	16	1890	c.1884G>A	c.(1882-1884)gtG>gtA	p.V628V	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	628					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACACCGGTGAGCCCCGCCA	0.642000													25	66					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432151	135432151	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135432151G>A	ENST00000394143.1	+	6	6577	c.6286G>A	c.(6286-6288)Gat>Aat	p.D2096N	GPR112_ENST00000370652.1_Missense_Mutation_p.D2096N|GPR112_ENST00000287534.4_Missense_Mutation_p.D2033N|GPR112_ENST00000412101.1_Missense_Mutation_p.D1891N|GPR112_ENST00000394141.1_Missense_Mutation_p.D1891N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2096					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAATGTCACAGATGACATTGT	0.473000													46	23					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025671	99025671	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:99025671C>G	ENST00000453547.2	-	2	267	c.268G>C	c.(268-270)Ggg>Cgg	p.G90R	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.G81R|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.G81R|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.G90R|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.G90R|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.G90R																							GGGCCAGCCCCGCCAGGCAAC	0.542000													18	66					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510573	5510573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5510573G>A	ENST00000322641.5	+	1	659	c.637G>A	c.(637-639)Gat>Aat	p.D213N	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	213			D -> E (in dbSNP:rs7924754).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGGACTGGATTCCATTCT	0.498000													50	95					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797023	71797023	+	Missense_Mutation	SNP	G	G	A	rs151064013		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:71797023G>A	ENST00000258104.3	+	27	3161	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	DYSF_ENST00000410020.3_Missense_Mutation_p.G980R|DYSF_ENST00000409582.3_Missense_Mutation_p.G979R|DYSF_ENST00000413539.2_Missense_Mutation_p.G993R|DYSF_ENST00000410041.1_Missense_Mutation_p.G980R|DYSF_ENST00000409744.1_Missense_Mutation_p.G949R|DYSF_ENST00000409366.1_Missense_Mutation_p.G963R|DYSF_ENST00000394120.2_Missense_Mutation_p.G963R|DYSF_ENST00000429174.2_Missense_Mutation_p.G962R|DYSF_ENST00000409651.1_Missense_Mutation_p.G994R|DYSF_ENST00000409762.1_Missense_Mutation_p.G979R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	962						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGCTTCCCGGAGGCCAGTG	0.582000													7	12					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136072	220136072	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:220136072C>T	ENST00000490341.1	+	0	542					NR_003063.1																						CCCTACAACTCTATCCTGACC	0.522000													23	38					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172462	36172462	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36172462C>T	ENST00000357641.6	+	3	1729	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	BRPF3_ENST00000534694.1_Silent_p.S492S|BRPF3_ENST00000543502.1_Silent_p.S492S|BRPF3_ENST00000339717.7_Silent_p.S492S|BRPF3_ENST00000443324.2_Silent_p.S492S|BRPF3_ENST00000534400.1_Silent_p.S492S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	492					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTGGTCTCTCCTTTCAGAGGA	0.517000													13	99					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27728607	27728607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:27728607C>T	ENST00000264717.2	+	10	836	c.773C>T	c.(772-774)tCc>tTc	p.S258F	GCKR_ENST00000424318.2_Missense_Mutation_p.S68F	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	258	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGCGGCTCCTCCCGGATGAAA	0.547000													37	11					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637129	60637129	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:60637129C>T	ENST00000278853.5	+	3	438	c.438C>T	c.(436-438)tcC>tcT	p.S146S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	146					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCTGGACTCCCAGCTGGCAC	0.597000													9	25					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67109306	67109306	+	Silent	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:67109306T>A	ENST00000371037.4	+	7	440	c.363T>A	c.(361-363)atT>atA	p.I121I	SGIP1_ENST00000371035.3_Silent_p.I78I|SGIP1_ENST00000371036.3_Silent_p.I96I|SGIP1_ENST00000371039.1_Silent_p.I97I|SGIP1_ENST00000237247.6_Silent_p.I125I|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	121					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATATCAAGATTAAACCATTGC	0.358000													42	43					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798958	212798958	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:212798958G>A	ENST00000294829.3	+	1	1170	c.739G>A	c.(739-741)Gac>Aac	p.D247N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	247										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACTCCAAAATGACTTTAACAA	0.537000													70	83					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342209	3342209	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3342209C>T	ENST00000378398.3	+	14	3086	c.3004C>T	c.(3004-3006)Cac>Tac	p.H1002Y	PRDM16_ENST00000514189.1_Missense_Mutation_p.H1002Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.H1003Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.H1002Y|PRDM16_ENST00000442529.2_Missense_Mutation_p.H1001Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.H1001Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.H1002Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1002	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGGAACATCCACAACAAGGA	0.612000			T	EVI1	"""MDS, AML"""								28	80					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376623	49376623	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:49376623T>C	ENST00000200453.5	+	2	402	c.133T>C	c.(133-135)Tgg>Cgg	p.W45R		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	45	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCTAGAGCCCTGGCTGGTGGA	0.647000													13	34					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48467395	48467395	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:48467395G>A	ENST00000435803.1	+	42	12516	c.12492G>A	c.(12490-12492)aaG>aaA	p.K4164K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4164					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCCAACAAGAAATCTCACA	0.413000													3	24					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14674799	14674799	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:14674799C>T	ENST00000436007.2	+	7	442	c.318C>T	c.(316-318)ttC>ttT	p.F106F	TECR_ENST00000215567.5_Silent_p.F91F|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	91					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTCAGGTCTTCCTAACAGAGT	0.547000													68	144					0	0	1	0	0
EPPIN	57119	broad.mit.edu	37	20	44174380	44174380	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:44174380C>T	ENST00000354280.4	-	2	187	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	EPPIN_ENST00000555685.1_Missense_Mutation_p.E41K|EPPIN_ENST00000409554.1_Missense_Mutation_p.E41K|EPPIN_ENST00000336443.3_Missense_Mutation_p.E25K|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.E41K	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		TCTTGGAATTCACATTCTTCT	0.448000													29	109					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44586492	44586492	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:44586492C>T	ENST00000422871.1	+	7	874	c.450C>T	c.(448-450)ttC>ttT	p.F150F	PARVG_ENST00000444313.2_Silent_p.F150F|PARVG_ENST00000415224.1_Silent_p.F150F	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	150	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCAAGCGCTTCCAGCCCGACC	0.602000													12	101					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150917098	150917098	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:150917098G>A	ENST00000309180.5	-	3	306	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	26						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L26F(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCAACAAGGAAAACTAAA	0.368000													17	49					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3293438	3293438	+	Silent	SNP	C	C	T	rs142809979		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:3293438C>T	ENST00000292672.2	+	12	1489	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	484					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGGGACACCCCTACTGACCGC	0.687000													18	23					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													17	86					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79304855	79304855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79304855C>T	ENST00000419573.3	-	14	2115	c.1841G>A	c.(1840-1842)gGg>gAg	p.G614E	RASGRF1_ENST00000558480.2_Intron|RASGRF1_ENST00000560334.1_Intron	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	614					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ttccctggtcccCTCCCTGGT	0.458000													24	28					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190315	58190315	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58190315G>A	ENST00000302581.2	-	1	471	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A140A(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGCCAGACAGGCACCTACAC	0.502000													7	25					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167719447	167719447	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:167719447G>A	ENST00000230256.3	+	6	1060	c.885G>A	c.(883-885)gtG>gtA	p.V295V	UNC93A_ENST00000366829.2_Silent_p.V253V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	295			V -> M (in dbSNP:rs4708771).			integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCGGCTACGTGATGATCTGCT	0.612000													58	65					0	0	1	0	0
YWHAH	7533	broad.mit.edu	37	22	32352173	32352173	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:32352173C>T	ENST00000248975.5	+	2	408	c.135C>T	c.(133-135)ctC>ctT	p.L45L	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GAAATCTCCTCTCTGTGGCCT	0.433000													15	21					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873735	74873735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:74873735G>A	ENST00000289575.5	+	2	447	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000428359.2_5'UTR|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	18					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCAGACAAGGAAACCAAAGC	0.542000													58	99					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197399	43197399	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:43197399G>A	ENST00000522175.2	+	0	1152							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCGTCAGAGGATTATGATTT	0.358000													11	32					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979052	120979052	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:120979052G>A	ENST00000222462.2	+	4	1041	c.751G>A	c.(751-753)Gat>Aat	p.D251N	WNT16_ENST00000361301.2_Missense_Mutation_p.D241N	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	251					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TTTGTTGAAGGATAAATATGA	0.413000													6	26					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594778	55594778	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55594778C>T	ENST00000378397.1	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.502000										HNSCC(27;0.073)			29	131					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531943	140531943	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140531943C>T	ENST00000231136.1	+	1	2105	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S566L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S702L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.687000													77	199					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161029190	161029190	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:161029190C>T	ENST00000283249.2	-	6	1048	c.811G>A	c.(811-813)Gat>Aat	p.D271N	ITGB6_ENST00000428609.2_Missense_Mutation_p.D229N|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.D271N|ITGB6_ENST00000409872.1_Missense_Mutation_p.D271N			P18564	ITB6_HUMAN	integrin, beta 6	271	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAATCAGCATCACTCACAAAG	0.463000													24	71					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586400	106586400	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106586400C>T	ENST00000390602.2	-	0	164																											TGTACCAAGCCTCCCCCAGAC	0.542000													44	34					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513575	169513575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:169513575G>A	ENST00000367796.3	-	12	2150	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	F5_ENST00000367797.3_Missense_Mutation_p.P645L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	645	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCACGCATGGGGAAGAGGGT	0.463000													10	41					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378740	6378740	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:6378740T>A	ENST00000325203.5	-	4	1232	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ANGPT2_ENST00000523120.1_Missense_Mutation_p.E253V|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.E201V|ANGPT2_ENST00000415216.1_Missense_Mutation_p.E253V			O15123	ANGP2_HUMAN	angiopoietin 2	253					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		ATTAACTGTCTCCATGAGATC	0.348000													10	46					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461943	4461943	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:4461943C>T	ENST00000301395.3	-	3	812	c.753G>A	c.(751-753)ggG>ggA	p.G251G	GGT6_ENST00000574154.1_Silent_p.G283G|GGT6_ENST00000381550.3_Silent_p.G289G|GGT6_ENST00000573591.1_Silent_p.G135G	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	283					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCACCTCCACCCCCAGGTCTC	0.652000													4	8					0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450613	32450613	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:32450613G>A	ENST00000306901.3	+	7	696	c.598_splice	c.e7-1	p.G200_splice	CHRNA7_ENST00000455693.2_Splice_Site_p.G19_splice|CHRNA7_ENST00000454250.3_Splice_Site_p.G229_splice	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	200					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CCCTATGGAGGAATCCCCGGC	0.473000													8	31					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757699	757699	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:757699G>A	ENST00000215582.6	+	2	856	c.753G>A	c.(751-753)gtG>gtA	p.V251V		NM_173481.2	NP_775752.1			mitotic spindle positioning																		AGCCCCAGGTGAAGGGGGTGG	0.657000													6	17					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505164	159505164	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159505164G>A	ENST00000334857.2	-	1	678	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ATAAATATCAGGCCTATGGGC	0.418000													12	55					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457016	7457016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7457016G>A	ENST00000399422.4	+	1	137	c.89G>A	c.(88-90)tGg>tAg	p.W30*		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	30					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CACCAGCTTTGGACGCCTCTG	0.483000													38	120					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047037	19047037	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19047037G>A	ENST00000421369.3	+	7	1125	c.567G>A	c.(565-567)gaG>gaA	p.E189E	TMC7_ENST00000569532.1_Silent_p.E299E|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Silent_p.E299E	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	299						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTCGGAGTGAGGAGCACTTTC	0.483000													48	44					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19574200	19574200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:19574200G>A	ENST00000409832.3	+	9	1309	c.1257G>A	c.(1255-1257)atG>atA	p.M419I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	419										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGAAGAAATGAAGAAGCACG	0.358000													11	17					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756377	10756377	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10756377G>A	ENST00000416569.2	-	3	1037	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	XKR6_ENST00000304437.2_Silent_p.S58S	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	337						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCTTGTGATAGGAGGCTAGCA	0.562000													19	75					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150440140	150440140	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:150440140C>T	ENST00000358647.3	+	3	1280	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTCATCTTTCATTACATTTA	0.363000													21	29					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666204	49666204	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:49666204C>T	ENST00000339139.4	-	7	524	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	96						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATAGAGATTCTCACCACATC	0.408000													21	62					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111540581	111540581	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:111540581G>A	ENST00000428084.1	-	15	1601	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	DOCK4_ENST00000437633.1_Silent_p.S443S|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	443	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAGAGCCGAAGGAGATAAAAT	0.463000													6	10					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8082418	8082418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:8082418G>A	ENST00000296372.8	-	5	708	c.566C>T	c.(565-567)gCc>gTc	p.A189V	ABLIM2_ENST00000545242.1_Missense_Mutation_p.A189V|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A189V|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A189V|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A189V|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A189V|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A189V|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A189V|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A189V|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A189V			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	189	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GATGTACTCGGCATTCAGGAG	0.582000													4	8					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255666	42255666	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42255666G>A	ENST00000293414.1	+	5	1354	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	424	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCTCGGTTGGGAAGCCGCTG	0.677000													11	26					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434879	42434879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:42434879G>A	ENST00000397272.3	-	19	2273	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	PLA2G4F_ENST00000382396.4_Nonsense_Mutation_p.R726*	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	726	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGATTCCTCGGTCCAGGCAG	0.617000													54	29					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674779	167674779	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:167674779G>A	ENST00000519204.1	+	26	6590	c.6472G>A	c.(6472-6474)Gaa>Aaa	p.E2158K	TENM2_ENST00000545108.1_Missense_Mutation_p.E2278K|TENM2_ENST00000403607.2_Missense_Mutation_p.E2103K|TENM2_ENST00000518659.1_Missense_Mutation_p.E2279K|TENM2_ENST00000520394.1_Missense_Mutation_p.E2040K					teneurin transmembrane protein 2																		TGACATCTTCGAATACAATTC	0.542000													38	32					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232491	71232491	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71232491G>A	ENST00000226460.4	+	3	281	c.185G>A	c.(184-186)aGa>aAa	p.R62K		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	62	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGATTTCCACCA	0.547000													4	128					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438221	23438221	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:23438221C>T	ENST00000248996.4	+	2	1005	c.339C>T	c.(337-339)ccC>ccT	p.P113P	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	113						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGACGGGCCCCGCTGAGAGCA	0.692000													24	128					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878596	878596	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:878596A>T	ENST00000323510.4	-	8	856	c.857T>A	c.(856-858)tTt>tAt	p.F286Y	BRD9_ENST00000388890.4_Missense_Mutation_p.F266Y|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.F382Y|BRD9_ENST00000483173.1_Missense_Mutation_p.F329Y			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	382							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACTGGAGAGAAAGGTGACTGG	0.572000													7	55					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592780	156592780	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156592780C>T	ENST00000302938.4	-	1	495	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	134						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTCATGATCGTGGATGGAG	0.527000													14	49					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94712051	94712051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:94712051C>T	ENST00000371552.4	+	15	1452	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	EXOC6_ENST00000260762.6_Missense_Mutation_p.P480S|EXOC6_ENST00000371547.4_Missense_Mutation_p.P496S|EXOC6_ENST00000443748.2_Missense_Mutation_p.P377S	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	480					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AAAGAAATTCCCCATGTCTCA	0.303000													5	38					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91513659	91513659	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91513659G>T	ENST00000361188.5	-	12	2758	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	PRC1_ENST00000361919.3_Missense_Mutation_p.S516Y|PRC1_ENST00000394249.3_Missense_Mutation_p.S516Y|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.S475Y|PRC1-AS1_ENST00000556200.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	516	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGAAGTCGAGACACGGGGGA	0.542000													23	502					3.28513e-13	3.33946e-13	1	1	0
C9	735	broad.mit.edu	37	5	39315915	39315915	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:39315915C>T	ENST00000263408.4	-	6	927	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	278	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGTAAGTTTCATTTTTGGAA	0.338000													6	17					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265727	62265727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62265727G>A	ENST00000258991.3	-	5	2330	c.2246C>T	c.(2245-2247)aCc>aTc	p.T749I	TEX2_ENST00000583097.1_Missense_Mutation_p.T742I|TEX2_ENST00000584379.1_Missense_Mutation_p.T742I			Q8IWB9	TEX2_HUMAN	testis expressed 2	742					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCGGCTGTGGGTCAGGTGCCC	0.567000													15	92					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61885166	61885166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61885166C>T	ENST00000578681.1	+	10	1530	c.929C>T	c.(928-930)cCc>cTc	p.P310L	DDX42_ENST00000583590.1_Missense_Mutation_p.P310L|DDX42_ENST00000457800.2_Missense_Mutation_p.P310L|DDX42_ENST00000389924.2_Missense_Mutation_p.P310L|DDX42_ENST00000359353.5_Missense_Mutation_p.P191L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	310	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCATTTGGCCCATGTTGATT	0.458000													40	78					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533948	55533948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:55533948C>T	ENST00000220676.1	+	2	570	c.422C>T	c.(421-423)cCc>cTc	p.P141L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	141					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCGCCCCACCCCGTAGCCGTC	0.701000													24	83					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810663	246810663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:246810663C>T	ENST00000366513.4	+	9	1429	c.1160C>T	c.(1159-1161)cCa>cTa	p.P387L	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.P387L	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	387					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCGTCTGGGCCAGACTCTTCT	0.592000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	43					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064768	119064768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:119064768C>T	ENST00000296499.5	+	6	1871	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	NDST3_ENST00000433996.2_Missense_Mutation_p.P409S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	490	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAAAGAATATCCAGGGGGTCC	0.383000													11	28					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39384160	39384160	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:39384160G>A	ENST00000249396.7	-	4	421	c.120C>T	c.(118-120)ttC>ttT	p.F40F	SIRT2_ENST00000392081.2_Silent_p.F3F|SIRT2_ENST00000358931.5_Silent_p.F40F	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	40					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			AGTTCCGCAGGAAGTCCACTG	0.647000													4	5					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510431	9510431	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:9510431C>T	ENST00000246070.2	+	6	1299	c.807C>T	c.(805-807)atC>atT	p.I269I	LAMP5_ENST00000427562.2_Silent_p.I225I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	269						integral to membrane											AGGTGCAGATCCCTCGGGACA	0.547000													32	21					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56229998	56229998	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56229998C>T	ENST00000279791.1	-	1	879	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCTTTTACATCCTTATTTCTC	0.403000													36	55					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32369149	32369149	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:32369149C>T	ENST00000375200.1	+	11	2040	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	ZNF341_ENST00000342427.2_Silent_p.L552L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGAGCACCACCTGCAGACCGC	0.557000													68	159					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127776	152127776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152127776C>T	ENST00000316073.3	-	3	1863	c.1799G>A	c.(1798-1800)gGg>gAg	p.G600E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	600	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCTTCAGTCCCTTGGAAGTA	0.453000													45	158					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487415	36487415	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:36487415C>T	ENST00000342292.4	-	11	2058		c.e11-1			NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179							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)				TCAGCTCGTCCTGTGGGGCAG	0.582000													12	19					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514170	157514170	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:157514170G>A	ENST00000361835.3	-	5	883	c.726C>T	c.(724-726)tcC>tcT	p.S242S	FCRL5_ENST00000368190.3_Silent_p.S242S|FCRL5_ENST00000368189.3_Silent_p.S242S|FCRL5_ENST00000368191.3_Silent_p.S157S|FCRL5_ENST00000356953.4_Silent_p.S242S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	242	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGAAATTCGGGGAGAGACTCC	0.522000													39	118					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68965339	68965339	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:68965339C>T	ENST00000288368.4	+	9	1228	c.951C>T	c.(949-951)ttC>ttT	p.F317F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	317	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTGATTTCCATAGCAGTG	0.323000													19	26					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9490068	9490068	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9490068C>T	ENST00000352665.5	+	3	393	c.324C>T	c.(322-324)tcC>tcT	p.S108S	WDR16_ENST00000396219.3_Silent_p.S40S|WDR16_ENST00000299764.5_Silent_p.S118S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	108						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCGGCTGTCCCTTCACAAAG	0.453000													13	15					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703305	18703305	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:18703305C>T	ENST00000251296.1	+	8	1496	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	371	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACGAAGTCTTCCCGGAGCCCA	0.672000													24	42					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430114	107430114	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107430114C>T	ENST00000340010.5	-	6	774	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R162Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	197					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAATCCAATCCGCAGAATCCC	0.413000													5	14					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176395857	176395857	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:176395857A>G	ENST00000377219.2	-	6	1065	c.899T>C	c.(898-900)tTg>tCg	p.L300S	UIMC1_ENST00000511320.1_Missense_Mutation_p.L300S|UIMC1_ENST00000377227.4_Missense_Mutation_p.L300S|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	300	AIR.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAACCTCCAACTGGCAGAG	0.478000													11	37					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649626	34649626	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:34649626G>A	ENST00000537011.1	+	8	3799	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	NUTM1_ENST00000333756.4_Silent_p.Q1111Q|NUTM1_ENST00000438749.3_Silent_p.Q1129Q					NUT midline carcinoma, family member 1																		GACCCTCACAGCCTCGTAAAA	0.582000													19	67					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058521	79058521	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79058521G>A	ENST00000388820.4	-	19	3942	c.3732C>T	c.(3730-3732)tcC>tcT	p.S1244S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1244					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCCAACAGGGGACAAAGGGG	0.657000													5	41					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285117	152285117	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152285117C>T	ENST00000368799.1	-	3	2280	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	749	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)			CCCTCACTGTCAGTGGCCTGA	0.582000									Ichthyosis				6	458					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088270	17088270	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:17088270G>A	ENST00000443236.1	-	15	1838	c.1807C>T	c.(1807-1809)Ctt>Ttt	p.L603F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	556						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGGCGACCAAGGGGGACCATG	0.582000													16	27					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10898251	10898251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:10898251C>T	ENST00000283141.6	+	5	640	c.344C>T	c.(343-345)tCc>tTc	p.S115F	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	115						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TACCTAGTTTCCTGGTTTGAA	0.383000													11	53					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15733008	15733008	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:15733008G>A	ENST00000281171.4	+	21	3286	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	PTPRO_ENST00000445537.2_Missense_Mutation_p.E175K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E147K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E147K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E175K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E958K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	986	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTCCATGAATGAAGAGGAAGG	0.373000													13	31					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768809	51768809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:51768809C>T	ENST00000371117.3	-	42	7115	c.6840G>A	c.(6838-6840)tgG>tgA	p.W2280*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W2280*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2280					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATTGCCTCCCAGGAGATAT	0.338000													11	39					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39773604	39773604	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39773604G>A	ENST00000318801.4	+	4	571	c.483_splice	c.e4-1	p.S162_splice	SYNGR1_ENST00000328933.5_Intron|SYNGR1_ENST00000381535.4_Splice_Site_p.S163_splice	NM_145731.3	NP_663783.1			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCCTGGCAGAGCCTGACCGCA	0.662000													12	17					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380551	100380551	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:100380551C>T	ENST00000262233.6	+	14	1669	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	EML1_ENST00000334192.4_Silent_p.A529A|EML1_ENST00000327921.9_Silent_p.A498A	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	510						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGACAGTGGCCGAGGGGAAAG	0.453000													9	31					0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552407	58552407	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:58552407C>T	ENST00000394481.1	-	5	901	c.343G>A	c.(343-345)Gag>Aag	p.E115K	FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000474531.1_Missense_Mutation_p.E146K|FAM107A_ENST00000360997.2_Missense_Mutation_p.E115K|FAM107A_ENST00000447756.2_Missense_Mutation_p.E143K	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	115					regulation of cell growth	nucleus	protein binding	p.E115K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCTTCCTTCTCTGGTGGTTTT	0.537000													16	60					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161563	8161563	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:8161563G>A	ENST00000343202.4	-	2	367	c.302C>T	c.(301-303)cCa>cTa	p.P101L	RIC3_ENST00000309737.6_Missense_Mutation_p.P101L|RIC3_ENST00000425599.2_Missense_Mutation_p.P101L|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Missense_Mutation_p.P52L|RIC3_ENST00000419822.2_Missense_Mutation_p.P101L	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	101						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ACCGTAGATTGGAATAATCTG	0.408000													18	56					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054518	242054518	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:242054518G>A	ENST00000403638.3	-	14	3364	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F	PASK_ENST00000234040.4_Silent_p.F1091F|PASK_ENST00000405260.1_Silent_p.F1091F|PASK_ENST00000358649.4_Silent_p.F1091F|PASK_ENST00000544142.1_Silent_p.F905F|PASK_ENST00000539818.1_Silent_p.F875F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1091	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGATGAAAGCGAAGAGGTCTA	0.547000													50	15					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688775	60688775	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:60688775C>T	ENST00000335712.6	-	4	1499	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	BCL11A_ENST00000358510.4_Missense_Mutation_p.M390I|BCL11A_ENST00000356842.4_Missense_Mutation_p.M424I|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.M93I|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.M390I	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	424					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTGCGTCTTCATGTGGCGCT	0.652000			T	IGH@	B-CLL								37	29					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57961392	57961392	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:57961392G>A	ENST00000455537.2	+	8	979	c.705G>A	c.(703-705)ggG>ggA	p.G235G	KIF5A_ENST00000286452.5_Silent_p.G146G	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	235	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCTGGCAGGGAGTGAGAAGG	0.532000													9	39					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980156	120980156	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:120980156C>T	ENST00000392793.1	+	4	706	c.435C>T	c.(433-435)ttC>ttT	p.F145F	TECTA_ENST00000264037.2_Silent_p.F145F			O75443	TECTA_HUMAN	tectorin alpha	145	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTGGGTTTTCATTGTGACAT	0.438000													8	9					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484526	43484526	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:43484526G>A	ENST00000395891.1	+	11	2360	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	HECW1_ENST00000453890.1_Silent_p.A585A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	585					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGACGGCGCGGAGGAGGAGT	0.682000													13	43					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450954	70450954	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:70450954C>T	ENST00000327305.6	-	7	1484	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q|NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	276	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCGGCTGTTTCGACTGCCCTC	0.463000													50	44					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621162	8621162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:8621162C>T	ENST00000429646.2	+	9	3394	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	CPZ_ENST00000382480.2_Missense_Mutation_p.H456Y|CPZ_ENST00000360986.4_Missense_Mutation_p.H593Y|CPZ_ENST00000315782.6_Missense_Mutation_p.H582Y			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	593					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.H593Y(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAACTTTATTCATGGGCTGCG	0.637000													28	26					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058520	79058520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79058520G>A	ENST00000388820.4	-	19	3943	c.3733C>T	c.(3733-3735)Cct>Tct	p.P1245S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1245					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGCCAACAGGGGACAAAGGG	0.657000													5	40					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916182	131916182	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:131916182C>T	ENST00000286355.5	-	7	3839	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E583K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	583					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.E583K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTAAGTTTCGATATTATGC	0.483000										HNSCC(32;0.087)			16	77					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41094951	41094951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:41094951G>A	ENST00000372684.3	-	6	1035	c.566C>T	c.(565-567)tCc>tTc	p.S189F	RIMS3_ENST00000372683.1_Missense_Mutation_p.S189F	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	189	C2.				neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			ACCTGGGAGGGATTTGGAGCC	0.587000													77	53					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28919773	28919773	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28919773G>A	ENST00000257192.4	+	11	1684	c.1472G>A	c.(1471-1473)aGg>aAg	p.R491K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	491	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATGACGACAGGACTAATACA	0.333000													30	16					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926616	61926616	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:61926616C>T	ENST00000280772.1	-	22	2708	c.2517G>A	c.(2515-2517)acG>acA	p.T839T	ANK3_ENST00000373827.2_Silent_p.T833T|ANK3_ENST00000460468.1_Silent_p.T6T|ANK3_ENST00000503366.1_Silent_p.T822T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	839					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCATTCATCGTTTCTGGAA	0.333000													18	26					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25777909	25777909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:25777909C>T	ENST00000399878.3	-	17	2781	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E734K|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E852K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	887						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATGAACCTTCCAGGTAGGCA	0.413000													19	24					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11220068	11220068	+	Silent	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:11220068T>A	ENST00000409552.3	+	21	2789	c.2652T>A	c.(2650-2652)tcT>tcA	p.S884S	CLEC16A_ENST00000381822.2_Intron|CLEC16A_ENST00000409790.1_Intron	NM_001243403.1	NP_001230332.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	0								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGTCTTTCTCTCTGTGGAGCC	0.582000													4	12					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566006	142566006	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142566006G>A	ENST00000392957.2	+	14	2713	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	EPHB6_ENST00000442129.1_Silent_p.V642V|EPHB6_ENST00000411471.2_Silent_p.V365V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	642						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACTCGGGGTGAAGTATTACA	0.567000													20	78					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105795390	105795390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:105795390G>A	ENST00000393127.2	+	12	2188	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	GRIA4_ENST00000282499.5_Missense_Mutation_p.G581E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G581E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G581E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	581					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCAGAGGACGGAAAGGAAGGA	0.478000													13	27					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841609	154841609	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:154841609C>T	ENST00000271915.3	-	1	1147	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	283						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTTCTCTTTTCAAACAGGGCC	0.493000													24	64					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91445196	91445196	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:91445196C>T	ENST00000266719.3	-	3	1233	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	329					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GATTTCATTTCCATCCAGACG	0.433000													18	33					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927502	10927502	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:10927502G>A	ENST00000283141.6	+	17	1638	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	448						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAACATGGTGGAGTTTATGAG	0.433000													13	60					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977603	92977603	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:92977603C>T	ENST00000268164.3	+	3	525	c.288C>T	c.(286-288)atC>atT	p.I96I	ST8SIA2_ENST00000539113.1_Silent_p.I75I	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	96					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTCTGAGGATCAGGTACTGGT	0.453000													31	114					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811088	69811088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:69811088G>A	ENST00000251566.4	-	2	830	c.800C>T	c.(799-801)cCa>cTa	p.P267L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	267						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTGGTATGGTTGAGGAAA	0.368000													7	30					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33585423	33585423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:33585423G>A	ENST00000262873.7	+	30	3945	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1243						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGCCAACGTGGAGACTCTGAC	0.622000													20	29					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17630532	17630532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:17630532G>A	ENST00000336737.4	-	2	255	c.230C>T	c.(229-231)tCc>tTc	p.S77F	CECR5_ENST00000155674.5_Missense_Mutation_p.S47F|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	77							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGCCCCTGGGAGTTCACCAG	0.587000													46	102					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785433	151785433	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151785433G>A	ENST00000356728.6	-	8	1366	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.L479L|RORC_ENST00000318247.6_Silent_p.L425L	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	425	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCATTGATGAGAACAAGGG	0.512000													15	19					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978295	6978295	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:6978295C>T	ENST00000389658.3	-	43	6183	c.6090G>A	c.(6088-6090)gcG>gcA	p.A2030A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2030	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.A2030A(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCAGCCCCGCCACGTCCC	0.552000													32	19					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30862971	30862971	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:30862971C>T	ENST00000403066.1	-	7	623	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SEC14L3_ENST00000539629.1_Missense_Mutation_p.E114K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.E96K|SEC14L3_ENST00000415957.2_Missense_Mutation_p.E114K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.E96K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.E114K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.E173K			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	173	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTCCTTACCTCCTGGTACACT	0.502000													11	36					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123332963	123332963	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:123332963C>T	ENST00000360772.3	-	34	5959	c.5581G>A	c.(5581-5583)Gaa>Aaa	p.E1861K	MYLK_ENST00000354792.5_Missense_Mutation_p.E712K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1843K|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.E1912K|MYLK_ENST00000359169.1_Missense_Mutation_p.E1861K|MYLK_ENST00000418370.2_Missense_Mutation_p.E152K|MYLK_ENST00000583087.1_Missense_Mutation_p.E152K|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.E1912K|MYLK_ENST00000578202.1_Missense_Mutation_p.E151K			Q15746	MYLK_HUMAN	myosin light chain kinase	1912	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CACTCTTCTTCCTCTTCCCCT	0.408000													44	141					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:95013640C>T	ENST00000357742.4	+	20	2439	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_ENST00000451018.3_Silent_p.F758F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000													70	79					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922210	31922210	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31922210G>A	ENST00000375429.3	-	8	978	c.752C>T	c.(751-753)tCa>tTa	p.S251L	NELFE_ENST00000444811.2_Missense_Mutation_p.S221L|NELFE_ENST00000375425.5_Missense_Mutation_p.S258L	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		TTCAGGGAATGAATCCGACCC	0.483000													39	63					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680522	48680522	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48680522G>A	ENST00000352832.5	+	20	4434	c.4062G>A	c.(4060-4062)ctG>ctA	p.L1354L	CACNA1G_ENST00000503485.1_Silent_p.L1377L|CACNA1G_ENST00000512389.1_Silent_p.L1377L|CACNA1G_ENST00000514079.1_Silent_p.L1377L|CACNA1G_ENST00000416767.4_Silent_p.L1377L|CACNA1G_ENST00000507336.1_Silent_p.L1377L|CACNA1G_ENST00000510366.1_Silent_p.L1377L|CACNA1G_ENST00000510115.1_Silent_p.L1354L|CACNA1G_ENST00000358244.5_Silent_p.L1354L|CACNA1G_ENST00000507896.1_Silent_p.L1377L|CACNA1G_ENST00000507510.2_Silent_p.L1377L|CACNA1G_ENST00000502264.1_Silent_p.L1354L|CACNA1G_ENST00000507609.1_Silent_p.L1377L|CACNA1G_ENST00000359106.5_Silent_p.L1377L|CACNA1G_ENST00000515411.1_Silent_p.L1377L|CACNA1G_ENST00000505165.1_Silent_p.L1377L|CACNA1G_ENST00000513964.1_Silent_p.L1377L|CACNA1G_ENST00000515765.1_Silent_p.L1377L|CACNA1G_ENST00000354983.4_Silent_p.L1354L|CACNA1G_ENST00000442258.2_Silent_p.L1354L|CACNA1G_ENST00000515165.1_Silent_p.L1377L|CACNA1G_ENST00000514717.1_Silent_p.L1354L|CACNA1G_ENST00000514181.1_Silent_p.L1377L|CACNA1G_ENST00000429973.2_Silent_p.L1377L|CACNA1G_ENST00000360761.4_Silent_p.L1354L|CACNA1G_ENST00000513689.2_Silent_p.L1377L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1377					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCATGCTGAGGGTGCTGC	0.642000													16	49					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60348314	60348314	+	RNA	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:60348314C>A	ENST00000581291.1	-	0	544																				breast(2)|kidney(1)|lung(2)	5						TATATGCCTCCTTAATGTCCC	0.547000													25	240					9.85521e-28	1.00669e-27	1	1	0
SLCO1B7	338821	broad.mit.edu	37	12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:21168708G>A	ENST00000421593.2	+	1	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)									p.E27K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAAGCTTCGAAATAGGTAG	0.308000													4	15					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1084320	1084320	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1084320A>T	ENST00000441003.2	+	19	2479	c.2452A>T	c.(2452-2454)Aag>Tag	p.K818*	MUC2_ENST00000359061.5_Nonsense_Mutation_p.K818*	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	818						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTGGTGGAGAAGGAATGCCC	0.612000													4	19					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906695	38906695	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:38906695C>T	ENST00000359357.3	+	77	11541	c.11287C>T	c.(11287-11289)Ctc>Ttc	p.L3763F	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3980F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3727F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTTGTACTCCTCATGACCTT	0.383000													17	40					0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74922288	74922288	+	Missense_Mutation	SNP	G	G	A	rs143608308		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:74922288G>A	ENST00000284818.2	+	3	346	c.255G>A	c.(253-255)atG>atA	p.M85I	LY96_ENST00000518893.1_Missense_Mutation_p.M55I	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	85					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCAACACCATGAATCTTCCAA	0.343000													25	33					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587923	68587923	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:68587923G>A	ENST00000478136.1	+	4	766	c.276G>A	c.(274-276)ggG>ggA	p.G92G	FAM19A1_ENST00000496687.1_Silent_p.G92G	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	92				G -> W (in Ref. 3; CAD28501).		endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TAGTGATTGGGAAATGGTGGT	0.453000													12	43					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21437856	21437856	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:21437856G>A	ENST00000313654.9	+	33	4426	c.4185G>A	c.(4183-4185)ggG>ggA	p.G1395G	LAMA3_ENST00000399516.3_Silent_p.G1395G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1395	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCTTCCGGGTTTTACCGCT	0.502000													50	30					0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5415859	5415859	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:5415859T>C	ENST00000380433.3	+	2	404	c.176T>C	c.(175-177)tTc>tCc	p.F59S		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	59						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						AAGAGGAGCTTCCACTACCTG	0.597000													9	21					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14882146	14882146	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:14882146C>T	ENST00000378372.3	+	3	450	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	HSPA14_ENST00000437161.2_Silent_p.L71L|HSPA14_ENST00000493863.1_3'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	71					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAAGCAGATCCTGGGCAGAAG	0.264000													7	21					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139958	40139958	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40139958G>A	ENST00000325157.6	-	7	1800	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	517										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATTTTGGGTGGAAAACTCCCC	0.408000													10	33					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638969	72638969	+	Missense_Mutation	SNP	G	G	A	rs151251788	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:72638969G>A	ENST00000268097.5	-	11	1732	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.A237V|HEXA_ENST00000567159.1_Missense_Mutation_p.A410V|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.A421V|HEXA_ENST00000457859.2_Intron	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	410					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCGGAAGCCGGCCTTGGTGAC	0.498000													153	356					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140668	56140668	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:56140668C>T	ENST00000319441.4	+	10	1841	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	PCK1_ENST00000543666.1_Silent_p.P242P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	559					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCTACATCCCCAAGGAGGATG	0.547000													20	10					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273726	124273726	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:124273726G>A	ENST00000368984.3	+	9	1422	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	432	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAAGGAAAACGACGTCATAAT	0.502000													46	191					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733920	6733920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:6733920G>A	ENST00000264080.7	-	7	580	c.554C>T	c.(553-555)cCt>cTt	p.P185L	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	185						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTTCCCACTAGGACCCTGAAG	0.627000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028623	27028623	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:27028623C>A	ENST00000314616.6	+	37	5444	c.5161C>A	c.(5161-5163)Ctg>Atg	p.L1721M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.L1721M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1721					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CACCCCACTCCTGGACGAGAT	0.652000													10	38					2.74318e-10	2.77735e-10	1	1	0
PRDM1	639	broad.mit.edu	37	6	106553132	106553132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:106553132G>A	ENST00000369096.4	+	5	1331	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	PRDM1_ENST00000369089.3_Missense_Mutation_p.G232D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G330D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	366					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GTGGGCCCCGGCTCTCAAGAG	0.647000			"""D, N, Mis, F, S"""		DLBCL								13	21					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542401	55542401	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:55542401G>A	ENST00000220676.1	+	4	6107	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1987					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D1987Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCCATTGGTGATATATTTGA	0.313000													13	19					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868018	7868018	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7868018C>T	ENST00000345088.2	+	2	439	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGGCGGAGTTCGTACGGTATG	0.483000													11	30					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44298504	44298504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:44298504G>A	ENST00000395749.2	-	4	318	c.242C>T	c.(241-243)tCc>tTc	p.S81F	CAMK2B_ENST00000258682.6_Missense_Mutation_p.S81F|CAMK2B_ENST00000457475.1_Missense_Mutation_p.S81F|CAMK2B_ENST00000353625.4_Missense_Mutation_p.S81F|CAMK2B_ENST00000358707.3_Missense_Mutation_p.S81F|CAMK2B_ENST00000440254.2_Missense_Mutation_p.S81F|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Missense_Mutation_p.S81F|CAMK2B_ENST00000347193.4_Missense_Mutation_p.S81F|CAMK2B_ENST00000346990.4_Missense_Mutation_p.S81F|CAMK2B_ENST00000350811.3_Missense_Mutation_p.S81F	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	81	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GCCCTCCTCGGAGATGCTGTC	0.612000													3	26					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637606	17637606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:17637606G>A	ENST00000262077.2	-	16	2241	c.2242C>T	c.(2242-2244)Ccg>Tcg	p.P748S	NUP153_ENST00000537253.1_Missense_Mutation_p.P779S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	748					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCAGGTTTCGGTGTTTCACAG	0.433000													36	165					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300842	62300842	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:62300842G>A	ENST00000378024.4	-	5	1321	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	349					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGGGCTTGGATAGTCAAGC	0.597000													31	39					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43382152	43382152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43382152C>T	ENST00000244296.2	-	2	480	c.343G>A	c.(343-345)Gag>Aag	p.E115K	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.E115K|PSG1_ENST00000595124.1_Missense_Mutation_p.E115K|PSG1_ENST00000595356.1_Missense_Mutation_p.E115K|PSG1_ENST00000436291.2_Missense_Mutation_p.E115K|PSG1_ENST00000312439.6_Missense_Mutation_p.E115K	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCTGCGTCCTCCCGGGTGACA	0.453000													61	135					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114193659	114193659	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114193659C>T	ENST00000369615.1	+	14	2333	c.2271C>T	c.(2269-2271)ccC>ccT	p.P757P	MAGI3_ENST00000369611.4_Silent_p.P757P|MAGI3_ENST00000307546.9_Silent_p.P757P|MAGI3_ENST00000369617.4_Silent_p.P782P	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	782	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		CTATTATTCCCCTGGGAGCAG	0.413000													9	37					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33143390	33143390	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33143390C>T	ENST00000341947.2	-	30	2564	c.2337G>A	c.(2335-2337)ccG>ccA	p.P779P	COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000395197.1_Silent_p.P719P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000374708.4_Silent_p.P693P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	779	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCTCCAGTCGGTCCAGTGC	0.647000													23	98					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585182	158585182	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158585182C>T	ENST00000368148.3	-	48	6792	c.6612G>A	c.(6610-6612)aaG>aaA	p.K2204K	SPTA1_ENST00000368147.3_Silent_p.K2201K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2204					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGGATCTCCTTCTGTTTTC	0.458000													34	100					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90429700	90429700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:90429700C>T	ENST00000335725.4	+	3	492	c.242C>T	c.(241-243)tCc>tTc	p.S81F	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.S81F|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Missense_Mutation_p.S81F|TDP1_ENST00000393452.3_Missense_Mutation_p.S81F	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	81					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AAAAGCGGTTCCCAGGAGGAC	0.488000								Repair of DNA-protein crosslinks					57	41					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065902	40065902	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:40065902G>A	ENST00000352035.2	-	5	527	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	ACLY_ENST00000590151.1_Silent_p.L133L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.L133L|ACLY_ENST00000393896.2_Silent_p.L133L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	133					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTGGAACAGGACGTAGTCC	0.572000													8	57					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951203	119951203	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:119951203G>A	ENST00000307142.4	+	4	1469	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E425K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E425K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	425	Poly-Glu.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGACGAGGAGGAAGAAGGTGA	0.507000													17	36					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662653	49662653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49662653C>T	ENST00000296452.4	+	2	584	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	157					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACCCTACTCCGTCCCTCAG	0.637000													13	45					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197193	44197193	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:44197193C>T	ENST00000393841.1	+	4	587	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SLC29A1_ENST00000393844.1_Silent_p.F32F|SLC29A1_ENST00000371713.1_Silent_p.F32F|SLC29A1_ENST00000371708.1_Silent_p.F32F|SLC29A1_ENST00000371755.3_Silent_p.F32F|SLC29A1_ENST00000371740.5_Silent_p.F32F|SLC29A1_ENST00000371724.1_Silent_p.F32F|SLC29A1_ENST00000313248.7_Silent_p.F111F|SLC29A1_ENST00000371731.1_Silent_p.F32F|SLC29A1_ENST00000427851.2_Silent_p.F32F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	32					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GGAATTTTTTCATGACGGCCA	0.552000													38	42					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916465	13916465	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:13916465A>G	ENST00000285018.4	-	2	581	c.277T>C	c.(277-279)Ttc>Ctc	p.F93L	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	93					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCTTCCCGAAGACGGTGCGC	0.577000													5	23					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91793242	91793242	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:91793242G>A	ENST00000375835.4	-	1	440	c.134C>T	c.(133-135)cCc>cTc	p.P45L	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	45					central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CACCAAGTAGGGAgccgccgc	0.697000													11	12					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639034	32639034	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:32639034G>A	ENST00000286827.3	-	5	726	c.255C>T	c.(253-255)ttC>ttT	p.F85F	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.F85F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGGGCTCCCGAAGTCTTCTA	0.592000													15	62					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410522	5410522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:5410522G>A	ENST00000399537.4	-	11	4051	c.3703C>T	c.(3703-3705)Cgg>Tgg	p.R1235W	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1235W			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1235							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTTCTGTCCGGCCCGGGGAA	0.697000													14	35					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274757	114274757	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:114274757G>A	ENST00000357077.4	+	38	5036	c.4983G>A	c.(4981-4983)aaG>aaA	p.K1661K	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.K1628K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1628					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAAGATAAGGCAGGGAAGA	0.478000													12	38					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391598	139391598	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139391598G>A	ENST00000277541.6	-	34	6668	c.6593C>T	c.(6592-6594)tCg>tTg	p.S2198L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2198					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCACGGGCGAGAGCATGCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	79					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060300	16060300	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:16060300C>T	ENST00000375799.3	+	20	3158	c.2931C>T	c.(2929-2931)ctC>ctT	p.L977L	PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.L957L|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	977					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGTGGACCTCCCCCACACGG	0.632000													16	94					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562081	52562081	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52562081G>A	ENST00000307076.4	-	7	1069	c.669C>T	c.(667-669)atC>atT	p.I223I	NT5DC2_ENST00000422318.2_Silent_p.I260I|NT5DC2_ENST00000459839.1_Silent_p.I235I|NT5DC2_ENST00000307092.4_Silent_p.I164I	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	223							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GCACGTCTCGGATGGCGTCCT	0.632000													4	19					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70896075	70896075	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:70896075C>T	ENST00000393567.2	-	69	11803	c.11653G>A	c.(11653-11655)Ggt>Agt	p.G3885S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3885										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTGGGGAACCCTCGGCCCAG	0.557000													3	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070319	9070319	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9070319G>A	ENST00000397910.4	-	3	17330	c.17127C>T	c.(17125-17127)gcC>gcT	p.A5709A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5711	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGCATGCATGGCTTCTGTGT	0.507000													12	29					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541065	31541065	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31541065C>T	ENST00000454783.1	+	4	471	c.213C>T	c.(211-213)ccC>ccT	p.P71P	LTA_ENST00000418386.2_Silent_p.P71P	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	71					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TAGGAGACCCCAGCAAGCAGA	0.562000													23	34					0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5086943	5086943	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:5086943G>A	ENST00000379286.2	-	4	533	c.113C>T	c.(112-114)cCt>cTt	p.P38L	TMEM230_ENST00000342308.5_Missense_Mutation_p.P101L|TMEM230_ENST00000202834.7_Missense_Mutation_p.P38L|TMEM230_ENST00000379277.2_Missense_Mutation_p.P38L|TMEM230_ENST00000379283.2_Missense_Mutation_p.P38L|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379279.2_Missense_Mutation_p.P38L	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	38						integral to membrane											GATCTTAGGAGGGGTTTTCTT	0.383000													11	18					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124936863	124936863	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:124936863G>A	ENST00000536616.1	+	4	434	c.396G>A	c.(394-396)acG>acA	p.T132T	MORN5_ENST00000373764.3_Silent_p.T132T|MORN5_ENST00000486801.1_3'UTR			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	132										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						ACCCAGTCACGAGGGTAGTCA	0.468000													29	39					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2706605	2706605	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2706605C>T	ENST00000480911.1	+	21	2821	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Silent_p.I932I|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Silent_p.I932I|CACNA1C_ENST00000327702.7_Silent_p.I932I|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000347598.4_Silent_p.I952I|CACNA1C_ENST00000399601.1_Silent_p.I932I|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399606.1_Silent_p.I952I|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399644.1_Silent_p.I932I|CACNA1C_ENST00000399591.1_Silent_p.I932I|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.I932I|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000406454.3_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	952					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTTTTCAGATCCTAGGCAATG	0.443000													11	29					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876690	38876690	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38876690C>T	ENST00000334928.6	-	3	1344	c.1212G>A	c.(1210-1212)cgG>cgA	p.R404R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	404	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGCGGGCCTCCGGGGCCCGG	0.726000													5	6					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128918	68128918	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:68128918G>A	ENST00000585558.1	+	4	1183	c.795G>A	c.(793-795)agG>agA	p.R265R	KCNJ16_ENST00000392670.1_Silent_p.R230R|KCNJ16_ENST00000586462.1_Silent_p.R269R|KCNJ16_ENST00000392671.1_Silent_p.R230R|KCNJ16_ENST00000589377.1_Silent_p.R230R|KCNJ16_ENST00000283936.1_Silent_p.R230R			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	230					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTGAAGGGAGGATGACGATGG	0.473000													21	76					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390148	158390148	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158390148G>A	ENST00000314902.2	-	1	508	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S170F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGATTGGAGGAATAAAAAGG	0.473000													10	68					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101844896	101844896	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:101844896C>T	ENST00000360264.3	+	18	2372	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.A717A|CUX1_ENST00000549414.2_Silent_p.A751A|CUX1_ENST00000556210.1_Silent_p.A615A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Silent_p.A773A|CUX1_ENST00000546411.2_Silent_p.A671A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	773					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTCCTGAGGCCGGTGCCTCTG	0.682000													36	145					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416363	54416363	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:54416363G>A	ENST00000296733.1	-	10	1405	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.P411S	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	411										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GACTGCCAGGGACACCAATCC	0.488000													13	61					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121342001	121342001	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121342001C>T	ENST00000338040.4	+	3	2139	c.1725C>T	c.(1723-1725)agC>agT	p.S575S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	575	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTTTAACCAGCCTGCCCCTGG	0.522000													21	65					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528646	9528646	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:9528646C>T	ENST00000281419.3	+	22	2694	c.2354C>T	c.(2353-2355)cCc>cTc	p.P785L	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.P785L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	785	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCAGCGCCCCCCCGCTTCCT	0.577000													25	17					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9490067	9490067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9490067C>T	ENST00000352665.5	+	3	392	c.323C>T	c.(322-324)tCc>tTc	p.S108F	WDR16_ENST00000396219.3_Missense_Mutation_p.S40F|WDR16_ENST00000299764.5_Missense_Mutation_p.S118F	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	108						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTCGGCTGTCCCTTCACAAA	0.453000													13	15					0	0	1	0	0
GPR42	2866	broad.mit.edu	37	19	35863100	35863100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:35863100C>T	ENST00000454971.1	+	2	1040	c.839C>T	c.(838-840)tCc>tTc	p.S280F	GPR42_ENST00000597214.1_Missense_Mutation_p.S280F					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TACTTCTCCTCCTCCGGGTTC	0.582000													16	11					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157162	4157162	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:4157162C>T	ENST00000078445.2	+	3	474	c.327C>T	c.(325-327)tcC>tcT	p.S109S	CREB3L3_ENST00000252587.3_Silent_p.S99S|CREB3L3_ENST00000602147.1_Silent_p.S109S|CREB3L3_ENST00000602257.1_Silent_p.S109S|CREB3L3_ENST00000595923.1_Silent_p.S108S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	109					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCACCTCCCCCGCCGGCT	0.672000													21	51					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377854	77377854	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:77377854T>C	ENST00000451710.3	-	26	3970	c.3733A>G	c.(3733-3735)Act>Gct	p.T1245A	TRPM6_ENST00000449912.2_Missense_Mutation_p.T1240A|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1245A|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1240A|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1245A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1245					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTTGCAAGTAGAATGCTTT	0.483000													29	27					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30950052	30950052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:30950052G>A	ENST00000383096.3	-	6	492	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q104*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q104*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q104*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q104*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q104*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q104*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q104*					coiled-coil domain containing 178																		TCCACATCTTGGATGTGTGAA	0.393000													9	27					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30689246	30689246	+	Missense_Mutation	SNP	C	C	T	rs17093828		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:30689246C>T	ENST00000534862.1	+	14	1808	c.1445C>T	c.(1444-1446)cCg>cTg	p.P482L	HCK_ENST00000518730.1_Missense_Mutation_p.P480L|HCK_ENST00000375852.2_Missense_Mutation_p.P502L|HCK_ENST00000520553.1_Missense_Mutation_p.P481L|HCK_ENST00000375862.2_Missense_Mutation_p.P501L|HCK_ENST00000538448.1_Missense_Mutation_p.P481L	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	502	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGAGCGGCCGACCTTCGAA	0.592000													10	26					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713107	70713107	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:70713107G>A	ENST00000530196.1	-	0	1411					NR_003951.1																						CTGCTGTACGGATCCACAGTC	0.483000													12	14					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5966815	5966815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:5966815G>A	ENST00000531445.1	-	6	1983	c.1937C>T	c.(1936-1938)tCa>tTa	p.S646L	C4orf50_ENST00000324058.5_Missense_Mutation_p.S172L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	172										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCAGGACTCTGAAGACAATGA	0.507000													18	19					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073052	15073052	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15073052C>T	ENST00000598504.1	-	8	2056	c.697G>A	c.(697-699)Gga>Aga	p.G233R	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G169R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G233R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G233R|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G233R	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	233					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AAGCTGGTTCCGTTCTCCACT	0.592000													22	46					0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748474	43748474	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:43748474C>T	ENST00000523677.1	-	3	557	c.324G>A	c.(322-324)agG>agA	p.R108R	C1orf210_ENST00000423420.1_Silent_p.R108R	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	108						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAAGTGGTCCCTGCTACCCT	0.572000													35	26					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934077	69934077	+	Missense_Mutation	SNP	C	C	A	rs138583865	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:69934077C>A	ENST00000358913.5	+	11	2716	c.2228C>A	c.(2227-2229)cCg>cAg	p.P743Q	MYPN_ENST00000354393.2_Missense_Mutation_p.P468Q|MYPN_ENST00000540630.1_Missense_Mutation_p.P743Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	743						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCCAGCTCTCCGGTGTTCACT	0.537000													29	81					8.16721e-17	8.31906e-17	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142575001	142575001	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142575001G>A	ENST00000359396.3	-	4	626	c.381C>T	c.(379-381)aaC>aaT	p.N127N	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	127					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCATGTTCTGGTTCACAACAG	0.617000													19	93					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312187	99312187	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99312187C>T	ENST00000336374.2	-	8	791	c.789G>A	c.(787-789)gaG>gaA	p.E263E		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	263					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCTTTTGTGTCTCTTTGAGGC	0.323000													31	55					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216371671	216371671	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:216371671C>T	ENST00000366943.2	-	18	4453	c.4067G>A	c.(4066-4068)aGa>aAa	p.R1356K	USH2A_ENST00000366942.3_Missense_Mutation_p.R1356K|USH2A_ENST00000307340.3_Missense_Mutation_p.R1356K|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1356	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCCCGTTCTTTCTGAGAC	0.393000										HNSCC(13;0.011)			36	40					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11172495	11172495	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:11172495C>T	ENST00000221086.3	+	7	1508	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	MTMR9_ENST00000526292.1_Silent_p.S260S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	345	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AGGTGACCTCCTTGGCCCAGA	0.468000													22	50					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001416	11001416	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:11001416G>A	ENST00000324288.8	+	11	2200	c.2067G>A	c.(2065-2067)gcG>gcA	p.A689A	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	689	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGACCTGGGCGATGGCCAAAG	0.657000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								42	46					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574695	53574695	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:53574695G>A	ENST00000342160.3	-	67	11032	c.10575C>T	c.(10573-10575)acC>acT	p.T3525T	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Silent_p.T3525T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3525	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTACGACAATGGTGGAAATAG	0.582000													6	2					0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97452723	97452723	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:97452723G>A	ENST00000265993.8	-	3	696	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TCTN3_ENST00000371209.5_Silent_p.F151F|TCTN3_ENST00000371217.4_Silent_p.F169F|TCTN3_ENST00000430368.1_Silent_p.F151F	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	151					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TAGAATCCATGAAAACTCTTG	0.398000													9	20					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566214	27566214	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:27566214G>A	ENST00000359541.2	-	2	637	c.208C>T	c.(208-210)Cct>Tct	p.P70S	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P70S			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	70						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCTGGAGGGAGCCTCCTC	0.488000													40	105					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956512	99956512	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99956512C>T	ENST00000310771.4	+	16	2760	c.264C>T	c.(262-264)tcC>tcT	p.S88S	PILRB_ENST00000452089.1_Silent_p.S88S|PILRB_ENST00000444874.1_Intron|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444073.1_Silent_p.S88S			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	88	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCGCCTTCCATTCACAAGG	0.547000													14	120					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004366	145004366	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:145004366G>A	ENST00000322810.4	-	21	3138	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F	PLEC_ENST00000354958.2_Missense_Mutation_p.S831F|PLEC_ENST00000436759.2_Missense_Mutation_p.S880F|PLEC_ENST00000345136.3_Missense_Mutation_p.S853F|PLEC_ENST00000356346.3_Missense_Mutation_p.S839F|PLEC_ENST00000527096.1_Missense_Mutation_p.S876F|PLEC_ENST00000398774.2_Missense_Mutation_p.S821F|PLEC_ENST00000357649.2_Missense_Mutation_p.S857F|PLEC_ENST00000354589.3_Missense_Mutation_p.S853F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	990	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAAGCACACGGAGGGCACGGC	0.721000													4	12					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302413	110302413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:110302413C>T	ENST00000369805.3	-	4	371	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E48K|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E48K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	48						cytoplasm	protein binding	p.E48*(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AAGGCATCCTCGGGCCCCTGG	0.612000													5	39					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417184	63417184	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:63417184C>T	ENST00000322893.7	-	7	1304	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A288T|KCNH5_ENST00000394964.2_Missense_Mutation_p.A288T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A346T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	346					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGACTGCTGCTCCATATTCT	0.512000													48	15					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331446	55331446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55331446C>T	ENST00000391728.4	+	4	667	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P212S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P117S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P212S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P212S|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P212S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCCAGTGATCCCCTGGACAT	0.527000													15	62					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304772	117304772	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:117304772C>T	ENST00000003084.6	+	25	4126	c.3994C>T	c.(3994-3996)Cct>Tct	p.P1332S	CFTR_ENST00000454343.1_Missense_Mutation_p.P1271S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1332	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGAACAGTTTCCTGGGAAGCT	0.448000									Cystic Fibrosis				28	51					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485230	5485230	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:5485230C>T	ENST00000345221.3	-	3	1155	c.601G>A	c.(601-603)Gct>Act	p.A201T	NLRP1_ENST00000577119.1_Missense_Mutation_p.A201T|NLRP1_ENST00000354411.3_Missense_Mutation_p.A201T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.A201T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A201T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A201T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	201					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCCCAGGAGCCTCCTGCTCT	0.617000													13	49					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48736523	48736523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:48736523G>A	ENST00000314191.2	-	65	8871	c.8815C>T	c.(8815-8817)Cgt>Tgt	p.R2939C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2939C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2940	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.R2940C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAATCCCACGGAGGACGTCG	0.363000								Non-homologous end-joining					9	39					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166058	193166058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:193166058C>T	ENST00000342695.4	-	18	2411	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E678K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	697					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTGTCTCTTCCTTCAATCGA	0.388000													5	45					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266381	43266381	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43266381G>A	ENST00000372585.5	+	1	380	c.285G>A	c.(283-285)ggG>ggA	p.G95G	SLC22A7_ENST00000372589.3_Silent_p.G95G|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Silent_p.G95G	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	95						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCACGTTGGGGGAAGAAAGGC	0.617000													7	27					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81061902	81061902	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:81061902C>T	ENST00000334512.5	+	18	2630	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	686					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCGGCCCTCCGTCCGCTCTG	0.647000													34	158					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020801	90020801	+	Silent	SNP	G	G	A	rs146417060	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90020801G>A	ENST00000268122.4	-	7	1127	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	RHCG_ENST00000544600.1_Silent_p.I353I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	353					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.I353I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CAGCACCCACGATGCCGCCTA	0.577000													12	100					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958758	49958758	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:49958758C>T	ENST00000376056.2	-	5	729	c.579G>A	c.(577-579)caG>caA	p.Q193Q	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.Q202Q|AKAP4_ENST00000376064.3_Silent_p.Q193Q|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	202					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.Q202H(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGACTGCTCTCTGAGTGCTAG	0.443000													90	23					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588678	20588678	+	RNA	SNP	C	C	T	rs77996677		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:20588678C>T	ENST00000428453.1	-	0	4072																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTAGTTCTTCTTCTCCAAAA	0.333000													11	61					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558261	11558261	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11558261C>T	ENST00000252455.2	+	11	1193	c.857C>T	c.(856-858)cCc>cTc	p.P286L	PRKCSH_ENST00000412601.1_Missense_Mutation_p.P286L|PRKCSH_ENST00000592741.1_Missense_Mutation_p.P286L|PRKCSH_ENST00000591462.1_Missense_Mutation_p.P286L|PRKCSH_ENST00000587327.1_Missense_Mutation_p.P286L|PRKCSH_ENST00000589838.1_Missense_Mutation_p.P286L	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	286	EF-hand 2.				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						CAGGCACTGCCCACCGACCTT	0.672000													5	17					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61005156	61005156	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:61005156C>T	ENST00000373880.4	+	5	1200	c.936C>T	c.(934-936)acC>acT	p.T312T	PHYHIPL_ENST00000373878.3_Silent_p.T286T	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	312										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AATTTTTGACCTGTACAGAAG	0.428000													21	22					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36301446	36301446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:36301446C>T	ENST00000296604.3	-	1	558	c.73G>A	c.(73-75)Gag>Aag	p.E25K	RANBP3L_ENST00000502994.1_Missense_Mutation_p.E25K|RANBP3L_ENST00000515759.1_Missense_Mutation_p.E25K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	25					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CGCCGGTCCTCCTGCAGCTTC	0.527000													83	68					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601499	123601499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:123601499G>A	ENST00000336139.4	-	3	460	c.98C>T	c.(97-99)tCt>tTt	p.S33F	ZNF202_ENST00000530393.1_Missense_Mutation_p.S33F|ZNF202_ENST00000529691.1_Missense_Mutation_p.S33F			O95125	ZN202_HUMAN	zinc finger protein 202	33					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGTAAGACAGACTCTGGCCG	0.537000													17	27					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127393292	127393292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:127393292C>T	ENST00000232744.8	+	2	201	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	ABTB1_ENST00000453791.2_Intron|ABTB1_ENST00000468137.1_Intron|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000466612.1_3'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	39						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGACAGCACCCCCTTGTGAGT	0.622000													14	8					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022160	34022160	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:34022160C>T	ENST00000374372.1	-	4	1556	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R	GDF5OS_ENST00000374375.1_Silent_p.S68S|GDF5_ENST00000374369.3_Silent_p.R351R			P43026	GDF5_HUMAN	growth differentiation factor 5	351					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AGAACAGGTCCCGTTTCTTGG	0.642000													68	87					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100443867	100443867	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:100443867A>T	ENST00000395996.1	+	22	3296	c.3185A>T	c.(3184-3186)aAt>aTt	p.N1062I	VPS13B_ENST00000357162.2_Missense_Mutation_p.N1062I|VPS13B_ENST00000358544.2_Missense_Mutation_p.N1062I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1062					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGTTTGGAATGCAGTGAAG	0.328000													9	32					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795105	91795105	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91795105G>A	ENST00000394232.1	+	3	978	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SV2B_ENST00000330276.4_Missense_Mutation_p.D170N|SV2B_ENST00000545111.2_Missense_Mutation_p.D19N|SV2B_ENST00000557291.1_3'UTR	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	170					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGGCCTGGCTGATAAGCTGGG	0.552000													9	153					0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76173582	76173582	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:76173582C>T	ENST00000317593.4	+	4	457	c.225C>T	c.(223-225)ttC>ttT	p.F75F	S100Z_ENST00000513010.1_Silent_p.F75F	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	75	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TTAATGAATTCGTGGTCATGG	0.378000													19	38					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067341	66067341	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:66067341C>T	ENST00000349533.6	+	9	1446	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	LEPR_ENST00000344610.8_Missense_Mutation_p.R421C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R421C|LEPR_ENST00000371059.3_Missense_Mutation_p.R421C|LEPR_ENST00000371060.3_Missense_Mutation_p.R421C|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	421	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGCCATCATCGCTATGCTGA	0.358000													8	30					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520820	131520820	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:131520820C>T	ENST00000423981.1	+	2	1285	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	AMER3_ENST00000321420.4_Missense_Mutation_p.S392L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GATTCCTTCTCGCCAGGACTT	0.622000													22	10					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348330	30348330	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:30348330C>T	ENST00000327564.7	+	1	307	c.246C>T	c.(244-246)ctC>ctT	p.L82L	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Silent_p.L67L|LRRC37B_ENST00000341671.7_Silent_p.L55L|LRRC37B_ENST00000394713.3_Silent_p.L55L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	55						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CCTCCCATCTCCCATGGGAAT	0.647000													21	86					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35690558	35690558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:35690558G>A	ENST00000373664.3	-	8	1078	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	RBL1_ENST00000344359.3_Missense_Mutation_p.R338C	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	338					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)				GGGGTGTCACGAGTGAACTTT	0.428000													8	39					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524464	112524464	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:112524464G>A	ENST00000369697.1	-	1	954	c.885C>T	c.(883-885)ttC>ttT	p.F295F	KCND3_ENST00000302127.4_Silent_p.F295F|KCND3_ENST00000315987.2_Silent_p.F295F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	295						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGAAGATCCTGAAGACGCGGA	0.592000													9	30					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981430	70981430	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70981430C>T	ENST00000276594.2	-	2	867	c.666G>A	c.(664-666)gcG>gcA	p.A222A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCCTGAAATCGCATGGTGCA	0.612000													22	87					0	0	1	0	0
TMED2	10959	broad.mit.edu	37	12	124071410	124071410	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:124071410C>T	ENST00000262225.3	+	2	403	c.297C>T	c.(295-297)tcC>tcT	p.S99S	TMED2_ENST00000509052.2_Silent_p.S14S	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	99	GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		ACCGGATGTCCACCATGACTC	0.388000													15	36					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070274	35070274	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:35070274C>T	ENST00000382002.5	-	7	1063	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.G213R|PRLR_ENST00000511486.1_Missense_Mutation_p.G112R|PRLR_ENST00000542609.1_Missense_Mutation_p.G213R|PRLR_ENST00000397391.3_Missense_Mutation_p.G142R|PRLR_ENST00000513753.1_Missense_Mutation_p.G213R|PRLR_ENST00000310101.5_Missense_Mutation_p.G213R|PRLR_ENST00000231423.3_Missense_Mutation_p.G213R|PRLR_ENST00000342362.5_Missense_Mutation_p.G112R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	213	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCCAGTATCCATGGTCTGGT	0.448000													10	38					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102266332	102266332	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:102266332C>T	ENST00000369138.1	+	9	1781	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	GRIK2_ENST00000413795.1_Missense_Mutation_p.R431C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R431C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R431C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R431C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R382C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	431					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTATCCAATCGTTCTTTGAT	0.368000													6	8					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40775636	40775636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40775636C>T	ENST00000372748.3	-	16	916	c.820G>A	c.(820-822)Ggc>Agc	p.G274S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	274	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGCTCGGCCTGGCGGTCCC	0.627000													22	105					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230202	110230202	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110230202G>A	ENST00000418703.2	-	11	1951	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	TRPV4_ENST00000544971.1_Silent_p.L512L|TRPV4_ENST00000536838.1_Silent_p.L585L|TRPV4_ENST00000346520.2_Silent_p.L559L|TRPV4_ENST00000537083.1_Silent_p.L559L|TRPV4_ENST00000392719.2_Silent_p.L572L|TRPV4_ENST00000261740.2_Silent_p.L619L|TRPV4_ENST00000541794.1_Silent_p.L572L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	619					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCAAGTAGACGAGCAGGAATC	0.537000													4	15					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48369807	48369807	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:48369807C>T	ENST00000367574.4	+	3	553	c.48C>T	c.(46-48)ttC>ttT	p.F16F	PORCN_ENST00000359882.4_Silent_p.F87F|PORCN_ENST00000537758.1_Silent_p.F87F|PORCN_ENST00000355961.4_Silent_p.F87F|PORCN_ENST00000361988.3_Silent_p.F87F|PORCN_ENST00000326194.6_Silent_p.F87F|PORCN_ENST00000355092.3_Silent_p.F87F			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	87	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGTGCTGTTCCTCTGCCGAC	0.552000											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	130	19					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104264044	104264044	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:104264044C>T	ENST00000369902.3	+	1	301	c.135C>T	c.(133-135)taC>taT	p.Y45Y	SUFU_ENST00000369899.2_Silent_p.Y45Y|SUFU_ENST00000423559.2_Silent_p.Y45Y	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	45					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCGCCTTTACCCTGACCAGC	0.687000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				12	48					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25868580	25868580	+	Silent	SNP	C	C	T	rs148170965		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:25868580C>T	ENST00000397060.4	-	2	145	c.36G>A	c.(34-36)agG>agA	p.R12R	SLC17A3_ENST00000360657.3_Silent_p.R12R|SLC17A3_ENST00000361703.6_Silent_p.R12R	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	12					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TCTTGCTCTCCCTTGCTGTGG	0.438000													11	29					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9729409	9729409	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9729409C>T	ENST00000262441.5	+	1	542	c.29C>T	c.(28-30)cCt>cTt	p.P10L	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	10					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGGGCAGGGCCTGGGAGAGGA	0.642000													11	2					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9785284	9785284	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:9785284C>A	ENST00000383829.2	+	8	2738	c.2334C>A	c.(2332-2334)gtC>gtA	p.V778V	BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000457855.1_Silent_p.V772V|BRPF1_ENST00000433861.2_Silent_p.V772V|BRPF1_ENST00000424362.1_Silent_p.V771V|BRPF1_ENST00000302054.3_Silent_p.V772V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	772	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCGGCTGGTCTTGCTGGAGA	0.607000													10	53					5.50884e-06	5.54847e-06	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113166749	113166749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113166749G>A	ENST00000401783.2	-	39	9860	c.9524C>T	c.(9523-9525)tCc>tTc	p.S3175F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S3152F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S1101F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3175	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGACTGCAGGAGATTCTCTC	0.428000													88	118					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38466582	38466582	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:38466582G>A	ENST00000356264.2	-	15	1402	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	AMPH_ENST00000428293.2_Missense_Mutation_p.S396F|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.S396F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	396					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGAACCACCAGAAGCCTAAAC	0.333000													7	27					0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72195290	72195290	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:72195290C>T	ENST00000287139.3	-	2	642	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	AC022532.1_ENST00000420338.2_Silent_p.F79F	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	215					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CTCTCGGCTTCCCACAGCAAG	0.647000													12	33					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:71101260C>T	ENST00000393567.2	-	15	2158	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	670										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGCCAGCTCGTATTTCTGC	0.527000													8	31					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089078	43089078	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:43089078G>A	ENST00000359467.3	-	5	1434	c.1320C>T	c.(1318-1320)ccC>ccT	p.P440P	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AACATTCATAGGGTTTCTGCC	0.403000													17	54					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558185	140558185	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140558185G>A	ENST00000239444.2	+	1	815	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		190	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.502000													9	56					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295225	10295225	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10295225A>G	ENST00000403437.2	-	39	5732	c.5638T>C	c.(5638-5640)Tca>Cca	p.S1880P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1880					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTTGTATGATTTCACCTTC	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				69	30					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951412	10951412	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:10951412G>A	ENST00000298232.7	-	9	613	c.246C>T	c.(244-246)ttC>ttT	p.F82F	TPTE_ENST00000342420.5_Silent_p.F62F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.F100F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	100					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAAGACCAGGAAAACTCCAA	0.333000													9	73					0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72195291	72195291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:72195291C>T	ENST00000287139.3	-	2	641	c.642G>A	c.(640-642)tgG>tgA	p.W214*	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P80S	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	214					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TCTCGGCTTCCCACAGCAAGG	0.647000													12	33					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483048	12483048	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:12483048G>A	ENST00000535902.1	-	4	1772	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	MANSC1_ENST00000545735.1_Silent_p.L322L|MANSC1_ENST00000396349.3_Silent_p.L369L			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	403						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTCTACCCAGGAGGACGAGGC	0.483000													8	21					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513167	99513167	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513167G>A	ENST00000261037.3	+	5	802	c.422G>A	c.(421-423)gGg>gAg	p.G141E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G141E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	141	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CCAGGTCATGGGATACCTGGA	0.567000													3	19					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103573050	103573050	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:103573050G>A	ENST00000285402.3	+	2	847	c.691G>A	c.(691-693)Gat>Aat	p.D231N	ODF1_ENST00000518835.1_Missense_Mutation_p.D24N	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	231	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cagcccATATGATCCTTGCAA	0.532000													7	53					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551061	165551061	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:165551061G>A	ENST00000375458.2	-	11	3062	c.2841C>T	c.(2839-2841)tcC>tcT	p.S947S	COBLL1_ENST00000194871.6_Silent_p.S1052S|COBLL1_ENST00000392717.2_Silent_p.S1023S|COBLL1_ENST00000342193.4_Silent_p.S985S|COBLL1_ENST00000409184.3_Silent_p.S985S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1023				M -> T (in Ref. 6; CAD97877).						central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGGAGGAGGGGAGGCTTCAG	0.463000													11	26					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599171	136599171	+	Missense_Mutation	SNP	C	C	T	rs145724464		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:136599171C>T	ENST00000531224.1	-	4	1100	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R281Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R283Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R281Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R283Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R281Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	283					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTGTATCGACTAGATCC	0.443000													8	27					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854211	53854211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53854211C>T	ENST00000458035.1	+	4	400	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	ZNF845_ENST00000595091.1_Missense_Mutation_p.H95Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GAAAGATATTCATGATTTTGA	0.403000													23	46					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36673203	36673203	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:36673203G>A	ENST00000399881.3	+	9	1030	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	331						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAAGGAAAGAAGTAAGTAG	0.333000													10	21					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57839469	57839469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:57839469G>A	ENST00000264230.4	-	3	2597	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	454							GTP binding										AACTCAAAGGGAATGTTATCC	0.368000													26	99					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245757	167245757	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:167245757G>C	ENST00000308378.3	-	11	1704	c.1399C>G	c.(1399-1401)Ctg>Gtg	p.L467V	WDR49_ENST00000476376.1_Missense_Mutation_p.L292V|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	467										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GATCTTATCAGAGTTGGGGCC	0.398000													14	55					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8430148	8430148	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:8430148G>A	ENST00000379660.4	-	3	695	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SLC35B3_ENST00000426876.1_Silent_p.F148F|SLC35B3_ENST00000339306.5_Silent_p.F82F	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	82					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CAACACATATGAAAAACTGAG	0.318000													5	21					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016374	141016374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:141016374C>T	ENST00000277549.5	+	47	7094	c.4525C>T	c.(4525-4527)Cac>Tac	p.H1509Y	CACNA1B_ENST00000371355.4_Missense_Mutation_p.H2316Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H2313Y|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H2315Y|CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H2314Y			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2315					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAACGGTTACCACTGCACCCT	0.667000													12	44					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070273	35070273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:35070273C>T	ENST00000382002.5	-	7	1064	c.638G>A	c.(637-639)gGa>gAa	p.G213E	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.G213E|PRLR_ENST00000511486.1_Missense_Mutation_p.G112E|PRLR_ENST00000542609.1_Missense_Mutation_p.G213E|PRLR_ENST00000397391.3_Missense_Mutation_p.G142E|PRLR_ENST00000513753.1_Missense_Mutation_p.G213E|PRLR_ENST00000310101.5_Missense_Mutation_p.G213E|PRLR_ENST00000231423.3_Missense_Mutation_p.G213E|PRLR_ENST00000342362.5_Missense_Mutation_p.G112E	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	213	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACTCCAGTATCCATGGTCTGG	0.448000													11	38					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597163	39597163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39597163G>A	ENST00000246646.3	-	1	10	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	4	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGCTGTAGGAAGAGGTCAT	0.572000													8	42					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138159	126138159	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:126138159C>T	ENST00000299308.3	+	9	2148	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P226S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	714						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCGGTGACACCTTTAGACAT	0.383000													10	67					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148218	129148218	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:129148218C>T	ENST00000540052.1	+	3	1514	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	BCORL1_ENST00000218147.7_Silent_p.L490L|BCORL1_ENST00000359304.2_Silent_p.L490L|BCORL1_ENST00000303743.5_Silent_p.L490L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	490	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGGTGTCTCCCAGGCGTGC	0.602000													56	88					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18537662	18537662	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:18537662G>A	ENST00000536719.1	-	3	311	c.177C>T	c.(175-177)atC>atT	p.I59I	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Silent_p.I59I			Q99816	TS101_HUMAN	tumor susceptibility 101	59	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAGGCACAGGGATTGTTCCAG	0.338000													8	18					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								4	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024180	9024180	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9024180C>T	ENST00000397910.4	-	18	37295	c.37092G>A	c.(37090-37092)gtG>gtA	p.V12364V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12366					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGAGATCCACTGTGGAGG	0.468000													3	6					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271830	59271830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:59271830C>T	ENST00000313253.1	+	1	782	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TATGCCCGGCCCTTCACTGCC	0.557000													53	149					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73712523	73712523	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:73712523G>A	ENST00000314032.4	-	7	1425	c.873C>T	c.(871-873)ttC>ttT	p.F291F	UCP3_ENST00000545271.1_5'UTR|UCP3_ENST00000348534.4_Silent_p.F189F	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	291	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CATAGGTTACGAACATCACCA	0.478000													10	20					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745120	73745120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73745120G>A	ENST00000200181.3	+	27	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_ENST00000579662.1_Missense_Mutation_p.D1104N|ITGB4_ENST00000339591.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000450894.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D1104N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1104					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617000													10	31					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640749	34640749	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:34640749C>T	ENST00000537011.1	+	3	1062	c.680C>T	c.(679-681)tCc>tTc	p.S227F	NUTM1_ENST00000333756.4_Missense_Mutation_p.S199F|NUTM1_ENST00000438749.3_Missense_Mutation_p.S217F					NUT midline carcinoma, family member 1																		TCCAAGCCTTCCCTAGGTGAC	0.567000													10	48					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58467161	58467161	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:58467161G>A	ENST00000219919.4	+	4	791	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AQP9_ENST00000558772.1_Missense_Mutation_p.E76K|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.E141K	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	141					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GATCGTGGGAGAAAATGCAAC	0.443000													44	32					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31165421	31165421	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:31165421A>T	ENST00000357033.4	-	75	10974	c.10768T>A	c.(10768-10770)Tta>Ata	p.L3590I	DMD_ENST00000378677.2_Missense_Mutation_p.L3586I|DMD_ENST00000361471.4_Missense_Mutation_p.L509I|DMD_ENST00000359836.1_Missense_Mutation_p.L1117I|DMD_ENST00000343523.2_Missense_Mutation_p.L1020I|DMD_ENST00000378680.2_Missense_Mutation_p.L412I|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000378702.4_Missense_Mutation_p.L522I|DMD_ENST00000541735.1_Missense_Mutation_p.L1020I|DMD_ENST00000378723.3_Missense_Mutation_p.L522I|DMD_ENST00000474231.1_Missense_Mutation_p.L1130I|DMD_ENST00000378707.3_Missense_Mutation_p.L1130I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3590					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCCTGTGTAACTGTGACTCC	0.473000													31	16					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96131359	96131359	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:96131359G>A	ENST00000467865.1	+	0	1767				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gcaCCAAGAGGATGGAGCCCA	0.542000			T	TRA@	T-ALL								5	6					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166902341	166902341	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:166902341C>T	ENST00000510118.1	-	12	1302	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R207Q|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R304Q|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R296Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R207Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R142Q			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	296	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCAGGGGTTCCGTTTGAAGAG	0.582000													4	14					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990164	56990164	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:56990164G>A	ENST00000371250.3	-	3	911	c.360C>T	c.(358-360)aaC>aaT	p.N120N		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	120					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCACGTAGGGGTTCTGAATCG	0.507000													19	46					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127973380	127973380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:127973380G>A	ENST00000223073.1	-	9	1097	c.983C>T	c.(982-984)cCc>cTc	p.P328L	RBM28_ENST00000415472.2_Missense_Mutation_p.P187L	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	328					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CACATCAGAGGGTAATTTCCT	0.373000													5	31					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405833	68405833	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:68405833G>A	ENST00000219334.5	-	3	855	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SMPD3_ENST00000563226.1_Silent_p.F84F|SMPD3_ENST00000568373.1_Silent_p.F84F	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	84					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTGGGGACCAGAAGAGAAAGC	0.647000													12	4					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107689770	107689770	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107689770C>T	ENST00000388781.3	-	27	4206		c.e27+1		LAMB4_ENST00000388780.3_Splice_Site|LAMB4_ENST00000205386.4_Splice_Site	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4						cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAATATTTACCTTTTCATTC	0.299000													12	20					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41798325	41798325	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:41798325C>T	ENST00000392006.3	+	8	1348	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.S392F|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.S292F|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.S292F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.S303F|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.S292F|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.S278F	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	392	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCTACTGTTCTGTCCTCCCG	0.567000													15	33					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127738224	127738224	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:127738224G>A	ENST00000368679.4	-	15	1942	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	ADAM12_ENST00000368676.4_Missense_Mutation_p.P545S|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	545	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGATCCCAGGGGCAGGTTTA	0.468000													27	33					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75550803	75550803	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:75550803C>T	ENST00000604729.1	+	8	1309	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P338S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P338S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P338S|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.P338S					zinc finger, SWIM-type containing 8																		TCTGCTGCGCCCTCTGAGGGG	0.562000													19	58					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2579508	2579508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2579508C>T	ENST00000302956.4	+	10	1358	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	AMDHD2_ENST00000293971.6_Nonsense_Mutation_p.Q392*|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Nonsense_Mutation_p.Q422*|CEMP1_ENST00000382350.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	392					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CCTTCACGTCCAGGCCACCTA	0.667000													62	70					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919390	13919390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13919390C>T	ENST00000265104.4	-	7	974	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	290	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTTTTTTTCCAGTGCTCCA	0.527000									Kartagener syndrome				49	248					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73987679	73987679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73987679C>T	ENST00000553558.1	-	4	1267	c.946G>A	c.(946-948)Gat>Aat	p.D316N	HEATR4_ENST00000334988.2_Missense_Mutation_p.D316N|HEATR4_ENST00000560393.1_Missense_Mutation_p.D269N	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCATGGATATCCTCAGTGCTC	0.527000													17	39					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151741	160151741	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:160151741G>A	ENST00000368081.4	+	20	3360	c.2889G>A	c.(2887-2889)ggG>ggA	p.G963G	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.G99G	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	963					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAATATTTGGGATCCTGGAGG	0.532000													69	142					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401555	401555	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:401555C>T	ENST00000380956.4	+	7	1003	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	293					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGTCCTGTTCCCCTACCCAGA	0.612000			T	IGH@	MM								8	48					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11233876	11233876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11233876G>A	ENST00000558518.1	+	15	2354	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	LDLR_ENST00000535915.1_Missense_Mutation_p.E682K|LDLR_ENST00000455727.2_Missense_Mutation_p.E555K|LDLR_ENST00000558013.1_Missense_Mutation_p.E723K|LDLR_ENST00000557933.1_Missense_Mutation_p.E723K|LDLR_ENST00000545707.1_Missense_Mutation_p.E545K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	723	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGCCACCCAGGAGACATCCAC	0.592000													27	64					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53567532	53567532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53567532G>A	ENST00000267085.4	-	3	288	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000542115.1_5'UTR|CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	221					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGGAGAGCCGGAGGCAGGGTG	0.507000													7	14					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987705	123987705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:123987705C>T	ENST00000360013.3	+	5	693	c.566C>T	c.(565-567)tCc>tTc	p.S189F	KALRN_ENST00000460856.1_Missense_Mutation_p.S189F|KALRN_ENST00000240874.3_Missense_Mutation_p.S189F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	189					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCGGCTCTCCCTGGAGGAG	0.617000													22	25					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263618	34263618	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:34263618C>T	ENST00000262622.3	+	4	1683	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	CHST8_ENST00000434302.1_Missense_Mutation_p.P309S|CHST8_ENST00000438847.2_Missense_Mutation_p.P309S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	309					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GGTGCGTTTTCCCGAGTTCGT	0.652000													10	31					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73486351	73486351	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73486351C>T	ENST00000314256.7	+	10	1385	c.991C>T	c.(991-993)Cca>Tca	p.P331S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P341S|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	331					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTCTTTCCAGTCCTCTG	0.632000													30	138					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057908	46057908	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:46057908C>T	ENST00000380095.1	+	1	636	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	192	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTCCGTGTCCCTCCTCTGCCA	0.682000													87	102					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75269650	75269650	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:75269650G>A	ENST00000546196.1	-	5	2712	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	BCAR1_ENST00000420641.3_Missense_Mutation_p.P401S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P401S|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Missense_Mutation_p.P383S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P429S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P401S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P381S|BCAR1_ENST00000535626.2_Missense_Mutation_p.P235S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P383S			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	383	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGGTGCCCGGGCCAGGCCGC	0.706000													15	2					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71152295	71152295	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:71152295C>T	ENST00000377311.3	-	2	445	c.393G>A	c.(391-393)ctG>ctA	p.L131L		NM_153237.1	NP_694969.1			transmembrane protein 252																		CCTGGAATTCCAGGCCCGTCT	0.552000													17	24					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172533400	172533400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:172533400C>T	ENST00000417960.1	+	23	2788	c.2311C>T	c.(2311-2313)Ctt>Ttt	p.L771F	ECT2_ENST00000427830.1_Missense_Mutation_p.L772F|ECT2_ENST00000392692.3_Missense_Mutation_p.L803F|ECT2_ENST00000232458.5_Missense_Mutation_p.L772F|ECT2_ENST00000540509.1_Missense_Mutation_p.L803F|ECT2_ENST00000441497.2_Missense_Mutation_p.L772F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	772					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATAGGAGAATCTTATTTATAC	0.259000													6	41					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254530	7254530	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7254530G>A	ENST00000266542.4	-	3	546	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	C1RL_ENST00000545337.1_Missense_Mutation_p.L152F|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Missense_Mutation_p.L152F	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	152	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCTTGTGGAGGTGGGCAGTC	0.617000													45	117					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36629616	36629616	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:36629616C>T	ENST00000265113.4	+	3	722	c.246C>T	c.(244-246)tcC>tcT	p.S82S	SLC1A3_ENST00000381918.3_Silent_p.S82S	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	82					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGTACTTCTCCTTTCCTGGGG	0.398000													31	110					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528233	120528233	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:120528233G>A	ENST00000354960.3	-	2	691	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PDE5A_ENST00000394439.1_Silent_p.F72F|PDE5A_ENST00000264805.5_Silent_p.F82F	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	124					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AGTCAGAGAGGAAGCTCACAG	0.488000													22	20					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787362	8787362	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:8787362G>A	ENST00000343849.2	+	2	342	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	CAV3_ENST00000397368.2_Missense_Mutation_p.G89S|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	89	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCTGCTCTGGGGCTTCCTGTT	0.587000													3	12					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42050647	42050647	+	Silent	SNP	G	G	A	rs141964626		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:42050647G>A	ENST00000220809.4	-	2	313	c.57C>T	c.(55-57)ttC>ttT	p.F19F	PLAT_ENST00000429089.2_Silent_p.F19F|PLAT_ENST00000270189.6_Silent_p.F19F|PLAT_ENST00000429710.2_Silent_p.F19F|PLAT_ENST00000519510.1_Silent_p.F19F|PLAT_ENST00000352041.3_Silent_p.F19F|PLAT_ENST00000524009.1_Silent_p.F19F	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	19					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGGCGAAACGAAGACTGCTC	0.567000													8	33					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41201694	41201694	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41201694G>A	ENST00000263413.3	-	3	530	c.266C>T	c.(265-267)cCa>cTa	p.P89L	C6_ENST00000337836.5_Missense_Mutation_p.P89L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	89	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCTGACCATGGTCCAAAATC	0.463000													34	12					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894282	77894282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:77894282C>T	ENST00000262198.4	+	4	1441	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	329	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCTGGCCAATCCCACATGACT	0.637000													21	41					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72922787	72922787	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:72922787A>C	ENST00000339594.4	-	3	577	c.239T>G	c.(238-240)tTt>tGt	p.F80C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.F80C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	80	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGGCAGGAAACTCCTCCTT	0.363000													11	50					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262927	121262927	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121262927G>A	ENST00000297848.3	+	22	2944	c.2674G>A	c.(2674-2676)Gga>Aga	p.G892R	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.G797R|COL14A1_ENST00000309791.4_Missense_Mutation_p.G892R	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	892	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCTCCTCAGCGGAATGGACTA	0.468000													11	36					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173183	5173183	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5173183G>A	ENST00000380367.1	-	2	834	c.417C>T	c.(415-417)acC>acT	p.T139T	OR52A1_ENST00000328942.1_Silent_p.T139T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	139					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCTGGTGGGTGAAGATGT	0.483000													9	28					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94397261	94397261	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:94397261C>T	ENST00000260731.3	+	16	2209	c.2119C>T	c.(2119-2121)Cta>Tta	p.L707L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	707					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGTGGAAACCTAACTGAAGA	0.393000													17	36					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451093	87451093	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:87451093G>A	ENST00000268616.4	-	8	1162	c.945C>T	c.(943-945)ccC>ccT	p.P315P		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	315					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTTAAAGACGGGGTAATACT	0.512000											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	80					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707513	37707513	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:37707513G>A	ENST00000248901.6	+	11	1089	c.902G>A	c.(901-903)gGa>gAa	p.G301E		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	301	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAGCCACGGGGAATTATACCT	0.587000													8	34					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619109	7619109	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:7619109C>T	ENST00000221249.6	+	23	2733	c.2302C>T	c.(2302-2304)Ctt>Ttt	p.L768F	PNPLA6_ENST00000600737.1_Missense_Mutation_p.L806F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L741F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L768F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L816F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	807					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GACGCTACTCCTTAACAGTGA	0.627000													49	119					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162381	142162381	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142162381G>A	ENST00000390371.3	-	0	26																											GCTCCAGGACGGAGGGGTCTT	0.577000													18	34					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101542535	101542535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:101542535G>A	ENST00000353234.4	-	6	1351	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	ANKS6_ENST00000540940.1_Missense_Mutation_p.P240L|ANKS6_ENST00000375018.1_Missense_Mutation_p.P435L|ANKS6_ENST00000375019.2_Missense_Mutation_p.P134L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	435										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTCGAGTGGGGCAGGGGAGG	0.577000													7	23					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415566	145415566	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145415566C>T	ENST00000336751.5	+	3	623	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.P16S|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	129	Poly-Pro.				axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCCTcccccgccccgggg	0.706000													19	18					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836141	12836141	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12836141T>A	ENST00000357726.4	+	2	770	c.743T>A	c.(742-744)cTa>cAa	p.L248Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	248										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCATTCCCCTAGACAGGAAG	0.498000													21	106					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896751	227896751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:227896751G>A	ENST00000396625.3	-	40	3934	c.3727C>T	c.(3727-3729)Cct>Tct	p.P1243S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1243S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1243	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			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)		GCACCTGCAGGACCAGGTGGT	0.502000													5	23					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110406	98110406	+	Missense_Mutation	SNP	G	G	A	rs144759043	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:98110406G>A	ENST00000383695.1	+	1	897	c.897G>A	c.(895-897)atG>atA	p.M299I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TAAATATTATGAAAAAAATTA	0.259000													8	38					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567192	4567192	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4567192A>C	ENST00000360213.1	+	1	772	c.772A>C	c.(772-774)Att>Ctt	p.I258L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATGTTCCCATTGCTGTTTC	0.517000													24	45					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93641166	93641166	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:93641166C>T	ENST00000375754.4	+	11	1660	c.1512C>T	c.(1510-1512)acC>acT	p.T504T	SYK_ENST00000375747.1_Silent_p.T481T|SYK_ENST00000375746.1_Silent_p.T504T|SYK_ENST00000375751.4_Silent_p.T481T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	504	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCTAGTTACCCAACATTACG	0.428000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								27	72					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642806	91642806	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:91642806C>T	ENST00000373094.1	+	5	4062	c.3217C>T	c.(3217-3219)Cat>Tat	p.H1073Y	PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1036Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1036Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1063Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1063Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1073Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1073					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGGGAGACCATGATGCAGG	0.542000													21	16					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865141	51865141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:51865141C>T	ENST00000453097.2	+	14	1946	c.1729C>T	c.(1729-1731)Ctt>Ttt	p.L577F	SLC4A8_ENST00000535225.2_Missense_Mutation_p.L524F|SLC4A8_ENST00000514353.3_Missense_Mutation_p.L524F|SLC4A8_ENST00000394856.1_Missense_Mutation_p.L524F|SLC4A8_ENST00000358657.3_Missense_Mutation_p.L604F|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	577					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTGTATTGTCCTTGTGGCAAC	0.443000													27	105					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66857072	66857072	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:66857072C>T	ENST00000341509.5	-	2	355	c.224G>A	c.(223-225)gGg>gAg	p.G75E	LCTL_ENST00000537670.1_Intron|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	75					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGCACTTTCCCCTTCCCACT	0.622000													62	50					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588349	204588349	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:204588349C>T	ENST00000367175.1	-	1	2984	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	LRRN2_ENST00000367176.3_Missense_Mutation_p.E258K|LRRN2_ENST00000367177.3_Missense_Mutation_p.E258K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	258					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACCTGTTCCAGTGCCCGC	0.637000													24	51					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399626	55399626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55399626C>T	ENST00000355524.3	+	4	624	c.614C>T	c.(613-615)tCc>tTc	p.S205F	FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000359272.4_Missense_Mutation_p.S193F|FCAR_ENST00000353758.4_Missense_Mutation_p.S96F|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.S205F|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391725.3_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	205					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TACCTGTGGTCCTTCCCCAGT	0.602000													4	11					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794364	10794364	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:10794364C>T	ENST00000449870.1	+	16	2233	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	ILF3_ENST00000318511.3_Missense_Mutation_p.P635L|ILF3_ENST00000588657.1_Missense_Mutation_p.P639L|ILF3_ENST00000407004.3_Missense_Mutation_p.P639L|ILF3_ENST00000590261.1_Missense_Mutation_p.P635L|ILF3_ENST00000589998.1_Missense_Mutation_p.P635L|ILF3_ENST00000250241.8_Missense_Mutation_p.P635L|ILF3_ENST00000420083.1_Missense_Mutation_p.P635L|ILF3_ENST00000592763.1_Missense_Mutation_p.P639L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	635	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAAGTGCCCCCACCCCCCAAC	0.622000													16	27					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799487	5799487	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5799487G>A	ENST00000317093.2	-	1	410	c.378C>T	c.(376-378)ctC>ctT	p.L126L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTAGAGCCATGAGCATGAGCA	0.488000													26	27					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889520	3889520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:3889520G>A	ENST00000602557.1	-	4	1072	c.517C>T	c.(517-519)Cct>Tct	p.P173S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P173S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P173S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P173S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P173S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P173S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P173S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	173	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAGCCAGGGAGGCAGCTG	0.517000													6	21					0	0	1	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749788	22749788	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:22749788G>A	ENST00000390298.2	+	0	346																											CTGAGGACGAGGCTGAGTATT	0.562000													19	51					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903218	5903218	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:5903218C>T	ENST00000378961.4	+	4	632	c.428C>T	c.(427-429)cCc>cTc	p.P143L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	143						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCTCTATCCCTCCGACAGC	0.572000													10	5					0	0	1	0	0
GOLGA8EP	390535	broad.mit.edu	37	15	23443526	23443526	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:23443526G>A	ENST00000526079.1	+	0	1601					NR_027407.1|NR_033350.1																						CCAGCCAGCAGAAACAGCAGC	0.637000													10	15					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128490	152128490	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152128490C>T	ENST00000316073.3	-	3	1149	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	362	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGAACCCTGGCCTTGTCTGTT	0.478000													277	370					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004080	187004080	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:187004080C>T	ENST00000296795.2	+	4	1344	c.1240C>T	c.(1240-1242)Cta>Tta	p.L414L	TLR3_ENST00000504367.1_Silent_p.L137L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	414					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CATACTCAACCTAACCAAGAA	0.383000													5	9					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049243	42049243	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:42049243G>A	ENST00000372584.1	-	3	2240	c.1226C>T	c.(1225-1227)aCc>aTc	p.T409I	HIVEP3_ENST00000429157.2_Missense_Mutation_p.T409I|HIVEP3_ENST00000372583.1_Missense_Mutation_p.T409I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T409I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	409	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTTGGCGTTGGTGTTTGGGGG	0.602000													12	72					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425497	49425497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49425497G>A	ENST00000301067.7	-	39	12990	c.12991C>T	c.(12991-12993)Ccc>Tcc	p.P4331S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCTCAGTGGGAAGCTGGGAG	0.632000													6	19					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812849	1812849	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:1812849C>T	ENST00000250894.4	+	16	1894	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	MAPK8IP3_ENST00000356010.5_Silent_p.L573L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	579					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCAGCCGCCTCTTCAGCTCTT	0.672000													34	80					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605836	7605836	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7605836C>T	ENST00000316024.5	+	7	3478	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	WRAP53_ENST00000457584.2_Missense_Mutation_p.P377L|WRAP53_ENST00000534050.1_Missense_Mutation_p.P344L|WRAP53_ENST00000396463.2_Missense_Mutation_p.P377L|WRAP53_ENST00000431639.2_Missense_Mutation_p.P377L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	377					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGCTTTCATCCCGATGGCAAC	0.642000													10	7					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104490994	104490994	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:104490994C>T	ENST00000409874.4	+	25	2743	c.2695C>T	c.(2695-2697)Ctt>Ttt	p.L899F	TDRD9_ENST00000339063.5_Missense_Mutation_p.L899F	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	899					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TACAGATCTCCTTCTAACTAT	0.398000													12	41					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76818060	76818060	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76818060G>A	ENST00000312010.6	-	7	1040	c.716C>T	c.(715-717)aCc>aTc	p.T239I	USP36_ENST00000542802.2_Missense_Mutation_p.T239I|USP36_ENST00000449938.2_5'UTR	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	239					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ATGGACCAAGGTAGTAGCCTG	0.512000													28	62					0	0	1	0	0
MRPL49	740	broad.mit.edu	37	11	64891988	64891988	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64891988C>T	ENST00000279242.2	+	2	112	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MRPL49_ENST00000526171.1_Silent_p.G31G|MRPL49_ENST00000534078.1_Intron|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000531705.1_Silent_p.G31G	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	31					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						AGACCCAGGGCCCTCCAGATT	0.483000													24	44					0	0	1	0	0
COPS5	10987	broad.mit.edu	37	8	67968826	67968826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67968826G>A	ENST00000517736.1	-	5	956	c.395C>T	c.(394-396)cCt>cTt	p.P132L	PPP1R42_ENST00000517834.1_5'UTR|COPS5_ENST00000357849.4_Missense_Mutation_p.P196L			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	196	MPN.				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTTCATCAGGAGGTTTGTA	0.259000													14	28					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74284463	74284463	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:74284463G>A	ENST00000316900.5	-	1	226	c.102C>T	c.(100-102)tcC>tcT	p.S34S	STOML1_ENST00000564777.1_Silent_p.S34S|STOML1_ENST00000359750.4_Silent_p.S34S|STOML1_ENST00000316911.6_Silent_p.S34S|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000561656.1_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	34						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCCGCTCCGGGGACAAGCAGC	0.726000													8	48					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28963254	28963254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28963254G>A	ENST00000377179.3	-	7	2037	c.1525C>T	c.(1525-1527)Caa>Taa	p.Q509*	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGCTTATCTTGGAAGGTTTTC	0.468000													11	52					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145862239	145862239	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:145862239C>T	ENST00000296702.5	+	13	2009	c.1971C>T	c.(1969-1971)gtC>gtT	p.V657V	TCERG1_ENST00000394421.2_Silent_p.V636V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	657					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCATTGTCCCTCTGGAGG	0.408000													10	28					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330088	34330088	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:34330088C>T	ENST00000522796.1	+	4	2201	c.296C>T	c.(295-297)tCc>tTc	p.S99F	HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.S99F|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	99						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTCCATCATCCTTCCTACTC	0.542000													16	86					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580245	140580245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140580245G>A	ENST00000354757.3	+	1	898	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGTCTGGAGAAATTACTTT	0.368000													44	41					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030317	44030317	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:44030317G>A	ENST00000269439.7	+	5	725	c.674G>A	c.(673-675)gGa>gAa	p.G225E	RNF165_ENST00000543885.1_Missense_Mutation_p.G33E	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	225							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCTCTCCAGGGACTAAATCCC	0.502000													28	13					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134991	71134991	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:71134991G>A	ENST00000333538.5	+	8	1935	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTCTCCGAAAGAAGAGCATTA	0.463000													29	50					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630558	54630558	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54630558G>A	ENST00000545554.1	+	16	4584		c.e16-1		UNC13C_ENST00000537900.1_Splice_Site|UNC13C_ENST00000260323.11_Splice_Site			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTTGTCAGGTTCTGGAGC	0.383000													16	64					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744344	81744344	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:81744344C>T	ENST00000555447.1	-	6	1723	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	STON2_ENST00000267540.2_Silent_p.K437K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	437	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGATGTTTTTCTTCTCAGGGA	0.527000													101	62					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49548002	49548002	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49548002C>T	ENST00000545947.1	+	5	757	c.35C>T	c.(34-36)cCc>cTc	p.P12L	DAG1_ENST00000541308.1_Missense_Mutation_p.P12L|DAG1_ENST00000308775.2_Missense_Mutation_p.P12L|DAG1_ENST00000515359.2_Missense_Mutation_p.P12L|DAG1_ENST00000539901.1_Missense_Mutation_p.P12L|DAG1_ENST00000538711.1_Missense_Mutation_p.P12L|DAG1_ENST00000479935.1_3'UTR	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	12					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGCTGCTGCCCCTCTCGGGG	0.567000													34	47					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11996051	11996051	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:11996051C>T	ENST00000333796.3	-	1	535	c.219G>A	c.(217-219)agG>agA	p.R73R	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	73					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CAGCAGGTCTCCTGCTACTCA	0.572000													17	103					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657606	143657606	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143657606C>T	ENST00000392899.1	+	1	580	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L181L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTGTGAACTCCTAGCTGTGG	0.507000													27	54					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121298204	121298204	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121298204C>T	ENST00000297848.3	+	33	4342	c.4072C>T	c.(4072-4074)Cac>Tac	p.H1358Y	COL14A1_ENST00000247781.3_Missense_Mutation_p.H1263Y|COL14A1_ENST00000309791.4_Missense_Mutation_p.H1358Y	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1358	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGCTTTCACAAGGTTAG	0.318000													19	27					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400075	90400075	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:90400075C>T	ENST00000337338.5	+	3	1855	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	LRRC8D_ENST00000394593.3_Missense_Mutation_p.P483L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCGGGGGTGCCCGATGCTGTC	0.463000													9	33					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174373	51174373	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:51174373G>A	ENST00000440970.1	-	2	1900	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P587L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	587					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAGCCTGGGGGGCTGGTGGC	0.627000													15	16					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45856518	45856518	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:45856518G>A	ENST00000391945.4	-	18	1817	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	ERCC2_ENST00000391944.3_Silent_p.A502A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	580	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACTTCTCCAGGGCGACACTGG	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	12					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757077	56757077	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:56757077C>T	ENST00000267460.4	+	5	885	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	200					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GGGGGCTTCACCGAGGAGTCC	0.592000													34	72					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198691586	198691586	+	Silent	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:198691586T>A	ENST00000367376.2	+	15	1866	c.1695T>A	c.(1693-1695)atT>atA	p.I565I	PTPRC_ENST00000442510.2_Silent_p.I567I|PTPRC_ENST00000594404.1_Silent_p.I404I|PTPRC_ENST00000352140.3_Silent_p.I517I|PTPRC_ENST00000348564.6_Silent_p.I406I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	565	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCCTTTATTTTACATCATT	0.234000													10	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089417	9089417	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9089417C>T	ENST00000397910.4	-	1	2601	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	800	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTCTCTTCCCCTGATGGA	0.512000													34	94					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458228	12458228	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:12458228C>T	ENST00000397026.2	+	8	1162	c.779C>T	c.(778-780)tCc>tTc	p.S260F	PPARG_ENST00000287820.6_Missense_Mutation_p.S282F|PPARG_ENST00000397015.2_Missense_Mutation_p.S254F|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.S254F|PPARG_ENST00000309576.6_Missense_Mutation_p.S254F|PPARG_ENST00000397012.2_Missense_Mutation_p.S254F|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	282	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GACATGAATTCCTTAATGATG	0.448000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						9	14					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096303	51096303	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:51096303C>T	ENST00000395542.2	-	12	2920	c.2736G>A	c.(2734-2736)ggG>ggA	p.G912G	COBL_ENST00000265136.7_Silent_p.G830G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	830										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCTCCCCTCCCCTAGGGGGT	0.602000													25	48					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489510	237489510	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:237489510C>T	ENST00000272928.3	+	2	712	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		GCATTTTCTTCCTCACGTGCA	0.567000													28	61					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76633484	76633484	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76633484G>A	ENST00000290759.4	+	5	965	c.805G>A	c.(805-807)Gga>Aga	p.G269R	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GAGCCTTCAGGGACTGACTGG	0.627000													7	58					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234436094	234436094	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234436094T>A	ENST00000251722.6	-	13	1798	c.1681A>T	c.(1681-1683)Aaa>Taa	p.K561*	USP40_ENST00000450966.1_Nonsense_Mutation_p.K573*|USP40_ENST00000427112.2_Nonsense_Mutation_p.K561*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	561					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTTTTTCTTTTATCAAAGGTC	0.438000													12	21					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703598	40703598	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40703598C>T	ENST00000372771.4	+	8	3251	c.3224C>T	c.(3223-3225)tCa>tTa	p.S1075L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1075					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTGAAAAACTCAATAACACAT	0.413000													42	25					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354212	17354212	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:17354212C>T	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							ACATTTTTTTCCAAATGTAAT	0.458000													21	106					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343838	38343838	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:38343838C>T	ENST00000374618.3	+	5	964	c.786C>T	c.(784-786)ctC>ctT	p.L262L	ZNF33A_ENST00000458705.2_Silent_p.L261L|ZNF33A_ENST00000307441.9_Silent_p.L261L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.L268L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTTCATCCCTCTTGTTCCATC	0.388000													15	44					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266630	107266630	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107266630G>A	ENST00000334726.2	+	1	176	c.87G>A	c.(85-87)gcG>gcA	p.A29A		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29A(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCATATTTGCGGTGTGCTTGC	0.423000													43	49					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625232	111625232	+	Silent	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:111625232A>G	ENST00000333999.3	+	1	630	c.630A>G	c.(628-630)ggA>ggG	p.G210G		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	210						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTCCTATGGAAGGACCTCCG	0.562000													13	48					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100487	52100487	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52100487C>T	ENST00000354534.5	+	11	1801	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	SCN8A_ENST00000550891.1_Silent_p.S541S|SCN8A_ENST00000545061.1_Silent_p.S541S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	541					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGAAATTTTCCATCATGAATC	0.358000													6	8					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058510	53058510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53058510C>T	ENST00000359798.4	+	5	2521	c.2341C>T	c.(2341-2343)Cat>Tat	p.H781Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCTTGTATACCATCGTAGACT	0.433000													40	76					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23669594	23669594	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:23669594G>A	ENST00000217423.3	-	1	83	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	5						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGGGTACACAGAGGCCGGGCC	0.617000													14	18					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47614446	47614446	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:47614446G>A	ENST00000397728.3	-	20	2025	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	LSS_ENST00000522411.1_Silent_p.I638I|LSS_ENST00000457828.2_Silent_p.I569I|LSS_ENST00000356396.4_Silent_p.I649I	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	649					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ATGTGTTATGGATCTGGGACT	0.622000													5	23					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120611912	120611912	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:120611912G>A	ENST00000300648.6	-	13	1167	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	385					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCAGCCACGATCCCATTCA	0.507000													4	17					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337806	220337806	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:220337806C>T	ENST00000312358.7	+	16	4267	c.4135C>T	c.(4135-4137)Ctg>Ttg	p.L1379L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1379					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTGTGCAGCTGCTGGAGCA	0.662000													10	16					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136274	55136274	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55136274T>A	ENST00000314706.3	+	1	915	c.915T>A	c.(913-915)ttT>ttA	p.F305L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCTAACTTTTATAACTCCCA	0.383000													29	107					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140249718G>A	ENST00000398640.2	+	1	1030	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000													16	24					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151499454	151499454	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151499454C>T	ENST00000271636.7	+	10	1900	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	583	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTCAGACTCCTGCAGCTGC	0.537000													15	22					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49961578	49961578	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:49961578G>A	ENST00000376056.2	-	4	363	c.213C>T	c.(211-213)atC>atT	p.I71I	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.I80I|AKAP4_ENST00000376064.3_Silent_p.I71I|AKAP4_ENST00000376058.2_Silent_p.I71I			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	80					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGATCACGATAATCTCTT	0.423000													39	10					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238973090	238973090	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:238973090C>T	ENST00000254663.6	+	2	348	c.206C>T	c.(205-207)cCc>cTc	p.P69L	SCLY_ENST00000555827.1_Missense_Mutation_p.P61L|SCLY_ENST00000409736.2_Missense_Mutation_p.P61L|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000422984.2_Missense_Mutation_p.P61L|UBE2F-SCLY_ENST00000449191.1_3'UTR|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000429612.2_Missense_Mutation_p.P61L	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	61					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TGGGGAAATCCCAGCAGCCCG	0.507000													9	21					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913840	160913840	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:160913840G>A	ENST00000335388.5	-	0	480					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCTAGGCTTGGAACTGGGATA	0.493000													20	54					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306998	162306998	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:162306998C>T	ENST00000306100.5	-	16	2881	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.K814K|FSTL5_ENST00000427802.2_Silent_p.K805K|FSTL5_ENST00000379164.4_Silent_p.K814K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	815			K -> E (in dbSNP:rs17040982).			extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGAGAGTCCTTGGAAGGTG	0.433000													22	58					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763579	113763579	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:113763579G>A	ENST00000259211.6	+	2	450	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTCAGCAGGGGAGCATTCAGG	0.468000													18	31					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809942	5809942	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5809942G>A	ENST00000317078.1	-	1	104	c.105C>T	c.(103-105)acC>acT	p.T35T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCTGTACATGGTACACAGTG	0.453000													8	23					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700880	6700880	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6700880G>A	ENST00000309577.6	-	21	3365	c.3202C>T	c.(3202-3204)Cgt>Tgt	p.R1068C	CHD4_ENST00000357008.2_Missense_Mutation_p.R1068C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1065C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1061C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1068	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGAGTACACGATGCCCACCC	0.468000													17	65					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274316	74274316	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:74274316C>T	ENST00000295897.4	+	4	365	c.276C>T	c.(274-276)acC>acT	p.T92T	ALB_ENST00000503124.1_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Silent_p.T92T	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	92	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TTTAGCATACCCTTTTTGGAG	0.383000													3	22					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198711126	198711126	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:198711126C>T	ENST00000367376.2	+	24	2697	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	PTPRC_ENST00000442510.2_Silent_p.F844F|PTPRC_ENST00000594404.1_Silent_p.F681F|PTPRC_ENST00000352140.3_Silent_p.F794F|PTPRC_ENST00000348564.6_Silent_p.F683F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	842	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAGCAATTTCTTCAGTGGTC	0.473000													12	21					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7473398	7473398	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7473398G>A	ENST00000399422.4	+	6	1047	c.999G>A	c.(997-999)aaG>aaA	p.K333K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	333					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AAGACCTTAAGAGGTACTTGG	0.463000													6	14					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83643665	83643665	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:83643665G>A	ENST00000265362.3	-	7	984	c.670C>T	c.(670-672)Cca>Tca	p.P224S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P224S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	224	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGAACTTTGGATCTGAGAGA	0.323000													17	21					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14882145	14882145	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:14882145C>T	ENST00000378372.3	+	3	449	c.210C>T	c.(208-210)atC>atT	p.I70I	HSPA14_ENST00000437161.2_Silent_p.I70I|HSPA14_ENST00000493863.1_3'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	70					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TAAAGCAGATCCTGGGCAGAA	0.264000													7	21					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94181669	94181669	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:94181669C>T	ENST00000297273.4	+	16	2251	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	655						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGACCTATTCCATCTGGGCT	0.348000													9	72					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272655	65272655	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:65272655C>T	ENST00000534336.1	+	0	7423					NR_002819.2																						TAAGATTTTTCAGGTACCCCT	0.493000													7	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429135	179429135	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179429135C>T	ENST00000589042.1	-	326	81948	c.81724G>A	c.(81724-81726)Gaa>Aaa	p.E27242K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24674K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25601K|TTN_ENST00000359218.5_Missense_Mutation_p.E18302K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18177K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18369K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25601	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTAAATTCATATCTTTGG	0.393000													6	16					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798358	212798358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:212798358G>T	ENST00000294829.3	+	1	570	c.139G>T	c.(139-141)Gag>Tag	p.E47*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	47										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACCGATATTTGAGAGCGACTT	0.502000													19	67					7.45023e-12	7.55516e-12	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54306787	54306787	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54306787G>A	ENST00000545554.1	+	1	1687	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D563N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D563N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	563					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTACTCAGAAGATTTTTCAGA	0.423000													7	12					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803104	79803104	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:79803104G>A	ENST00000331483.4	-	10	1584	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.V410V	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	454	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGTAATCAATGACCTGTGGAA	0.597000													3	24					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364610	5364610	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5364610C>T	ENST00000300773.2	-	1	199	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGATCTTCCTTAATGAGA	0.498000													12	26					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201778349	201778349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:201778349G>A	ENST00000367296.4	+	21	4685	c.4265G>A	c.(4264-4266)cGg>cAg	p.R1422Q	NAV1_ENST00000367300.3_Missense_Mutation_p.R1362Q|NAV1_ENST00000367302.1_Missense_Mutation_p.R1375Q|NAV1_ENST00000295624.6_Missense_Mutation_p.R1419Q|NAV1_ENST00000367297.4_Missense_Mutation_p.R1414Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.R1028Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1422					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGACCCTCCGGGTGGTGGTG	0.512000													55	122					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2061788	2061788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2061788G>A	ENST00000280665.6	-	7	1397	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q314*|DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q338*	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	440					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGCCAGTCTGACTACCAGAG	0.522000													38	60					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105180906	105180906	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:105180906C>T	ENST00000392634.4	+	21	3519	c.3407C>T	c.(3406-3408)tCc>tTc	p.S1136F	INF2_ENST00000330634.7_Missense_Mutation_p.S1136F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1136					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GATCCCACGTCCTTGCTGGGC	0.652000													24	53					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111845647	111845647	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:111845647G>A	ENST00000440460.2	+	5	893	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	DIXDC1_ENST00000531396.1_Missense_Mutation_p.R199Q|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000529225.1_Missense_Mutation_p.R198Q	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	199	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGGAGTGTGCGGGCCCTAGTG	0.517000													9	6					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728499	51728499	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:51728499C>T	ENST00000262262.4	+	2	84	c.63C>T	c.(61-63)ttC>ttT	p.F21F	CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.F21F	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	21	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATCCAAATTTCTGGCTGCAAG	0.602000													10	31					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518119	8518119	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:8518119G>A	ENST00000381196.4	-	18	1815	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	PTPRD_ENST00000397611.3_Silent_p.V421V|PTPRD_ENST00000360074.4_Silent_p.V411V|PTPRD_ENST00000397617.3_Silent_p.V414V|PTPRD_ENST00000358503.5_Silent_p.V411V|PTPRD_ENST00000540109.1_Silent_p.V424V|PTPRD_ENST00000537002.1_Silent_p.V421V|PTPRD_ENST00000486161.1_Silent_p.V424V|PTPRD_ENST00000356435.5_Silent_p.V424V|PTPRD_ENST00000355233.5_Silent_p.V424V|PTPRD_ENST00000397606.3_Silent_p.V414V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	424	Fibronectin type-III 2.				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)		TTCGTGCCTGGACATCCCTCG	0.502000										TSP Lung(15;0.13)			28	34					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134226074	134226074	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:134226074C>T	ENST00000337090.3	+	3	341	c.168C>T	c.(166-168)atC>atT	p.I56I	CEP63_ENST00000332047.5_Silent_p.I56I|CEP63_ENST00000606977.1_Silent_p.I56I|CEP63_ENST00000354446.3_Silent_p.I56I|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000513612.2_Silent_p.I56I|CEP63_ENST00000383229.3_Silent_p.I56I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	56					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTTGAAAATCCGTGAACAGG	0.373000													8	44					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139441	68139441	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:68139441G>A	ENST00000262215.3	-	27	4236	c.3847C>T	c.(3847-3849)Cat>Tat	p.H1283Y	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.H737Y|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.H121Y	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1283					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCAGCTAGATGAAATACAGAG	0.398000													30	46					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129831618	129831618	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:129831618C>T	ENST00000259351.5	+	8	860	c.593C>T	c.(592-594)cCa>cTa	p.P198L	RALGPS1_ENST00000424082.2_Missense_Mutation_p.P198L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.P198L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.P198L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.P198L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	198	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AAGATGGTTCCAAGTATTCCC	0.373000													19	49					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119355	3119355	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:3119355G>A	ENST00000525643.2	+	7	898	c.566G>A	c.(565-567)tGa>tAa	p.*189*	IL32_ENST00000551122.1_Silent_p.*132*|IL32_ENST00000549213.1_Silent_p.*132*|IL32_ENST00000534507.1_Silent_p.*235*|IL32_ENST00000325568.5_Silent_p.*189*|IL32_ENST00000529699.1_Silent_p.*169*|IL32_ENST00000552356.1_Silent_p.*169*|IL32_ENST00000533097.2_Silent_p.*189*|IL32_ENST00000548652.1_Silent_p.*180*|IL32_ENST00000530538.2_Silent_p.*189*|IL32_ENST00000382213.3_Silent_p.*180*|IL32_ENST00000552936.1_Silent_p.*213*|IL32_ENST00000526464.2_Silent_p.*189*|IL32_ENST00000528163.2_Silent_p.*189*|IL32_ENST00000008180.9_Silent_p.*169*|IL32_ENST00000552664.1_Silent_p.*189*|IL32_ENST00000530890.1_Silent_p.*169*|IL32_ENST00000548476.1_Silent_p.*235*|IL32_ENST00000531965.1_Silent_p.*179*|IL32_ENST00000548246.1_Silent_p.*149*|IL32_ENST00000529550.1_Silent_p.*189*|IL32_ENST00000396887.3_Silent_p.*132*|IL32_ENST00000396890.2_Silent_p.*235*|IL32_ENST00000444393.3_Silent_p.*189*|IL32_ENST00000440815.3_Silent_p.*189*|IL32_ENST00000551513.1_Silent_p.*226*			P24001	IL32_HUMAN	interleukin 32	0					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCCTCAAAATGAAGATACTGA	0.617000													11	125					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154336	74154336	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:74154336G>A	ENST00000443185.2	-	3	992	c.675C>T	c.(673-675)acC>acT	p.T225T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTGCGCGGTGATGTGGT	0.697000													9	20					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679883	100679883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100679883C>T	ENST00000306151.4	+	3	5250	c.5186C>T	c.(5185-5187)tCa>tTa	p.S1729L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1729	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCCGTTCATCTCCTACA	0.507000													137	248					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387498	20387498	+	Silent	SNP	G	G	A	rs140175402	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:20387498G>A	ENST00000302451.4	-	4	683	c.435C>T	c.(433-435)gtC>gtT	p.V145V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	145					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCAACCAAACGACTAAGGCAG	0.458000													25	20					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180050984	180050984	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:180050984G>A	ENST00000261937.6	-	11	1577	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	FLT4_ENST00000502649.1_Missense_Mutation_p.P500L|FLT4_ENST00000393347.3_Missense_Mutation_p.P500L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	500	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCTCGATGGGGTTCACGGC	0.637000													15	51					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950674	115950674	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:115950674G>A	ENST00000238256.3	-	13	1388	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	424					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTACCCTGTGAGGTCATCTG	0.532000													26	31					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633487	46633487	+	Missense_Mutation	SNP	C	C	T	rs75571325		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:46633487C>T	ENST00000398637.5	-	3	791	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SLC38A1_ENST00000549049.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000549633.1_Intron|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E33K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	33					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.E33K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTTCTACTTCGGTGAAATCA	0.388000													15	52					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629378	9629378	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:9629378C>T	ENST00000382492.2	-	1	1085	c.767G>A	c.(766-768)aGg>aAg	p.R256K	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	256					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAGATGAACCTTCTGATGTG	0.388000													11	53					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307866	10307866	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10307866G>A	ENST00000403437.2	-	22	2563	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	823					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTTCATGAAGGCACGGACAT	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	20					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987545	61987545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61987545C>T	ENST00000450719.3	-	3	403	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	CSHL1_ENST00000259003.10_Missense_Mutation_p.E88K|CSHL1_ENST00000346606.6_Missense_Mutation_p.E56K|CSHL1_ENST00000561003.1_Missense_Mutation_p.E67K|CSHL1_ENST00000438387.2_Missense_Mutation_p.E67K|CSHL1_ENST00000309894.5_Missense_Mutation_p.E150K|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	150						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGGATGCCTTCCTCTAGGTCC	0.602000													23	72					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210592	100210592	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:100210592G>A	ENST00000317233.4	-	14	1766	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	AFF3_ENST00000409236.1_Missense_Mutation_p.P511S|AFF3_ENST00000409579.1_Missense_Mutation_p.P536S|AFF3_ENST00000356421.2_Missense_Mutation_p.P536S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	511					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAAACGTCGGGGACTTTCCCA	0.547000													83	34					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													3	9					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98508732	98508732	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:98508732C>T	ENST00000359863.4	+	17	2054	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	TRRAP_ENST00000446306.3_Silent_p.I614I|TRRAP_ENST00000355540.3_Silent_p.I615I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	615					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATACATCCGTGTGGCCA	0.453000													21	28					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681097	161681097	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161681097C>T	ENST00000367959.2	+	4	643	c.401C>T	c.(400-402)aCc>aTc	p.T134I	FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.T128I|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.T111I|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.T117I|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.T117I	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	111	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACTCAGGTGACCTTCTACCGA	0.597000													23	37					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41098844	41098844	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:41098844G>A	ENST00000372684.3	-	5	838	c.369C>T	c.(367-369)ttC>ttT	p.F123F	RIMS3_ENST00000372683.1_Silent_p.F123F	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	123					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GGGTAGTGGGGAAGATGAACC	0.617000													20	70					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61392013	61392013	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61392013C>T	ENST00000424789.2	+	8	1206	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	TANC2_ENST00000389520.4_Missense_Mutation_p.P401L|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	401							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCAGACAGCCCACATGCCTCC	0.458000													28	180					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689736	25689736	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:25689736G>A	ENST00000377961.2	+	9	777	c.609G>A	c.(607-609)gaG>gaA	p.E203E	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	203	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGGACTTTGAGAAAATCTTTG	0.398000													29	125					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442487	114442487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114442487G>A	ENST00000369566.3	-	3	1019	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Intron|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369569.1_Intron			Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	0					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		CTTGCTGGCTGGTCTAGGTTC	0.478000													57	118					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825610	196825610	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196825610T>A	ENST00000312428.6	-	18	2365	c.2265A>T	c.(2263-2265)caA>caT	p.Q755H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	755	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTTTACGTTGAGGATATA	0.368000													37	14					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538563	39538563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39538563C>T	ENST00000394001.1	-	1	92	c.62G>A	c.(61-63)aGa>aAa	p.R21K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	21	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGTTTGAGTCTCTCCTTCCT	0.488000													6	57					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551957	100551957	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100551957C>A	ENST00000319509.7	+	1	708	c.708C>A	c.(706-708)tcC>tcA	p.S236S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCATCTGGTCCTCAACACCCA	0.413000													140	631					1.02229e-66	1.04595e-66	1	1	0
AGXT2	64902	broad.mit.edu	37	5	35003948	35003948	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:35003948G>A	ENST00000231420.6	-	13	1557	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	453					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCTTCACGGGGAAGAGGCCGA	0.383000											OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	32					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57157076	57157076	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:57157076G>A	ENST00000371244.4	+	3	312	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	82	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GATACCAGGTGATCAGCACTC	0.308000													20	23					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065549	55065549	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55065549G>A	ENST00000526016.1	-	0	159					NR_038174.2																						ACAAATGTCAGTGTTGAGGTT	0.478000													9	9					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127728915	127728915	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:127728915G>A	ENST00000508053.1	-	16	2352	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	FBN2_ENST00000508989.1_Missense_Mutation_p.P427S|FBN2_ENST00000262464.4_Missense_Mutation_p.P460S			P35556	FBN2_HUMAN	fibrillin 2	460					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAGGGATGGGGATGAAGCCT	0.607000													40	65					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167390	140167390	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140167390G>A	ENST00000504120.2	+	1	1515	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	PCDHA1_ENST00000394633.3_Silent_p.S505S|PCDHA1_ENST00000378133.3_Silent_p.S505S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCTGTCGAACTACGTGT	0.682000													22	68					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7066933	7066933	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7066933C>T	ENST00000456013.1	+	10	1433	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	PTPN6_ENST00000447931.2_Silent_p.V358V|PTPN6_ENST00000399448.1_Silent_p.V399V|PTPN6_ENST00000318974.9_Silent_p.V397V	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	397	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTTACAGGTCTCCCCGCTGG	0.607000													13	31					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73453413	73453413	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:73453413G>A	ENST00000263666.4	-	4	1166	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S68F|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S73F|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S8F|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S8F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	351							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CACCAGCTGAGACTCTGATGG	0.537000													18	46					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919635	12919635	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12919635C>T	ENST00000240189.2	+	3	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	125										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTGCTTCCCAGAGGCCA	0.537000													67	218					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152560826	152560826	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:152560826G>A	ENST00000367255.5	-	108	20510	c.19909C>T	c.(19909-19911)Ctg>Ttg	p.L6637L	SYNE1_ENST00000356820.4_Silent_p.L1161L|SYNE1_ENST00000265368.4_Silent_p.L6637L|SYNE1_ENST00000423061.1_Silent_p.L6566L|SYNE1_ENST00000341594.5_Silent_p.L6249L|SYNE1_ENST00000448038.1_Silent_p.L6566L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6637					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)		TGAGATTCCAGGCCCTGAAAG	0.423000										HNSCC(10;0.0054)			12	10					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496519	17496519	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:17496519G>A	ENST00000302539.4	-	2	329	c.204C>T	c.(202-204)ttC>ttT	p.F68F	ABCC8_ENST00000389817.3_Silent_p.F68F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	68					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTGCCCAGGGAAATGAAGCC	0.572000													7	27					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201838	135201838	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:135201838A>T	ENST00000372169.2	-	10	5329	c.5147T>A	c.(5146-5148)tTt>tAt	p.F1716Y	SETX_ENST00000224140.5_Missense_Mutation_p.F1716Y|SETX_ENST00000393220.1_Missense_Mutation_p.F1716Y			Q7Z333	SETX_HUMAN	senataxin	1716					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACACTGACCAAAGTTCAAAAA	0.393000													9	27					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94578550	94578550	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:94578550G>A	ENST00000370225.3	-	2	225	c.139C>T	c.(139-141)Cca>Tca	p.P47S	ABCA4_ENST00000535735.1_Missense_Mutation_p.P47S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	47					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTAGAGTGGGTTGGCATTC	0.448000													33	43					0	0	1	0	0
HMOX1	3162	broad.mit.edu	37	22	35782688	35782688	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:35782688C>A	ENST00000216117.8	+	3	494	c.155C>A	c.(154-156)gCc>gAc	p.A52D		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	52					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTGGTGATGGCCTCCCTGTAC	0.602000													13	17					1.5842e-08	1.602e-08	1	1	0
LIF	3976	broad.mit.edu	37	22	30639988	30639988	+	Missense_Mutation	SNP	C	C	T	rs112776523		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:30639988C>T	ENST00000403987.3	-	2	125	c.82G>A	c.(82-84)Gga>Aga	p.G28R	LIF_ENST00000249075.3_Silent_p.T87T	NM_001257135.1	NP_001244064.1	P15018	LIF_HUMAN	leukemia inhibitory factor	0					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCGGGAAGTCCGTCACGTTGG	0.632000													6	37					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858153	9858153	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:9858153T>G	ENST00000396573.2	-	14	3557	c.3248A>C	c.(3247-3249)aAg>aCg	p.K1083T	GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1083T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1083T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K926T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1083T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1083T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1083					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAGTTGTCCTTGGTTTTGTG	0.493000													30	83					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168431	36168431	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36168431C>T	ENST00000357641.6	+	2	585	c.332C>T	c.(331-333)tCc>tTc	p.S111F	BRPF3_ENST00000534694.1_Missense_Mutation_p.S111F|BRPF3_ENST00000543502.1_Missense_Mutation_p.S111F|BRPF3_ENST00000339717.7_Missense_Mutation_p.S111F|BRPF3_ENST00000443324.2_Missense_Mutation_p.S111F|BRPF3_ENST00000534400.1_Missense_Mutation_p.S111F	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	111					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCTGGTACTTCCTTCCACCTC	0.547000													14	113					0	0	1	0	0
GATS	352954	broad.mit.edu	37	7	99869515	99869515	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99869515G>A	ENST00000436886.2	-	1	340	c.92C>T	c.(91-93)tCc>tTc	p.S31F	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		31										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAACAGCGGGATACTCTCCT	0.667000													20	41					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709080	78709080	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:78709080C>T	ENST00000286627.5	-	21	3307	c.2355G>A	c.(2353-2355)gtG>gtA	p.V785V	KCNMA1_ENST00000404771.3_Silent_p.V843V|KCNMA1_ENST00000372440.1_Silent_p.V785V|KCNMA1_ENST00000372443.1_Silent_p.V785V|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.V843V|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.V846V|KCNMA1_ENST00000406533.3_Silent_p.V847V|KCNMA1_ENST00000404857.1_Silent_p.V826V	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	843					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGATGCAGACCACGACATGGC	0.552000													9	15					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187927	32187927	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32187927C>T	ENST00000375023.3	-	7	1432	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	432	EGF-like 11; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGTCCAGGTCCTGGTGGCAG	0.612000													27	41					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	396968	396968	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:396968C>T	ENST00000331563.2	+	3	543	c.467C>T	c.(466-468)cCc>cTc	p.P156L	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	156					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACCCCTCCCATGCCCACC	0.716000													3	9					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676374	11676374	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:11676374C>T	ENST00000423059.3	-	2	656	c.405G>A	c.(403-405)gtG>gtA	p.V135V	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	135						integral to membrane				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)		TTTTTGAAATCACGGGCTGAC	0.468000										HNSCC(18;0.044)			12	33					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310058	24310058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:24310058C>T	ENST00000357002.4	+	4	1371	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	ZNF254_ENST00000342944.6_Missense_Mutation_p.S334L	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	419					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATCGATCTTCAAATCTTACT	0.348000													9	12					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8732742	8732742	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:8732742C>T	ENST00000534127.1	-	13	2594	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	ST5_ENST00000530991.1_Missense_Mutation_p.E209K|ST5_ENST00000357665.1_Missense_Mutation_p.E737K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.E250K|ST5_ENST00000530438.1_Missense_Mutation_p.E317K|ST5_ENST00000526757.1_Missense_Mutation_p.E317K|ST5_ENST00000313726.6_Missense_Mutation_p.E737K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	737	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTGAGCCTTTCCTCTGCCTCT	0.592000													19	49					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:70066197C>T	ENST00000446444.1	-	6	1559	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	517					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGCAAACTTCCAGAAACAAA	0.403000													25	39					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52940138	52940138	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52940138G>A	ENST00000394752.3	-	20	2833	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	SFMBT1_ENST00000358080.2_Silent_p.F817F|SFMBT1_ENST00000394750.1_Silent_p.F817F|SFMBT1_ENST00000296295.6_Intron	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	817	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCTGGTCTAGGAATATTCTTG	0.383000													16	38					0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6914202	6914202	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:6914202G>A	ENST00000330590.2	-	1	54	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	6					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGGCAGCAAGGATGGCGATGG	0.587000													7	44					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739211	119739211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:119739211C>T	ENST00000541757.1	+	11	1026	c.646C>T	c.(646-648)Cct>Tct	p.P216S	MARCO_ENST00000327097.4_Missense_Mutation_p.P294S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	294	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCTGGTTTTCCTGGAGCTAA	0.443000													33	12					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50906820	50906820	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50906820G>A	ENST00000380817.2	-	2	309	c.126C>T	c.(124-126)ccC>ccT	p.P42P	SBF1_ENST00000390679.3_Silent_p.P42P|SBF1_ENST00000348911.6_Silent_p.P42P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	42	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGATGCCCTGGGGGAATGGGT	0.662000													14	21					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68475888	68475888	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:68475888T>A	ENST00000255087.5	-	10	1598	c.1415A>T	c.(1414-1416)aAa>aTa	p.K472I		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	472					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCAGTGTTCTTTCTCGGCCTC	0.532000													15	35					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851924	76851924	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76851924G>A	ENST00000262768.7	-	5	786	c.488C>T	c.(487-489)cCg>cTg	p.P163L	RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000536189.2_Missense_Mutation_p.P86L|TIMP2_ENST00000585421.1_Missense_Mutation_p.P86L|TIMP2_ENST00000586057.1_Missense_Mutation_p.P86L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	163							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GATGTAGCACGGGATCATGGG	0.637000													12	79					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307369	47307369	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:47307369G>A	ENST00000377065.4	-	5	2439	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	ZNF41_ENST00000313116.7_Silent_p.I600I|ZNF41_ENST00000397050.2_Silent_p.I610I	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTCCTGTATGGATTCTCTGAT	0.443000													25	11					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204971739	204971739	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:204971739A>T	ENST00000367172.4	+	29	3801	c.3473A>T	c.(3472-3474)aAa>aTa	p.K1158I	NFASC_ENST00000339876.6_Missense_Mutation_p.K1051I|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.K1143I|NFASC_ENST00000338586.6_Missense_Mutation_p.K1035I|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.K1079I|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.K1051I			O94856	NFASC_HUMAN	neurofascin	1158	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATACGAAAAAAACTGTCCCA	0.552000													7	8					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100720413	100720413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:100720413C>T	ENST00000360820.2	+	12	1960	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	508					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CGTGTAAATTCATTAGTGTGC	0.303000													9	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408788	179408788	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179408788G>A	ENST00000589042.1	-	346	96307	c.96083C>T	c.(96082-96084)gCt>gTt	p.A32028V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A29460V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A30387V|TTN_ENST00000359218.5_Missense_Mutation_p.A23088V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A22963V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A23155V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30387	Ig-like 142.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGCCCCAGCCCTGATGGT	0.458000													13	63					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	674723	674723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:674723G>A	ENST00000382409.3	-	10	1800	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	DEAF1_ENST00000338675.6_Missense_Mutation_p.P350L|DEAF1_ENST00000525904.1_5'UTR|RP11-754B17.1_ENST00000527799.1_RNA	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	439	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	p.P439L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GACCAACGCGGGAGGTGCCGC	0.562000													37	75					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149995	129149995	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:129149995C>T	ENST00000540052.1	+	3	3291	c.3247C>T	c.(3247-3249)Cgg>Tgg	p.R1083W	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1083W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1083W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1083W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1083					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGCTGAAGTTCGGGCTAAGGC	0.572000													24	47					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279796	39279796	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39279796G>A	ENST00000394014.1	-	1	623	c.579C>T	c.(577-579)ccC>ccT	p.P193P		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	193						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACAGCACAAGGGGCGGGGGC	0.577000													3	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614044	179614044	+	Silent	SNP	C	C	T	rs141449154		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179614044C>T	ENST00000360870.5	-	46	13305	c.13083G>A	c.(13081-13083)ggG>ggA	p.G4361G	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	495	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCTCTTTCCCTTCAGCCT	0.388000													40	23					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436372	72436372	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:72436372G>A	ENST00000392627.1	+	2	1718	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	GPRC5C_ENST00000392629.2_Missense_Mutation_p.G165S|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	153						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CGGGCCCCGGGGCTGGGTGAT	0.602000													14	129					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52844184	52844184	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:52844184C>T	ENST00000351072.1	+	4	313	c.247C>T	c.(247-249)Cct>Tct	p.P83S	XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000425386.1_Missense_Mutation_p.P83S|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Missense_Mutation_p.P83S			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	83										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						CGGAGATAGTCCTGATGTCCA	0.423000													22	4					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883808	63883808	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:63883808G>A	ENST00000246841.3	+	2	1112	c.69G>A	c.(67-69)gtG>gtA	p.V23V	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	0	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ccaccgttgtgatgaccacgg	0.682000													8	6					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616405	248616405	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248616405T>A	ENST00000342927.3	+	1	329	c.307T>A	c.(307-309)Ttc>Atc	p.F103I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTTCAGATCTTCCTCTACCT	0.532000													16	122					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941622	53941622	+	Silent	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:53941622T>C	ENST00000263634.3	-	7	1013	c.879A>G	c.(877-879)gaA>gaG	p.E293E	ASB3_ENST00000406625.2_Silent_p.E328E|GPR75-ASB3_ENST00000406687.1_Silent_p.E220E|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000352846.3_Silent_p.E331E|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Silent_p.E220E	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		328					intracellular signal transduction												CTAGGCAATCTTCATGTCCCC	0.473000													72	29					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9764272	9764272	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9764272C>T	ENST00000448622.1	-	6	796	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	ZNF562_ENST00000541032.1_Missense_Mutation_p.G175S|ZNF562_ENST00000293648.4_Missense_Mutation_p.G140S|ZNF562_ENST00000453792.2_Missense_Mutation_p.G143S|ZNF562_ENST00000453372.2_Missense_Mutation_p.G212S|ZNF562_ENST00000537617.1_Missense_Mutation_p.G96S|ZNF562_ENST00000590155.1_Missense_Mutation_p.G211S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TACTTAAAGCCTTTTCCACAT	0.408000													8	25					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431764	140431764	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140431764G>A	ENST00000306549.3	+	1	786	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D237N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGTCAACGACCACGTGCC	0.597000													7	18					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42302195	42302195	+	Silent	SNP	G	G	A	rs149457553		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:42302195G>A	ENST00000342228.3	-	6	1068	c.699C>T	c.(697-699)ttC>ttT	p.F233F	SLC20A2_ENST00000520262.1_Silent_p.F233F|SLC20A2_ENST00000520179.1_Silent_p.F233F	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	233					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACGGACACACGAAGAGCCACA	0.488000													15	45					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479988	142479988	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142479988C>T	ENST00000603901.1	+	0	120					NR_001296.3																						ACCAGGTGTCCTTGAATTCTG	0.557000													50	142					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814722	106814722	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:106814722G>A	ENST00000407775.2	+	8	2662	c.2412G>A	c.(2410-2412)acG>acA	p.T804T	ZFPM2_ENST00000378472.4_Silent_p.T535T|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T672T|ZFPM2_ENST00000520492.1_Silent_p.T672T|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	804					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.T804T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTCTCTGACGATCAACAAGT	0.443000													6	15					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664110	169664110	+	RNA	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:169664110A>G	ENST00000483289.2	-	0	3184				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CCTTCCCTTTAGAGAAGAAGC	0.488000													7	43					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734706	52734706	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:52734706C>T	ENST00000306051.2	+	1	276	c.174C>T	c.(172-174)ccC>ccT	p.P58P	PTGDR_ENST00000553372.1_Silent_p.P58P	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	58						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCCCGCTGCCCTCGGTCTTCT	0.692000													7	21					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201030407	201030407	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:201030407C>T	ENST00000362061.3	-	25	3469	c.3243G>A	c.(3241-3243)ctG>ctA	p.L1081L	CACNA1S_ENST00000367338.3_Silent_p.L1081L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1081					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTTCTTGTCCAGCTCACAGT	0.567000													13	22					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778120	40778120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:40778120G>A	ENST00000381782.2	+	7	1375	c.880G>A	c.(880-882)Gat>Aat	p.D294N	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.D294N	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAATATGGATGATGATGTCTT	0.343000													16	55					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739944	38739944	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38739944C>T	ENST00000449082.2	-	27	4766	c.4767G>A	c.(4765-4767)gcG>gcA	p.A1589A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1589					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCCCTTGGCCGCTCGGATCA	0.522000													29	74					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626295	154626295	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:154626295C>T	ENST00000260010.6	+	1	3644	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	746	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AAAAGCCATTCCCCAGCGCTT	0.488000													24	62					0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180060	74180060	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:74180060G>A	ENST00000300504.2	+	9	960	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	TBC1D21_ENST00000535547.2_Missense_Mutation_p.G257R|TBC1D21_ENST00000562056.1_Missense_Mutation_p.G256R	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	293						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AAGCATGGGCGGGGATGACAT	0.647000													25	116					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59158012	59158012	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:59158012G>A	ENST00000262717.4	+	2	624	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CDH20_ENST00000538374.1_Missense_Mutation_p.D76N|CDH20_ENST00000536675.2_Missense_Mutation_p.D76N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CACTGGGACCGACCCTTTGTA	0.453000													37	22					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121310	38121310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:38121310G>A	ENST00000395867.3	-	6	1523	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R325C|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTATATTCACGGAGAATCTTT	0.358000													13	73					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027179	37027179	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:37027179C>T	ENST00000358047.3	+	1	748	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	232										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCAGGTGTCCAGTCTCCACC	0.652000													27	15					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:36039616C>T	ENST00000282507.3	-	5	1139	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_ENST00000513300.1_Silent_p.V312V|UGT3A2_ENST00000545528.1_Silent_p.V44V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000													49	34					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													5	401					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845043	80845043	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:80845043C>T	ENST00000533983.1	+	11	1323	c.984C>T	c.(982-984)tcC>tcT	p.S328S	ARNT2_ENST00000303329.4_Silent_p.S339S|ARNT2_ENST00000527771.1_Silent_p.S328S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	339	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGTTCTTATCCCGGCATAACT	0.493000													23	81					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109055900	109055900	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:109055900G>A	ENST00000261401.3	-	4	525	c.353C>T	c.(352-354)tCc>tTc	p.S118F	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Missense_Mutation_p.S13F|CORO1C_ENST00000541050.1_Missense_Mutation_p.S118F|CORO1C_ENST00000549772.1_Missense_Mutation_p.S124F|CORO1C_ENST00000420959.2_Missense_Mutation_p.S171F	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	118					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TTCAGTCAGGGAAAGGGTGAG	0.488000													5	26					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349290	65349290	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:65349290C>T	ENST00000284037.5	+	21	2533	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S715L|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S711L|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S715L|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S715L|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S715L|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S715L|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S715L|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S715L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	715					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTAAACAGTTCAACAGAGGAA	0.269000													21	57					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405653	50405653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:50405653C>T	ENST00000435965.1	-	25	2253	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D687N|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D694N|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D687N|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D618N|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D687N|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D687N|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D694N			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	694					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCATTCAGGTCCTTGCAGTAC	0.557000													41	55					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821475	151821475	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:151821475C>T	ENST00000370306.2	+	9	1650	c.1630C>T	c.(1630-1632)Ctt>Ttt	p.L544F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	544						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCGACTGCCTTGCCATTAA	0.527000													53	11					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117244292	117244292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:117244292C>T	ENST00000332958.2	+	14	1476	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	487					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AATGGAAGGTCATTAAAGAAG	0.368000													23	23					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69179937	69179937	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:69179937G>A	ENST00000344157.4	-	17	2399	c.2064C>T	c.(2062-2064)gaC>gaT	p.D688D	YTHDC1_ENST00000579690.1_Silent_p.D696D|YTHDC1_ENST00000355665.3_Silent_p.D670D	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	688	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctagggcggtctcgctctc	0.512000													4	13					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30114963	30114963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30114963G>A	ENST00000396581.1	+	4	1029	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TRIM40_ENST00000307859.4_Missense_Mutation_p.E186K|TRIM40_ENST00000376724.2_Missense_Mutation_p.E215K			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	215			E -> K (in dbSNP:rs757259).			intracellular	zinc ion binding			ovary(1)	1						GACGGCCAAGGAATTAGACAC	0.567000													42	62					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369771	139369771	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139369771G>A	ENST00000313050.7	-	1	2370	c.2297C>T	c.(2296-2298)tCc>tTc	p.S766F	SEC16A_ENST00000371706.3_Missense_Mutation_p.S588F|SEC16A_ENST00000290037.6_Missense_Mutation_p.S588F|SEC16A_ENST00000431893.2_Missense_Mutation_p.S588F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	588					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCTGCCCGGACATCGCCTC	0.597000													13	21					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587777	247587777	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:247587777C>T	ENST00000366497.2	+	4	1812	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	NLRP3_ENST00000348069.2_Silent_p.A344A|NLRP3_ENST00000391827.2_Silent_p.A344A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.A344A|NLRP3_ENST00000336119.3_Silent_p.A344A|NLRP3_ENST00000391828.3_Silent_p.A344A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	344	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCCCGAGGCCTCTCTGCTCA	0.582000													32	22					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100011405	100011405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:100011405C>T	ENST00000260702.3	-	13	2156	c.2006G>A	c.(2005-2007)gGc>gAc	p.G669D		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	669	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTCCCAGCAGCCTACAGTCAC	0.562000													8	37					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899960	156899960	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156899960C>T	ENST00000311946.7	+	6	1509	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	NIPAL4_ENST00000435489.2_Missense_Mutation_p.H446Y|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	465						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ATTTATAATCCATTCCTGAAG	0.438000													12	39					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:38691476C>T	ENST00000261438.5	+	4	976	c.671C>T	c.(670-672)tCc>tTc	p.S224F	KLF3_ENST00000514033.1_Missense_Mutation_p.S224F	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423000													56	65					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:4479941G>A	ENST00000237837.1	-	3	469	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000													15	53					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511437	242511437	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:242511437G>A	ENST00000442594.2	-	3	523	c.14C>T	c.(13-15)tCt>tTt	p.S5F	PLD5_ENST00000427495.1_Silent_p.L37L|PLD5_ENST00000536534.1_Silent_p.L99L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	0						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTTTTTCTGAGAGTCCATCCT	0.453000													25	58					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12896263	12896263	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:12896263G>A	ENST00000338034.4	-	24	2592	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ELAC2_ENST00000426905.3_Missense_Mutation_p.R745W|ELAC2_ENST00000395962.2_Missense_Mutation_p.R766W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	785					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CGCAGCTCCCGCTTCTCCCTG	0.652000													12	47					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861599	52861599	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:52861599C>T	ENST00000343457.3	-	4	1595	c.1589G>A	c.(1588-1590)aGg>aAg	p.R530K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	530						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATATCATTCCTATGGATGTG	0.507000													31	73					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903282	76903282	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:76903282G>A	ENST00000409709.3	+	31	4383	c.4111G>A	c.(4111-4113)Gtg>Atg	p.V1371M	MYO7A_ENST00000409619.2_Missense_Mutation_p.V1360M|MYO7A_ENST00000458637.2_Missense_Mutation_p.V1371M	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1371	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTACCAGCAGGTGGTGCGAGG	0.617000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	45					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158323802C>T	ENST00000444681.2	+	1	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368166.3_Silent_p.F8F|CD1E_ENST00000368161.3_Silent_p.F8F|CD1E_ENST00000368157.1_Silent_p.F8F|CD1E_ENST00000368156.1_Silent_p.F8F|CD1E_ENST00000368160.3_Silent_p.F8F|CD1E_ENST00000368165.3_Silent_p.F8F|CD1E_ENST00000368155.3_Silent_p.F8F|CD1E_ENST00000368163.3_Silent_p.F8F|CD1E_ENST00000368167.3_Silent_p.F8F|CD1E_ENST00000368164.3_Silent_p.F8F|CD1E_ENST00000452291.2_Silent_p.F8F|CD1E_ENST00000368154.1_Silent_p.F8F	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	8					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000													20	27					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73558715	73558715	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:73558715C>T	ENST00000339362.5	+	17	2904	c.2457C>T	c.(2455-2457)atC>atT	p.I819I	NEO1_ENST00000261908.6_Silent_p.I819I|NEO1_ENST00000558964.1_Silent_p.I819I|NEO1_ENST00000560262.1_Silent_p.I819I			Q92859	NEO1_HUMAN	neogenin 1	819	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTGAAGGCATCCCCCTGTATG	0.438000													77	78					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493650	60493650	+	Missense_Mutation	SNP	G	G	A	rs146706371	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:60493650G>A	ENST00000450662.2	+	12	1504	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	EFCAB3_ENST00000305286.3_Missense_Mutation_p.R426K	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	426							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GACTCAGGAAGAAAAAGAAAA	0.333000													38	81					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326802	142326802	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142326802G>A	ENST00000390393.3	+	0	308																											GTTCAGAAAGGAAGGACAGAA	0.517000													40	63					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082361	78082361	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78082361C>T	ENST00000302262.3	+	7	1368	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	GAA_ENST00000390015.3_Silent_p.I383I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	383					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACCGCTATCACCCGCCAGG	0.667000													14	20					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5718514	5718514	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5718514G>A	ENST00000379965.3	+	3	737	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	154					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGATAAAGGAGGATCAAGA	0.463000											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071657	9071657	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9071657T>A	ENST00000397910.4	-	3	15992	c.15789A>T	c.(15787-15789)aaA>aaT	p.K5263N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5265	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCTGCAGATTTTGTCTTAA	0.512000													16	54					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739150	62739150	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:62739150G>A	ENST00000371153.4	-	3	2004	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	542										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTTCCCTGGGAGATTGGAAC	0.612000													18	47					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489801	124489801	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124489801C>T	ENST00000284288.2	+	4	1216	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	383					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCAAACACCTCACCAACTCGG	0.423000													15	33					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015491	93015491	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:93015491G>A	ENST00000333334.2	+	1	608	c.113G>A	c.(112-114)gGa>gAa	p.G38E	C15orf32_ENST00000556865.1_Missense_Mutation_p.G38E	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TCCCCAAGAGGAGAAGGAACG	0.547000													11	169					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976306	121976306	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:121976306C>T	ENST00000265922.3	-	6	1274	c.813G>A	c.(811-813)gaG>gaA	p.E271E	DBC1_ENST00000373964.2_Silent_p.E271E	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		271					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCGGAAACTCCTCGGCACATT	0.557000													20	52					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90190149	90190149	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90190149G>A	ENST00000394412.3	-	7	1776	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	567					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCCCCCAGGGGGGCTGTATG	0.692000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	136					0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1177978	1177978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:1177978G>A	ENST00000330388.2	-	8	890	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	287						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGATGGTGAGGACGGCCCCG	0.687000													3	9					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430377	36430377	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:36430377C>T	ENST00000588831.1	+	3	1104	c.50C>T	c.(49-51)tCa>tTa	p.S17L	LRFN3_ENST00000246529.3_Missense_Mutation_p.S17L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	17					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCTGCCTCATCCCCACCC	0.706000													10	51					0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58504103	58504103	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:58504103C>T	ENST00000269127.4	+	4	438	c.354C>T	c.(352-354)ctC>ctT	p.L118L		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	118										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TCATCTCCCTCTTCTCGGAGC	0.602000													5	22					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479070	78479070	+	Nonsense_Mutation	SNP	C	C	T	rs141666453		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:78479070C>T	ENST00000370763.5	+	2	804	c.547C>T	c.(547-549)Cga>Tga	p.R183*	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	183					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	p.R183G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGATTTCTCGAAAAAGGCT	0.398000													26	40					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747291	158747291	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158747291G>C	ENST00000339258.1	-	1	134	c.135C>G	c.(133-135)atC>atG	p.I45M		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGACTGAGAAGATGAGCATGT	0.488000													49	77					0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990243	990243	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:990243C>T	ENST00000251289.5	+	4	499	c.476C>T	c.(475-477)tCc>tTc	p.S159F	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Missense_Mutation_p.S159F	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	159										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGACCCCTCCAGGATTCCG	0.731000													9	13					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87780584	87780584	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87780584G>A	ENST00000398204.4	+	20	1953	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	ADAM22_ENST00000265727.7_Missense_Mutation_p.G544R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G544R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G544R|ADAM22_ENST00000398201.4_Missense_Mutation_p.G544R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	544	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AATTTGCTTTGGAGGAAGATG	0.368000													18	48					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511324	58511324	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:58511324C>T	ENST00000588627.1	-	0	2033																											TCTGGTGGTTCCTTGAGGGCT	0.483000													9	30					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594257	136594257	+	Silent	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:136594257G>T	ENST00000264162.2	-	1	493	c.483C>A	c.(481-483)tcC>tcA	p.S161S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	161	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTCCCCGAAGGAGTGGAAGG	0.577000													5	24					3.59834e-05	3.61988e-05	1	1	0
KLHDC1	122773	broad.mit.edu	37	14	50176463	50176463	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:50176463C>T	ENST00000359332.2	+	3	294	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	68						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TCCCAGCCTCCATGTCAGGAA	0.388000													22	10					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987536	61987536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61987536G>A	ENST00000450719.3	-	3	412	c.175C>T	c.(175-177)Caa>Taa	p.Q59*	CSHL1_ENST00000259003.10_Nonsense_Mutation_p.Q91*|CSHL1_ENST00000346606.6_Nonsense_Mutation_p.Q59*|CSHL1_ENST00000561003.1_Nonsense_Mutation_p.Q70*|CSHL1_ENST00000438387.2_Nonsense_Mutation_p.Q70*|CSHL1_ENST00000309894.5_Nonsense_Mutation_p.Q153*|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	153						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATCAGCATTTGGATGCCTTCC	0.582000													18	78					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14487582	14487582	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:14487582C>T	ENST00000344204.4	+	48	6869	c.6845C>T	c.(6844-6846)tCg>tTg	p.S2282L	TRIO_ENST00000537187.1_Missense_Mutation_p.S2282L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2282					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTTGACATCGCCAATCGAG	0.736000													26	21					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30883591	30883591	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30883591C>T	ENST00000321897.5	+	4	1085	c.453C>T	c.(451-453)tcC>tcT	p.S151S	VARS2_ENST00000416670.2_Silent_p.S151S|VARS2_ENST00000542001.1_Silent_p.S11S|VARS2_ENST00000541562.1_Silent_p.S181S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	151					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCACTGGCTCCCTGCACATTG	0.572000													43	56					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282875	37282875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:37282875G>A	ENST00000373091.3	-	13	1893	c.1877C>T	c.(1876-1878)tCt>tTt	p.S626F	GRIK3_ENST00000373093.4_Missense_Mutation_p.S626F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	626					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATCAGCTCAGACCCTGGGCG	0.537000													26	15					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039010	11039010	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:11039010C>T	ENST00000470054.1	-	0	1193									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGAAACATCTTTCACACAA	0.388000													24	289					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260436	44260436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:44260436G>A	ENST00000315087.7	-	7	1360	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R203C|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R270C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	234					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCAGCACGCGATAGAACGGC	0.637000													5	9					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27432322	27432322	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:27432322G>A	ENST00000374086.3	-	5	1802	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLC9A1_ENST00000263980.3_Intron|SLC9A1_ENST00000545949.1_Intron			P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	16					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ctttccacgggaacagcctgT	0.567000													4	18					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247766	56247766	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:56247766C>T	ENST00000545221.1	+	1	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTCCATGATCTTCGTTCCAA	0.537000													37	100					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165724	53165724	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53165724C>T	ENST00000332411.2	-	6	1247	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	398	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTCACTCTTGGTGTTCC	0.522000													21	66					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303337	151303337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:151303337C>T	ENST00000370323.4	-	4	1072	c.756G>A	c.(754-756)atG>atA	p.M252I	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.M252I	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	252	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCATCATATTCAGTG	0.522000													51	33					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241728295	241728295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:241728295G>A	ENST00000366559.4	+	8	935	c.624G>A	c.(622-624)atG>atA	p.M208I	KMO_ENST00000366557.4_Missense_Mutation_p.M208I|KMO_ENST00000366558.3_Missense_Mutation_p.M208I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	208					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.M208I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AGTATGCCATGGAACCTAATT	0.303000													20	16					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941624	53941624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:53941624C>T	ENST00000263634.3	-	7	1011	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	ASB3_ENST00000406625.2_Missense_Mutation_p.E328K|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.E220K|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E331K|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.E220K	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		328					intracellular signal transduction												AGGCAATCTTCATGTCCCCCA	0.463000													72	29					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117634561	117634561	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:117634561T>G	ENST00000369466.3	+	17	2838	c.2794T>G	c.(2794-2796)Tta>Gta	p.L932V		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	932					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCATCTTTCTTTACTGAAGTC	0.532000													17	63					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50318525	50318525	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:50318525C>A	ENST00000404971.1	-	20	5113	c.3774G>T	c.(3772-3774)acG>acT	p.T1258T	NRXN1_ENST00000402717.3_Silent_p.T1210T|NRXN1_ENST00000406316.2_Silent_p.T1218T|NRXN1_ENST00000401669.2_Silent_p.T1218T|NRXN1_ENST00000405472.3_Silent_p.T1210T|NRXN1_ENST00000401710.1_Silent_p.T236T|NRXN1_ENST00000406859.3_Silent_p.T1218T|NRXN1_ENST00000342183.5_Silent_p.T183T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1218	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACCACTCCTCGTGAAACGAA	0.448000													33	73					4.65686e-17	4.74729e-17	1	1	0
TSEN34	79042	broad.mit.edu	37	19	54697191	54697191	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:54697191T>A	ENST00000396383.1	+	5	1218	c.907T>A	c.(907-909)Tcc>Acc	p.S303T	TSEN34_ENST00000302937.4_Missense_Mutation_p.S303T|TSEN34_ENST00000396388.2_Missense_Mutation_p.S303T|TSEN34_ENST00000429671.2_Intron			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	303					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCTACACCTCCCTGCAATG	0.597000													8	19					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73987680	73987680	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73987680C>T	ENST00000553558.1	-	4	1266	c.945G>A	c.(943-945)gaG>gaA	p.E315E	HEATR4_ENST00000334988.2_Silent_p.E315E|HEATR4_ENST00000560393.1_Silent_p.E268E	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATGGATATCCTCAGTGCTCT	0.527000													17	41					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922456	24922456	+	Missense_Mutation	SNP	G	G	A	rs142027848		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922456G>A	ENST00000329468.2	+	1	1916	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AATGAGAAAGGAGGCTCTTAT	0.502000													36	228					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72189840	72189840	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:72189840G>A	ENST00000356056.5	-	25	5476	c.5004C>T	c.(5002-5004)ccC>ccT	p.P1668P	MYO9A_ENST00000424560.1_Silent_p.P1668P|MYO9A_ENST00000444904.1_Silent_p.P1649P|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.P1288P|MYO9A_ENST00000564571.1_Silent_p.P1668P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1668	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGAAGAAAATGGGCCTAGCAT	0.368000													11	53					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583257	135583257	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:135583257G>A	ENST00000513104.1	-	7	2028	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	TRPC7_ENST00000355180.3_Silent_p.F521F|TRPC7_ENST00000426057.2_Silent_p.F466F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	582					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAATGACCATGAACTTGAAGA	0.463000													16	76					0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124183730	124183730	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:124183730C>T	ENST00000368988.1	+	9	820	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R233C|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R233C|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R233C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R233C			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	233	PH 2.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAACCTCTTCGTGTAATACC	0.338000													4	17					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48136182	48136182	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:48136182G>A	ENST00000264316.4	-	1	91	c.6C>T	c.(4-6)atC>atT	p.I2I	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	2						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGGAGGAAAGGATCATGGTAG	0.448000													14	53					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:50169132C>T	ENST00000246785.3	+	1	310	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000													20	34					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134328036	134328036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:134328036C>T	ENST00000275230.5	-	3	1636	c.1481G>A	c.(1480-1482)gGg>gAg	p.G494E		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	494						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCCTCTGATCCCACCAGGAAA	0.488000													13	11					0	0	1	0	0
C14orf180	400258	broad.mit.edu	37	14	105054105	105054105	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:105054105C>T	ENST00000557649.1	+	3	467	c.131C>T	c.(130-132)cCc>cTc	p.P44L	C14orf180_ENST00000410013.1_Missense_Mutation_p.P44L|C14orf180_ENST00000331952.2_Missense_Mutation_p.P44L			Q8N912	CN180_HUMAN	chromosome 14 open reading frame 180	44						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		AGGAAGTGCCCCCCCTCCATC	0.701000													14	5					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121636504	121636504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:121636504G>A	ENST00000393386.2	+	9	1408	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E333K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	333	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGTTACATGGGAAAGACCTCG	0.403000													37	62					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224465	55224465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:55224465G>A	ENST00000371279.3	-	2	452	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	124					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCTCTGCCGGGCTGAGGCTG	0.577000													23	101					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398514	89398514	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:89398514G>A	ENST00000439576.2	+	12	3072	c.2698G>A	c.(2698-2700)Gac>Aac	p.D900N	ACAN_ENST00000561243.1_Missense_Mutation_p.D900N|ACAN_ENST00000559004.1_Missense_Mutation_p.D900N|ACAN_ENST00000352105.7_Missense_Mutation_p.D900N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	900					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGAGACCTGGACTCCAGTGG	0.572000													10	60					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519924	23519924	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:23519924C>T	ENST00000374619.1	-	1	1298	c.789G>A	c.(787-789)ggG>ggA	p.G263G	HTR1D_ENST00000314113.3_Silent_p.G263G	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	263					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGTGCGAGTGCCCCTCATGGA	0.582000													25	87					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100064	110100064	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:110100064G>A	ENST00000518632.1	+	2	674	c.323G>A	c.(322-324)gGa>gAa	p.G108E	TRHR_ENST00000311762.2_Missense_Mutation_p.G108E			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	108						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAGTATTTGGGAATTAATGCA	0.463000													14	54					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476278	22476278	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22476278C>T	ENST00000390447.3	+	0	325																											TTTCCTTATTCGTCGGAACTC	0.423000													6	5					0	0	1	0	0
COPS5	10987	broad.mit.edu	37	8	67968827	67968827	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67968827G>A	ENST00000517736.1	-	5	955	c.394C>T	c.(394-396)Cct>Tct	p.P132S	PPP1R42_ENST00000517834.1_5'UTR|COPS5_ENST00000357849.4_Missense_Mutation_p.P196S			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	196	MPN.				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTTCATCAGGAGGTTTGTAG	0.254000													13	28					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893723	16893723	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:16893723G>A	ENST00000430580.2	-	25	3677	c.2790C>T	c.(2788-2790)gcC>gcT	p.A930A	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	930	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATATGTAAAAGGCACTTCTGT	0.463000													32	1104					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595450	152595450	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152595450C>T	ENST00000335674.1	-	1	129	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	44					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657000													21	57					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152511	149152511	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149152511G>A	ENST00000247930.4	-	2	926	c.603C>T	c.(601-603)gcC>gcT	p.A201A		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCATGGCCTGGGCCTCCAGCT	0.602000													61	79					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52757894	52757894	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52757894G>A	ENST00000257901.3	-	4	819	c.744C>T	c.(742-744)gcC>gcT	p.A248A	KRT85_ENST00000544265.1_Silent_p.A36A	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	248	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCCACCAGGGCCTCCACAT	0.612000													64	75					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24810297	24810297	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:24810297C>T	ENST00000221169.5	-	0	2253							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGAATTATTCCTGAAATAAT	0.398000													13	28					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188272	7188272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:7188272G>A	ENST00000486284.1	+	2	927	c.653G>A	c.(652-654)tGg>tAg	p.W218*	GRM7_ENST00000402647.2_Nonsense_Mutation_p.W218*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.W218*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.W218*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.W218*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	218					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCCCTAGGCTGGAATTATGTG	0.522000													15	57					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35627660	35627660	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:35627660G>A	ENST00000353139.5	-	10	1582	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	ACACA_ENST00000360679.3_Silent_p.F272F|ACACA_ENST00000394406.2_Silent_p.F330F|ACACA_ENST00000335166.5_Silent_p.F252F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	330	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGAGATTAGGGAAGTCATCTG	0.378000													26	50					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038800	11038800	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:11038800G>A	ENST00000470054.1	-	0	1403									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGTTTTTTGGAGTGACTGAG	0.423000													26	142					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11009823	11009823	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11009823G>A	ENST00000377004.4	-	11	1147	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	C1orf127_ENST00000377008.4_Missense_Mutation_p.P216L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	234										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGTGGGGAGGGAGTGGTCCT	0.607000													6	6					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374114	33374114	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33374114C>T	ENST00000428849.2	+	8	2128	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	560	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTGTGGGGCCCCCCTCAGTCT	0.642000													53	271					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867109	5867109	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5867109C>T	ENST00000252675.5	-	5	1190	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	FUT5_ENST00000588525.1_Missense_Mutation_p.V210M			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	210					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CAGTTGGACACCGCCCAGGCC	0.677000													11	25					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59445710	59445710	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:59445710C>T	ENST00000589222.1	+	23	2516	c.2448C>T	c.(2446-2448)acC>acT	p.T816T	BCAS3_ENST00000588462.1_Silent_p.T831T|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000390652.5_Silent_p.T831T|BCAS3_ENST00000588874.1_Silent_p.T587T|BCAS3_ENST00000408905.3_Silent_p.T816T|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585744.1_Silent_p.T602T|BCAS3_ENST00000407086.3_Silent_p.T816T			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	831						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGAGCGTGACCCTGCTGGAGG	0.642000													21	152					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988616	137988616	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:137988616G>A	ENST00000409968.1	+	8	1904	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E576K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E545K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATTGTAGGAGAAGATGTATC	0.458000													10	20					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42065859	42065859	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:42065859G>A	ENST00000395925.3	-	8	1265	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	394					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGGATCCCTGGAATAGGCCT	0.592000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				3	15					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43473391	43473391	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:43473391T>G	ENST00000260403.2	+	13	1778	c.1499T>G	c.(1498-1500)tTt>tGt	p.F500C	TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	500						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CCATGGTTTTTTGGTGAAATC	0.313000													21	169					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183493851	183493851	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:183493851C>T	ENST00000305135.5	+	18	2712	c.2517C>T	c.(2515-2517)ggC>ggT	p.G839G		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	839	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTACTGCTGGCCCTGGAGGGA	0.537000													10	27					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90342782	90342782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90342782C>T	ENST00000300060.6	-	13	2141	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	610	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGAAGAGATCGTTCTGGGCT	0.592000													33	215					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612752	31612752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31612752G>A	ENST00000404765.2	-	10	1629	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	BAG6_ENST00000375964.6_Missense_Mutation_p.P453L|BAG6_ENST00000362049.6_Missense_Mutation_p.P447L|BAG6_ENST00000211379.5_Missense_Mutation_p.P447L|BAG6_ENST00000375976.4_Missense_Mutation_p.P447L|BAG6_ENST00000439687.2_Missense_Mutation_p.P447L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	453	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATGACCACGGGTTCCACACT	0.597000													50	201					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134102706	134102706	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:134102706C>T	ENST00000452510.2	+	3	464	c.306C>T	c.(304-306)tcC>tcT	p.S102S	DDX46_ENST00000354283.4_Silent_p.S102S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	102	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGGCGATCCCGATCCTCCA	0.507000													5	28					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172607438	172607438	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:172607438G>A	ENST00000351008.3	-	11	1815	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	544					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TAGTTTTTAAGAAACTGTCCT	0.358000													19	46					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332146	107332146	+	Missense_Mutation	SNP	G	G	A	rs150858980		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107332146G>A	ENST00000335040.1	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233E(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCACTGAAGGAAAACATAAG	0.418000													13	42					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102488	155102488	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:155102488C>T	ENST00000392825.3	+	7	1417	c.850C>T	c.(850-852)Cct>Tct	p.P284S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P284S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	284	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGAACATTACCTGTCAGGTA	0.353000													15	13					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598351	151598351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:151598351G>A	ENST00000362032.4	+	3	125	c.20G>A	c.(19-21)tGg>tAg	p.W7*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	7						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CTTTAGGCATGGAATGCAACT	0.393000													26	47					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81866016	81866016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:81866016C>T	ENST00000358105.3	+	5	578	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	C4orf22_ENST00000508675.1_Nonsense_Mutation_p.Q194*	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	177										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TCCCAACTATCAAGTGATTGC	0.313000													5	48					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73999323	73999323	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73999323C>T	ENST00000425876.2	+	6	724	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L212L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	212	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TTGACCAGCTCTTTCGTATCT	0.532000													169	214					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896066	153896066	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:153896066C>T	ENST00000511601.1	+	12	1811	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	FHDC1_ENST00000260008.3_Silent_p.L541L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	541					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCTCCCGCCTCTCCCTGGGTC	0.687000													11	10					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022128	14022128	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:14022128C>T	ENST00000382080.1	-	5	1223	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SGCZ_ENST00000421524.2_Missense_Mutation_p.D123N|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	157					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTAATCTCATCTTCATCTGCA	0.413000													17	34					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825539	825539	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:825539C>T	ENST00000293892.3	-	5	1221	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	115					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACTCTGGACTCGCCGTGGCAG	0.697000													18	10					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690648	91690648	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:91690648C>T	ENST00000359028.2	+	24	5937	c.5712C>T	c.(5710-5712)tcC>tcT	p.S1904S	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Silent_p.S1904S|AKAP9_ENST00000356239.3_Silent_p.S1892S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1904	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.L1905fs*3(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAACAGAGTCCCTTAAGTGCC	0.473000			T	BRAF	papillary thyroid								19	39					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541160	35541160	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:35541160G>A	ENST00000287272.2	+	5	686	c.666G>A	c.(664-666)cgG>cgA	p.R222R	UNC5D_ENST00000453357.2_Silent_p.R217R|UNC5D_ENST00000416672.1_Silent_p.R222R|UNC5D_ENST00000404895.2_Silent_p.R222R|UNC5D_ENST00000420357.1_Silent_p.R222R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	222	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCAGGCACGGCTCTCGGACT	0.512000													4	25					0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41650183	41650183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:41650183C>T	ENST00000379487.3	+	8	966	c.566C>T	c.(565-567)tCc>tTc	p.S189F	WBP4_ENST00000542082.1_Missense_Mutation_p.S168F	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	189	WW 2.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGAGCAGAATCCAGATGGGAG	0.318000													13	25					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288614	107288614	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107288614G>A	ENST00000277216.3	-	1	876	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGATTATGGGGTTTAACATG	0.408000													16	22					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587338	26587338	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:26587338C>T	ENST00000436318.2	-	2	282	c.149G>A	c.(148-150)gGa>gAa	p.G50E	ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G50E|MUC15_ENST00000527569.1_Missense_Mutation_p.G50E|MUC15_ENST00000529533.1_Missense_Mutation_p.G50E|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G23E			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	23						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTTTCTTTTCCATGGCTCCC	0.323000													8	37					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326390	15326390	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:15326390C>T	ENST00000344693.5	-	0	817					NR_027270.1																						TTCTCACCTTCTCCTTTTCCA	0.468000													11	48					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826345	117826345	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:117826345C>T	ENST00000350763.4	-	12	3901	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.E1164K|TNC_ENST00000341037.4_Missense_Mutation_p.E1164K|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1164	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTGGGAGTTTCCCCTGGAGAA	0.443000													60	55					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719615	81719615	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:81719615C>T	ENST00000550584.2	-	21	2878	c.2583G>A	c.(2581-2583)gaG>gaA	p.E861E	PPFIA2_ENST00000407050.4_Silent_p.E787E|PPFIA2_ENST00000443686.3_Silent_p.E762E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Silent_p.E843E|PPFIA2_ENST00000541570.2_Silent_p.E428E|PPFIA2_ENST00000549396.1_Silent_p.E861E|PPFIA2_ENST00000550359.2_Silent_p.E708E|PPFIA2_ENST00000552948.1_Silent_p.E861E|PPFIA2_ENST00000548586.1_Silent_p.E861E|PPFIA2_ENST00000549325.1_Silent_p.E843E|PPFIA2_ENST00000541017.1_Silent_p.E78E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	787										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCCCAGGGACTCCTGAGCTG	0.418000													18	19					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766857	172766857	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:172766857C>T	ENST00000351008.3	-	3	823	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	214					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCAAATGGTTCTCCCAGAACT	0.353000													6	24					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681138	137681138	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:137681138C>T	ENST00000239906.5	+	4	1189	c.761C>T	c.(760-762)tCc>tTc	p.S254F	FAM53C_ENST00000434981.2_Missense_Mutation_p.S254F|FAM53C_ENST00000513056.1_Missense_Mutation_p.P64S|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	254										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCCCGCATCCTCCCCAGAG	0.662000													19	95					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112585891	112585891	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:112585891C>T	ENST00000257604.5	+	8	1558	c.941C>T	c.(940-942)cCt>cTt	p.P314L	TRAFD1_ENST00000412615.2_Missense_Mutation_p.P314L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	314					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGCTGTAACCCTTCACGTGCC	0.403000													8	20					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482239	38482239	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:38482239G>A	ENST00000263409.4	-	20	2914	c.2752C>T	c.(2752-2754)Cct>Tct	p.P918S	LIFR_ENST00000453190.2_Missense_Mutation_p.P918S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	918					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTATTTTAGGAAATGCTGAT	0.398000			T	PLAG1	salivary adenoma								17	74					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3150963	3150963	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:3150963C>T	ENST00000381075.2	+	11	1141	c.917C>T	c.(916-918)cCt>cTt	p.P306L	PFKP_ENST00000381125.4_Missense_Mutation_p.P314L	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	314					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGAGGGACCCCTTCGGCATTC	0.582000													21	45					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510360	169510360	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:169510360G>A	ENST00000367796.3	-	13	4184	c.3983C>T	c.(3982-3984)cCa>cTa	p.P1328L	F5_ENST00000367797.3_Missense_Mutation_p.P1323L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1323	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGAGGTCTGGAGAAATGGG	0.522000													53	242					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133434	22133434	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22133434C>T	ENST00000408935.1	+	1	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTCATCATCATTGCCACAG	0.443000													70	42					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057385	1057385	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:1057385C>T	ENST00000263094.6	+	35	5068	c.4837C>T	c.(4837-4839)Cct>Tct	p.P1613S	ABCA7_ENST00000435683.2_Missense_Mutation_p.P1475S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1613S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1613					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATATGTGGCCCCTGCCAACCT	0.542000													26	68					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444685	78444685	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:78444685C>T	ENST00000397909.2	+	11	2447	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	NAV3_ENST00000266692.7_Silent_p.S758S|NAV3_ENST00000228327.6_Silent_p.S758S|NAV3_ENST00000536525.2_Silent_p.S758S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	758						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGCTCCCTCCCTGGGTGCTG	0.582000										HNSCC(70;0.22)			4	29					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81229049	81229049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:81229049G>A	ENST00000394685.3	+	24	3463	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1015Q|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1015Q			Q8WUJ3	K1199_HUMAN	KIAA1199	1015										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTAACCTGCGAATGAAGATC	0.478000													29	104					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221247	161221247	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:161221247G>A	ENST00000327928.4	+	4	951	c.951G>A	c.(949-951)ggG>ggA	p.G317G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	317	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCAACAAAGGGGTCCGAGGCC	0.577000													13	19					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45980212	45980212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:45980212G>A	ENST00000262746.1	-	5	820	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	PRDX1_ENST00000372079.1_Nonsense_Mutation_p.Q59*|PRDX1_ENST00000319248.8_Nonsense_Mutation_p.Q161*	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	161	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TGGAAGGCCTGAACTAGTCTC	0.493000													153	120					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442488	114442488	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114442488G>A	ENST00000369566.3	-	3	1018	c.873C>T	c.(871-873)gaC>gaT	p.D291D	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Intron|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369569.1_Intron			Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	0					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		TTGCTGGCTGGTCTAGGTTCT	0.478000													57	118					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585230	70585230	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70585230C>T	ENST00000260126.3	-	10	3127	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	SLCO5A1_ENST00000530307.1_Silent_p.E752E|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	807						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCAGGCCAGTCTCTTCGTGGA	0.592000													20	51					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025675	16025675	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:16025675G>A	ENST00000326742.7	-	9	1147	c.1146C>T	c.(1144-1146)acC>acT	p.T382T	CYP4F11_ENST00000248041.7_Silent_p.T382T|CYP4F11_ENST00000402119.3_Silent_p.T382T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	382					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TAATGCACATGGTCAGGAAGG	0.567000													24	59					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919854	142919854	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142919854G>A	ENST00000408947.3	+	1	725	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	228					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTACACATGGGAAGCAATGCC	0.493000													26	96					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27701270	27701270	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:27701270G>A	ENST00000270879.4	-	1	45	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	FCN3_ENST00000354982.2_Silent_p.L14L	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	14					complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCCAAGCAGGAGAAGCCAC	0.642000													3	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475947	82475947	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:82475947G>A	ENST00000423517.2	-	12	14104	c.13767C>T	c.(13765-13767)gaC>gaT	p.D4589D	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.D4589D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4477	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATATTGAGGTCCCTAAAAA	0.323000													8	11					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26941582	26941582	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:26941582G>A	ENST00000539517.2	-	4	780	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NOVA1_ENST00000547619.1_Missense_Mutation_p.P155S|NOVA1_ENST00000344429.5_Missense_Mutation_p.P155S|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Missense_Mutation_p.P33S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	158					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTGGTAGTTGGGGAAGATGGC	0.393000													10	2					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823997	48823997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48823997C>T	ENST00000505658.1	+	9	1261	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	LUC7L3_ENST00000393227.2_Nonsense_Mutation_p.R358*|LUC7L3_ENST00000240304.1_Nonsense_Mutation_p.R358*|LUC7L3_ENST00000544170.1_Nonsense_Mutation_p.R282*			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	358	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAGCCGGGATCGAAAGTCATA	0.393000													13	89					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714589	13714589	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13714589C>T	ENST00000265104.4	-	75	13154	c.13050G>A	c.(13048-13050)gaG>gaA	p.E4350E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4350					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCCCGGGTCTCATCCCCTC	0.572000									Kartagener syndrome				24	72					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523943	114523943	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114523943C>T	ENST00000369551.1	+	4	1001	c.713C>T	c.(712-714)cCa>cTa	p.P238L	OLFML3_ENST00000393300.2_Missense_Mutation_p.P238L|OLFML3_ENST00000320334.4_Missense_Mutation_p.P258L|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	258	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		TCAGTATTCCCAGCAGAGGGG	0.567000													22	25					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53303922G>A	ENST00000438150.2	-	2	1910	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ZNF28_ENST00000457749.2_Silent_p.F392F|ZNF28_ENST00000414252.2_Silent_p.F339F|ZNF28_ENST00000360272.4_Silent_p.F339F			P17035	ZNF28_HUMAN	zinc finger protein 28	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000													21	56					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47632182	47632182	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:47632182G>A	ENST00000254480.5	-	27	3308	c.3189C>T	c.(3187-3189)ccC>ccT	p.P1063P	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1063	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGGGTACCCGGGGTCCTAAGA	0.577000													10	31					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503160	39503160	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39503160T>G	ENST00000007735.3	-	5	856	c.812A>C	c.(811-813)gAg>gCg	p.E271A		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	271	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CTCGATGATCTCCGCCTGGTA	0.587000													17	111					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906159	906159	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:906159G>A	ENST00000379409.2	+	5	535	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	PLEKHN1_ENST00000379407.2_Intron|PLEKHN1_ENST00000379410.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	169	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTTCCCGGGCCCCCAGAGG	0.667000													35	29					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32230004	32230004	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:32230004G>A	ENST00000382142.3	-	16	2294	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	MTMR12_ENST00000280285.5_Silent_p.F654F|MTMR12_ENST00000264934.5_Silent_p.F598F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	708						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGAGCAGAGCGAAAGGAAACA	0.572000													51	33					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250509	28250509	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:28250509C>T	ENST00000305242.5	-	10	1466	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.V150V|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Silent_p.V315V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	458							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAATATTTCACCAGCTTCT	0.378000													5	33					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190185	101190185	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:101190185C>A	ENST00000294728.2	+	4	768	c.667C>A	c.(667-669)Ccc>Acc	p.P223T	VCAM1_ENST00000370115.1_Missense_Mutation_p.P223T|VCAM1_ENST00000347652.2_Missense_Mutation_p.P223T|VCAM1_ENST00000370119.4_Missense_Mutation_p.P161T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	223	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCAGTATCACCCAAGAATAC	0.423000													17	30					1.37657e-19	1.405e-19	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50190616	50190616	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:50190616G>A	ENST00000335999.6	-	8	1228	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	339	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCCCGGCCAGGAAGGCCTGT	0.657000													8	26					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70539514	70539514	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70539514G>A	ENST00000260128.4	+	16	2637	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	SULF1_ENST00000402687.4_Silent_p.K640K|SULF1_ENST00000458141.2_Silent_p.K640K|SULF1_ENST00000419716.3_Silent_p.K640K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	640					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAGCGTGGAAGGACCATAAGG	0.453000													7	19					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33538124	33538124	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:33538124C>T	ENST00000228567.3	-	4	1476	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	SYT10_ENST00000535526.1_Missense_Mutation_p.D213N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	394	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCAGTAATATCCATCGCCTTC	0.413000													26	43					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31289498	31289498	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:31289498G>A	ENST00000332585.6	+	10	2143	c.2039G>A	c.(2038-2040)aGg>aAg	p.R680K	OSBP2_ENST00000437268.2_Missense_Mutation_p.R422K|OSBP2_ENST00000446658.2_Missense_Mutation_p.R679K|OSBP2_ENST00000407373.1_Missense_Mutation_p.R507K|OSBP2_ENST00000401475.1_Missense_Mutation_p.R313K|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.R514K|OSBP2_ENST00000382310.3_Missense_Mutation_p.R631K|OSBP2_ENST00000535268.1_Missense_Mutation_p.R224K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	680					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TACGTGTGGAGGAAGAGCACC	0.632000													19	46					0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054943	203054943	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:203054943G>A	ENST00000241651.4	-	1	221	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	49					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TGTCCTCAAGGGGCCCTGGGG	0.657000													45	76					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	62					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:187698678G>A	ENST00000295131.2	-	6	862	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding	p.R275C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000													22	10					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67692517	67692517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:67692517G>A	ENST00000335894.4	+	14	2037	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	IQCH_ENST00000358767.3_Missense_Mutation_p.M393I|IQCH_ENST00000546225.1_Missense_Mutation_p.M314I|IQCH_ENST00000360277.4_Missense_Mutation_p.M318I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	657										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTTTAAAATGGACTCTGAGT	0.443000													16	35					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118525493	118525493	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:118525493C>A	ENST00000311085.8	+	29	7306	c.7226C>A	c.(7225-7227)tCc>tAc	p.S2409Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2409Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2409										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTGACCCCTTCCTCGGCACCA	0.428000													30	84					1.45844e-13	1.48315e-13	1	1	0
TNKS	8658	broad.mit.edu	37	8	9623898	9623898	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:9623898C>T	ENST00000310430.6	+	25	3729	c.3703C>T	c.(3703-3705)Cct>Tct	p.P1235S	TNKS_ENST00000518281.1_Missense_Mutation_p.P998S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1235	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AACAGGCTGCCCTACACACAA	0.433000													10	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064799	9064799	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9064799G>A	ENST00000397910.4	-	3	22850	c.22647C>T	c.(22645-22647)acC>acT	p.T7549T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7551	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTTCAGAGGTGCTGGTCT	0.463000													13	33					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9354971	9354971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:9354971G>A	ENST00000381997.2	-	1	30	c.31C>T	c.(31-33)Cca>Tca	p.P11S	PZP_ENST00000261336.2_Intron					pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATCTTACTGGAAAAGTAGTT	0.448000													9	33					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740881	30740881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30740881C>T	ENST00000262518.4	+	27	6500	c.6115C>T	c.(6115-6117)Cag>Tag	p.Q2039*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q1977*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q1881*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2039					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AAGACTCATCCAGTATGATTG	0.493000													20	68					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252545	117252545	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:117252545G>A	ENST00000332958.2	+	19	2679	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	888					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTATGTATGGAACTTCCAAC	0.408000													18	34					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36671744	36671744	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:36671744C>T	ENST00000399881.3	+	8	789	c.752C>T	c.(751-753)cCc>cTc	p.P251L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	251						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGTGATCCCTGGCTCAAA	0.383000													3	15					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167246952	167246952	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:167246952G>A	ENST00000308378.3	-	10	1543	c.1238C>T	c.(1237-1239)gCt>gTt	p.A413V	WDR49_ENST00000476376.1_Missense_Mutation_p.A238V|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.A477V	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	413										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAAAAATTCAGCCAGAAGTTG	0.383000													9	41					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342195	29342195	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29342195G>A	ENST00000396806.3	-	1	873	c.870C>T	c.(868-870)acC>acT	p.T290T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGTTCCTAAGGGTGTAGATTA	0.453000													42	81					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457027	25457027	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:25457027G>A	ENST00000278886.6	-	17	2973	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	967					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.S967L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCCCTGCACGAAGCGGCCGG	0.687000													9	10					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399494	55399494	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55399494A>T	ENST00000355524.3	+	4	492	c.482A>T	c.(481-483)gAg>gTg	p.E161V	FCAR_ENST00000391723.3_Missense_Mutation_p.E149V|FCAR_ENST00000391724.3_Missense_Mutation_p.E149V|FCAR_ENST00000359272.4_Missense_Mutation_p.E149V|FCAR_ENST00000353758.4_Missense_Mutation_p.E52V|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Missense_Mutation_p.E161V|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391725.3_Missense_Mutation_p.E161V	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	161	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTGGCCAAGGAGGGAGAACTT	0.527000													8	14					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56047462	56047462	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:56047462G>A	ENST00000413299.1	-	2	237	c.200C>T	c.(199-201)cCc>cTc	p.P67L	SBK2_ENST00000344158.3_Missense_Mutation_p.P67L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	67	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTGGCCCAGGGGACGCACTTC	0.672000													8	17					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101449268	101449268	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:101449268C>T	ENST00000554693.2	+	0	717				SNORD114-22_ENST00000365423.1_RNA																							CATTCTGGATCGATGATGACT	0.368000													31	24					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109091	58109091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:58109091C>T	ENST00000357272.4	+	21	3563	c.3398C>T	c.(3397-3399)cCc>cTc	p.P1133L	FLNB_ENST00000348383.5_Missense_Mutation_p.P1133L|FLNB_ENST00000419752.2_Missense_Mutation_p.P964L|FLNB_ENST00000295956.4_Missense_Mutation_p.P1133L|FLNB_ENST00000493452.1_Missense_Mutation_p.P964L|FLNB_ENST00000490882.1_Missense_Mutation_p.P1133L|FLNB_ENST00000358537.3_Missense_Mutation_p.P1133L|FLNB_ENST00000429972.2_Missense_Mutation_p.P1133L			O75369	FLNB_HUMAN	filamin B, beta	1133	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCTTTGACCCCTCTAAAGTC	0.582000													38	102					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162900236	162900236	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:162900236C>T	ENST00000416990.2	+	8	854	c.357C>T	c.(355-357)ctC>ctT	p.L119L	HMMR_ENST00000432118.2_Silent_p.L147L|HMMR_ENST00000393915.4_Silent_p.L234L|HMMR_ENST00000353866.3_Silent_p.L218L|HMMR_ENST00000358715.3_Silent_p.L233L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	233						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CAGAAAAACTCTTGGAATACA	0.249000													8	5					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35254664	35254664	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:35254664C>T	ENST00000381318.3	+	35	4747	c.4459C>T	c.(4459-4461)Ctc>Ttc	p.L1487F	ITSN1_ENST00000399367.3_Missense_Mutation_p.L1482F|ITSN1_ENST00000381285.4_Missense_Mutation_p.L1487F|ITSN1_ENST00000437442.2_Missense_Mutation_p.L1426F|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1487	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAACGACTTCCTCCTGCTGAC	0.483000													11	40					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245613	6245613	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:6245613G>A	ENST00000265978.4	-	2	492	c.134C>T	c.(133-135)tCc>tTc	p.S45F	FAM160A2_ENST00000524416.1_Missense_Mutation_p.S45F|FAM160A2_ENST00000449352.2_Missense_Mutation_p.S45F	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	45					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTACCTGGGACCAGTGATT	0.527000													16	58					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678917	138678917	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:138678917C>T	ENST00000520602.1	-	22	2533	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	MCF2_ENST00000370578.4_Missense_Mutation_p.E835K|MCF2_ENST00000370573.4_Missense_Mutation_p.E690K|MCF2_ENST00000338585.6_Missense_Mutation_p.E706K|MCF2_ENST00000519895.1_Missense_Mutation_p.E766K|MCF2_ENST00000414978.1_Missense_Mutation_p.E750K|MCF2_ENST00000536274.1_Missense_Mutation_p.E651K|MCF2_ENST00000370576.4_Missense_Mutation_p.E690K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	690	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCCCAGTTCATTTAAGTTT	0.403000													23	36					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182394344	182394344	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:182394344C>T	ENST00000397033.2	+	23	2937	c.2507C>T	c.(2506-2508)aCt>aTt	p.T836I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	836					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGCCCCCAAACTGATAAGCTG	0.328000													14	25					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49005706	49005706	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:49005706G>A	ENST00000600059.1	-	7	1005	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	LMTK3_ENST00000270238.3_Missense_Mutation_p.H289Y					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ACGTAGTTGTGGGAATGCAGG	0.716000													12	32					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64390376	64390376	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64390376C>T	ENST00000265459.6	-	21	4483	c.4022G>A	c.(4021-4023)gGg>gAg	p.G1341E	NRXN2_ENST00000377559.3_Missense_Mutation_p.G1271E|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1334E|NRXN2_ENST00000301894.2_Missense_Mutation_p.G295E|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1341E	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1341	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding	p.G1341E(1)|p.G295E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGCCCCTCCCCCACCAGGCG	0.672000													3	10					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167180	81167180	+	RNA	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:81167180T>C	ENST00000525539.1	-	0	5844				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGATTTCTCTGATGAGGGCA	0.517000													3	19					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272554	158272554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:158272554G>A	ENST00000264192.3	-	8	836	c.715C>T	c.(715-717)Cga>Tga	p.R239*	CYTIP_ENST00000540637.1_Nonsense_Mutation_p.R133*	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	239					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGGATAATCGATTCCGGTCC	0.542000													22	14					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563607	75563607	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:75563607G>A	ENST00000336257.3	-	3	2070	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S	CHST5_ENST00000541075.1_Missense_Mutation_p.P232S|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	226					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACGGCCCGCGGGTCGCGCACC	0.706000													26	58					0	0	1	0	0
IFNL2	282616	broad.mit.edu	37	19	39760141	39760141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:39760141C>T	ENST00000331982.5	+	4	339	c.284C>T	c.(283-285)cCc>cTc	p.P95L		NM_172138.1	NP_742150.1			interferon, lambda 2																		AGGGAGCGCCCCATGGCTTTG	0.622000													7	8					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:15605946C>T	ENST00000382020.4	+	9	1208	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_ENST00000503731.1_Missense_Mutation_p.R334C|TUSC3_ENST00000506802.1_Intron	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000													24	63					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133352336	133352336	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133352336G>A	ENST00000372394.1	+	10	1157	c.676G>A	c.(676-678)Gag>Aag	p.E226K	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Missense_Mutation_p.E226K|ASS1_ENST00000372393.3_Missense_Mutation_p.E226K			P00966	ASSY_HUMAN	argininosuccinate synthase 1	226					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TCTCGAGATCGAGTTCAAAAA	0.562000													29	57					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44586749	44586749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:44586749G>A	ENST00000409936.1	-	2	543	c.106C>T	c.(106-108)Cat>Tat	p.H36Y	PREPL_ENST00000378520.3_Missense_Mutation_p.H36Y|PREPL_ENST00000409272.1_Missense_Mutation_p.H36Y|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.H36Y|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.H36Y|PREPL_ENST00000378511.3_Missense_Mutation_p.H36Y	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	36					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGTAACAATGATCAGCGAAG	0.353000													30	61					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089247	43089247	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43089247G>A	ENST00000401850.1	-	2	1200	c.711C>T	c.(709-711)ttC>ttT	p.F237F	A4GALT_ENST00000381278.3_Silent_p.F237F|A4GALT_ENST00000249005.2_Silent_p.F237F			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	237					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTGGTCCACGAAGTCCCGCA	0.657000													6	18					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202631	53202631	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53202631G>A	ENST00000293774.4	-	5	1330	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	KRT4_ENST00000458244.2_Silent_p.L260L|KRT4_ENST00000551956.1_Silent_p.L280L			B4DRS2	B4DRS2_HUMAN	keratin 4	280						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ATCTGGGACAGCTCCTGCAGG	0.562000													29	17					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107832251	107832251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107832251C>T	ENST00000379028.3	-	18	2295	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	NRCAM_ENST00000379024.4_Missense_Mutation_p.D590N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D609N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D603N|NRCAM_ENST00000425651.2_Missense_Mutation_p.D609N|NRCAM_ENST00000413765.2_Missense_Mutation_p.D590N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	609	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCGCTGTCATCGTCACTGACA	0.502000													24	44					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963314	73963314	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:73963314C>T	ENST00000373468.1	-	3	1729	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D360N			Q5QGS0	K2022_HUMAN	KIAA2022	360					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGAAAAATCACTGCTCTGC	0.473000													26	11					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49680548	49680548	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49680548A>G	ENST00000296452.4	+	3	1595	c.1481A>G	c.(1480-1482)aAc>aGc	p.N494S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	494					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGGTGTGCAACCTGTGTGGC	0.592000													5	17					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55598348	55598348	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:55598348G>A	ENST00000294383.6	-	31	3406	c.3407C>T	c.(3406-3408)tCt>tTt	p.S1136F	USP24_ENST00000407756.1_Missense_Mutation_p.S976F	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1136	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGAGGACTGAGAACTTGATTC	0.383000													7	23					0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48963761	48963761	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:48963761G>A	ENST00000549817.1	-	1	88	c.43C>T	c.(43-45)Cct>Tct	p.P15S	LALBA_ENST00000301046.2_Missense_Mutation_p.P15S			P00709	LALBA_HUMAN	lactalbumin, alpha-	15					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						AGGATGGCAGGGAACAGGATG	0.468000													22	33					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119937958	119937958	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:119937958C>T	ENST00000327554.2	+	6	1098	c.633C>T	c.(631-633)ttC>ttT	p.F211F	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	211										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGAGCATTTCATCACAGCGC	0.468000													49	11					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9791260	9791260	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9791260G>A	ENST00000262441.5	+	12	1809	c.1296G>A	c.(1294-1296)gtG>gtA	p.V432V	GLP2R_ENST00000574745.1_Silent_p.V252V	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	432					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGTTCCTGGTGGCCTTGCAGT	0.512000													37	91					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66062172	66062172	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:66062172G>A	ENST00000349533.6	+	7	930	c.745G>A	c.(745-747)Gat>Aat	p.D249N	LEPR_ENST00000344610.8_Missense_Mutation_p.D249N|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.D249N|LEPR_ENST00000371059.3_Missense_Mutation_p.D249N|LEPR_ENST00000371060.3_Missense_Mutation_p.D249N|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	249	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGAAATCACAGATGATGGTAA	0.338000													9	37					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334740	142334740	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142334740G>A	ENST00000390394.3	+	0	240																											GTCAGTTCCCGAAACAGAGTC	0.507000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	54					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435946	56435946	+	Silent	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:56435946C>G	ENST00000327381.5	+	3	1213	c.1113C>G	c.(1111-1113)gcC>gcG	p.A371A		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	371						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTACATGGCCGTCATCATCC	0.587000													30	42					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216405327	216405327	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:216405327G>A	ENST00000366943.2	-	14	3347	c.2961C>T	c.(2959-2961)gaC>gaT	p.D987D	USH2A_ENST00000366942.3_Silent_p.D987D|USH2A_ENST00000307340.3_Silent_p.D987D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	987	Laminin EGF-like 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAAGTAATGGTCTTTGCATT	0.388000										HNSCC(13;0.011)			18	107					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28149659	28149659	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:28149659C>T	ENST00000305242.5	-	19	3008	c.2916G>A	c.(2914-2916)ctG>ctA	p.L972L	ARMC4_ENST00000545014.1_Silent_p.L497L|ARMC4_ENST00000537576.1_Silent_p.L664L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	972							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATTTGATTTCAGATAACGCA	0.507000													14	34					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45776851	45776851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:45776851C>T	ENST00000389061.5	+	14	1429	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	SACM1L_ENST00000541314.1_Nonsense_Mutation_p.Q348*|SACM1L_ENST00000418611.1_Nonsense_Mutation_p.Q306*	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	409	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TCGTTCACTTCAGGCCCAACT	0.388000													14	57					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101053462	101053462	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:101053462G>A	ENST00000369162.2	-	33	5503	c.5159C>T	c.(5158-5160)cCt>cTt	p.P1720L		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1720	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACTGGGAAAGGTTCATAAAG	0.308000													3	4					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2949728	2949728	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:2949728G>A	ENST00000396946.4	-	24	3619	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1072	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAAGAGCACGATGGGGTAGA	0.587000			Mis		DLBCL								52	53					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12875119	12875119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:12875119G>A	ENST00000381774.4	-	2	452	c.212C>T	c.(211-213)gCc>gTc	p.A71V	CPPED1_ENST00000433677.2_Missense_Mutation_p.A71V|CPPED1_ENST00000261660.4_Missense_Mutation_p.A71V	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	71							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GGCCTGGACGGCTTGCTCAGT	0.572000													9	19					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206708	58206708	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:58206708C>T	ENST00000377918.3	+	1	54	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	10					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTGCTGCTTTCTTCTATGGGC	0.622000													11	14					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215966	16215966	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:16215966C>T	ENST00000399408.2	+	25	3730	c.3555C>T	c.(3553-3555)atC>atT	p.I1185I	ABCC1_ENST00000349029.5_Silent_p.I1060I|ABCC1_ENST00000345148.5_Silent_p.I1175I|ABCC1_ENST00000351154.5_Silent_p.I1116I|ABCC1_ENST00000399410.3_Silent_p.I1175I|ABCC1_ENST00000346370.5_Silent_p.I1119I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1175	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCGCTTCATCCACCAGAGTG	0.617000													7	34					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41019020	41019020	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41019020C>T	ENST00000399564.4	-	25	2992	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E403K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTCTGGCCTTCACTTTTCAGA	0.493000													16	11					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29407902	29407902	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29407902C>T	ENST00000444197.2	+	1	820	c.110C>T	c.(109-111)aCc>aTc	p.T37I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TACCTGCTGACCGTGGCAGGC	0.552000													47	65					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597897	70597897	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:70597897G>A	ENST00000333538.5	+	1	743	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	37						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCGCAGCGGAGACGCCTTCCA	0.657000													9	49					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372905	95372905	+	Silent	SNP	G	G	A	rs143390578		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:95372905G>A	ENST00000371447.3	+	1	561	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	141	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGGACATTGGGATAGTGGGTT	0.527000													13	39					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568012	108568012	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:108568012G>A	ENST00000295756.6	+	5	444		c.e5-1		TRAT1_ENST00000426646.1_Splice_Site	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1						cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAATTCCCAAGAACCAATGGA	0.333000													7	35					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755813	141755813	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141755813C>T	ENST00000475668.2	+	29	3551	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1166F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1166	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1166F(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGAATTCCTATGGTGTC	0.498000													4	12					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573735	52573735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:52573735C>T	ENST00000395489.2	-	12	1604	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	A1CF_ENST00000373993.1_Missense_Mutation_p.G410E|A1CF_ENST00000373995.3_Missense_Mutation_p.G410E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.G402E|A1CF_ENST00000395495.1_Missense_Mutation_p.G355E|A1CF_ENST00000374001.1_Missense_Mutation_p.G402E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.G410E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	410	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACCTGGTATCCTCGACCCAG	0.493000													21	57					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517248	26517248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:26517248C>T	ENST00000456354.2	+	1	197	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	44					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCCCTCTCCCCTGCAGAG	0.617000													10	21					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115398181	115398181	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:115398181C>T	ENST00000369522.3	+	2	336	c.96C>T	c.(94-96)tcC>tcT	p.S32S	SYCP1_ENST00000369518.1_Silent_p.S32S	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	32	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCGATTCCACTTTCTTCA	0.423000													11	36					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430113	107430113	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107430113C>T	ENST00000340010.5	-	6	775	c.591G>A	c.(589-591)cgG>cgA	p.R197R	SLC26A3_ENST00000422236.2_Silent_p.R162R	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	197					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAAATCCAATCCGCAGAATCC	0.418000													5	14					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054136	46054136	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:46054136C>G	ENST00000536708.2	+	9	1041	c.932C>G	c.(931-933)tCt>tGt	p.S311C	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.S286C	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	286					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCTGGCATCTCTGCCGAGGCT	0.522000													17	65					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212631	62212631	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:62212631C>T	ENST00000519846.1	+	3	717	c.245C>T	c.(244-246)gCc>gTc	p.A82V	CLVS1_ENST00000325897.4_Missense_Mutation_p.A82V|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	82					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTCTCCGAGCCAGGAAGTTT	0.458000													15	25					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160490958	160490958	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:160490958C>T	ENST00000356956.1	+	31	4459	c.4311C>T	c.(4309-4311)ctC>ctT	p.L1437L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1437					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCGTGAACCTCGGCAGGGTAA	0.547000													3	19					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268607	22268607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:22268607C>T	ENST00000263026.5	+	8	1276	c.802C>T	c.(802-804)Cat>Tat	p.H268Y		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	268	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCGTTCCGGCCATCAGCTGAT	0.567000													42	45					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750649	234750649	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234750649G>A	ENST00000411486.2	-	8	842	c.777C>T	c.(775-777)acC>acT	p.T259T	HJURP_ENST00000432087.1_Silent_p.T205T|HJURP_ENST00000441687.1_Silent_p.T174T|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	259					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGTCACTGATGGTCACATTGC	0.488000													25	48					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12011195	12011195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:12011195C>T	ENST00000415385.3	+	6	688	c.635C>T	c.(634-636)cCa>cTa	p.P212L	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P201L			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	201	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATGTTATTCCAGAAGAAATT	0.308000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								18	64					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978520	54978520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:54978520C>T	ENST00000375006.3	-	8	734	c.664G>A	c.(664-666)Gac>Aac	p.D222N	PFKFB1_ENST00000545676.1_Missense_Mutation_p.D157N|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGCCCACGTCGAAGATCTTG	0.567000													7	5					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869135	36869135	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:36869135G>A	ENST00000279024.4	-	3	1669	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	466										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGGAGTGGGGGGCTCAGGGG	0.562000													38	49					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673455	72673455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:72673455G>A	ENST00000373514.2	+	2	605	c.605G>A	c.(604-606)aGa>aAa	p.R202K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACCATCCAGAGAAAATCAGAG	0.398000													10	5					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402633	248402633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248402633C>T	ENST00000306687.1	+	1	403	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTACACCATCCTCATGAATCC	0.463000													21	17					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960037	215960037	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:215960037C>T	ENST00000366943.2	-	52	10748	c.10362G>A	c.(10360-10362)ggG>ggA	p.G3454G	USH2A_ENST00000307340.3_Silent_p.G3454G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3454	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTTACACTCCCTGTATGAA	0.438000										HNSCC(13;0.011)			22	25					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79173561	79173561	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:79173561G>A	ENST00000269392.4	-	9	1228	c.981C>T	c.(979-981)gcC>gcT	p.A327A	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Silent_p.A327A|AZI1_ENST00000450824.2_Silent_p.A327A|AZI1_ENST00000374782.3_Silent_p.A327A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	327					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCTCCTCCCGGGCCTTCCTCC	0.687000													61	63					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441454	111441454	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:111441454G>A	ENST00000265162.5	+	10	2001	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	553					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.K553N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACGGTGTCAAGAACATCACAC	0.438000													13	32					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100443865	100443865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:100443865G>A	ENST00000395996.1	+	22	3294	c.3183G>A	c.(3181-3183)tgG>tgA	p.W1061*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.W1061*|VPS13B_ENST00000358544.2_Nonsense_Mutation_p.W1061*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1061					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAATTGTTTGGAATGCAGTGA	0.323000													8	32					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841494	130841494	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:130841494C>T	ENST00000245255.3	+	13	1708	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	479					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCAGATTGGTCCAAAGAAACA	0.373000													9	42					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764266	92764266	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92764266G>A	ENST00000318238.4	-	5	2235	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S340L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S340L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	340										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TACAAACAGTGAAAGATTTTG	0.333000													50	62					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62207603	62207603	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:62207603G>A	ENST00000394997.1	+	12	2058	c.1793G>A	c.(1792-1794)aGc>aAc	p.S598N	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Missense_Mutation_p.S597N|HIF1A_ENST00000539097.1_Missense_Mutation_p.S621N|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.S597N|HIF1A_ENST00000557538.1_Missense_Mutation_p.S538N			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	597	ID.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AGTCCTCAAAGCACAGTTACA	0.448000													22	43					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940670	113940670	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:113940670G>A	ENST00000245796.6	+	2	832	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PSD4_ENST00000441564.2_Missense_Mutation_p.E213K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	213					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTCAGGGGAAGACAGCAG	0.632000													26	13					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399825	76399825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76399825C>T	ENST00000262764.6	+	7	1083	c.1057C>T	c.(1057-1059)Ccg>Tcg	p.P353S	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.P218S	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	353					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGGATTTATCCGCTGATTCA	0.552000													30	64					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028952	62028952	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62028952G>T	ENST00000578147.1	-	14	2761	c.2685C>A	c.(2683-2685)aaC>aaA	p.N895K	SCN4A_ENST00000435607.1_Missense_Mutation_p.N895K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	895					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCCCATGTGGTTCAGGATGT	0.637000													10	34					0.00621372	0.00622607	1	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935230	151935230	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:151935230C>T	ENST00000393902.3	-	3	1504	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	MAGEA3_ENST00000370278.3_Missense_Mutation_p.E313K			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	313										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTCTTCCCCCTCTCTC	0.572000													62	77					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182649	140182649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140182649C>T	ENST00000522353.2	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R623C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTTCGCGTGGGGCT	0.662000													33	65					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910781	139910781	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139910781G>A	ENST00000265662.5	-	21	3213	c.3066C>T	c.(3064-3066)tcC>tcT	p.S1022S	ABCA2_ENST00000371605.3_Silent_p.S1021S|ABCA2_ENST00000341511.6_Silent_p.S1022S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1021	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCCCAAGAAGGAGACCACCT	0.597000													8	33					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48453106	48453106	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48453106G>T	ENST00000393271.2	+	2	619	c.537G>T	c.(535-537)caG>caT	p.Q179H	EME1_ENST00000338165.4_Missense_Mutation_p.Q179H|EME1_ENST00000511648.2_Missense_Mutation_p.Q179H	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	179					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GCCCTGGCCAGAGCAGCAGCT	0.532000								Direct reversal of damage;Homologous recombination					20	67					1.01871e-10	1.03181e-10	1	1	0
RASA2	5922	broad.mit.edu	37	3	141289854	141289854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:141289854C>T	ENST00000286364.3	+	10	999	c.964C>T	c.(964-966)Cct>Tct	p.P322S	RASA2_ENST00000452898.1_Missense_Mutation_p.P322S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	322					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTACGTGCTTCCTTCAGAGTA	0.378000													5	16					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181943	57181943	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:57181943C>T	ENST00000504228.1	+	6	2380	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P752S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P759S			Q6ZU35	K1211_HUMAN	KIAA1211	759										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAGACAGCCCCCCAGCCTCC	0.597000													29	24					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:72129059G>A	ENST00000340726.3	-	14	1867	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	EYA1_ENST00000388743.2_Missense_Mutation_p.P409S|EYA1_ENST00000419131.1_Missense_Mutation_p.P375S|EYA1_ENST00000388742.4_Missense_Mutation_p.P410S|EYA1_ENST00000388741.2_Missense_Mutation_p.P376S|EYA1_ENST00000303824.7_Missense_Mutation_p.P404S|EYA1_ENST00000388740.3_Missense_Mutation_p.P377S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433000													13	17					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42065860	42065860	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:42065860G>T	ENST00000395925.3	-	8	1264	c.1180C>A	c.(1180-1182)Cca>Aca	p.P394T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	394					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGATCCCTGGAATAGGCCTC	0.592000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	16					2.56e-06	2.57945e-06	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130778182	130778182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:130778182G>A	ENST00000509018.1	-	23	3675	c.3470C>T	c.(3469-3471)tCt>tTt	p.S1157F	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1170F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1165F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1165F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1207F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S880F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S1157F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1157					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGCACTGGAGACATTTCAGA	0.438000													15	58					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43891598	43891598	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:43891598C>T	ENST00000562955.1	+	20	2907	c.2907C>T	c.(2905-2907)ccC>ccT	p.P969P	SZT2_ENST00000372442.1_Silent_p.P127P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	969						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTCCTCTGCCCCCAGAGCCGA	0.602000													18	82					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935405	6935405	+	Missense_Mutation	SNP	C	C	T	rs146164363		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6935405C>T	ENST00000311268.3	+	4	1889	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	GPR162_ENST00000428545.2_Missense_Mutation_p.R84C|GPR162_ENST00000382315.3_Missense_Mutation_p.R64C	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	368						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TTGCAAAGTTCGCTTTGATGC	0.592000											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	45					0	0	1	0	0
ARMC4P1	101060171	broad.mit.edu	37	10	27551988	27551988	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:27551988G>A	ENST00000576034.1	+	0	244																											TGGAATCCTCGAAATCACCCC	0.448000													5	7					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59073705	59073705	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:59073705G>A	ENST00000215057.2	-	6	2499	c.1939C>T	c.(1939-1941)Cac>Tac	p.H647Y	MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.H647Y	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	647					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCGCCCGTGTGGATGCGCTGG	0.687000													5	8					0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49617959	49617959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:49617959C>T	ENST00000374189.1	+	4	471	c.290C>T	c.(289-291)tCc>tTc	p.S97F	MAPK8_ENST00000360332.3_Missense_Mutation_p.S97F|MAPK8_ENST00000374174.1_Missense_Mutation_p.S97F|MAPK8_ENST00000374182.3_Missense_Mutation_p.S97F|MAPK8_ENST00000395611.3_Missense_Mutation_p.S97F			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	97	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCACAGAAATCCCTAGAAGAA	0.284000													6	27					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123780625	123780625	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:123780625T>A	ENST00000422452.2	-	9	1678	c.1615A>T	c.(1615-1617)Aat>Tat	p.N539Y	TENM1_ENST00000371130.3_Missense_Mutation_p.N539Y	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACTCTCCATTTCCATTGCAA	0.378000													11	7					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10569321	10569321	+	Missense_Mutation	SNP	G	G	A	rs138941727		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:10569321G>A	ENST00000396439.2	-	5	576	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	KLRC3_ENST00000381903.2_Missense_Mutation_p.R178C|KLRC3_ENST00000381904.2_Missense_Mutation_p.R178C|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178C	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.R178C(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCTGTTACGAAACACACCA	0.294000													4	27					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256910	63256910	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:63256910C>T	ENST00000323865.3	-	1	870	c.637G>A	c.(637-639)Gtt>Att	p.V213I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	213					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATAGAGAACCAGCATGAGC	0.572000													76	93					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664489	183664489	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:183664489C>T	ENST00000511685.1	+	19	3669	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.I1182I					teneurin transmembrane protein 3																		CTTGTGGGATCGATGGCAGTC	0.498000													6	37					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861448	26861448	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:26861448G>A	ENST00000226247.2	+	6	1056	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	FOXN1_ENST00000579795.1_Missense_Mutation_p.G343S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	343					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTCCCGCAAGGGCTGCCTGTG	0.537000													7	46					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494444	134494444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:134494444C>T	ENST00000339249.4	+	5	1140	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	334					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTTGCTCGGAAGTCACA	0.448000													27	33					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313032	48313032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:48313032C>T	ENST00000435803.1	+	17	3793	c.3769C>T	c.(3769-3771)Ctt>Ttt	p.L1257F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1257					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAGAAATCCCTTTTCACCAT	0.383000													7	13					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100346083	100346083	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100346083C>T	ENST00000542585.1	+	0	1387				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGGAGGTTTCCCTAATGCAG	0.582000													8	12					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458949	45458949	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:45458949C>T	ENST00000548424.1	+	0	448																											TTCACTCAGTCTCTGCTTTTA	0.438000													5	21					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72845663	72845663	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:72845663G>A	ENST00000268489.5	-	7	4349	c.3677C>T	c.(3676-3678)cCc>cTc	p.P1226L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P312L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1226					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCAGTAGGGACACTGGTA	0.567000													55	22					0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48715042	48715042	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:48715042G>A	ENST00000391898.3	-	11	1581	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	CARD8_ENST00000357778.5_Intron|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Silent_p.A463A|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000519940.1_Silent_p.A513A|CARD8_ENST00000447740.2_Silent_p.A463A|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000359009.4_Silent_p.A407A|CARD8_ENST00000520153.1_Silent_p.A463A	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	407					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GCACGTCCAGGGCCAGGTCCC	0.488000													37	111					0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110024576	110024576	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110024576C>T	ENST00000228510.3	+	7	725	c.649C>T	c.(649-651)Cat>Tat	p.H217Y	MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.H165Y|MVK_ENST00000541384.1_Missense_Mutation_p.H23Y|MVK_ENST00000539575.1_Missense_Mutation_p.H165Y	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	217					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						CCTCCGATACCATCAAGGGAA	0.507000													12	42					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10091776	10091776	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:10091776C>T	ENST00000264828.3	-	33	2578	c.2493G>A	c.(2491-2493)gaG>gaA	p.E831E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	831	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTGGTCCCCGCTCTCCTTCCA	0.527000													13	34					0	0	1	0	0
DEFB121	245934	broad.mit.edu	37	20	29993905	29993905	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:29993905G>A	ENST00000376314.2	-	1	164	c.51C>T	c.(49-51)gtC>gtT	p.V17V	DEFB121_ENST00000376312.3_Intron	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	17					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACCTGGGGTGACCTGGGCCA	0.507000													12	25					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672566	141672566	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141672566C>T	ENST00000547270.1	-	1	1007	c.924G>A	c.(922-924)gtG>gtA	p.V308V		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	308					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAATGGTCATCACAGCTCTCC	0.522000													29	34					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230795218	230795218	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:230795218C>T	ENST00000366669.4	+	2	196	c.81C>T	c.(79-81)ttC>ttT	p.F27F	COG2_ENST00000366668.3_Silent_p.F27F|COG2_ENST00000535166.1_5'UTR|COG2_ENST00000534989.1_5'UTR|COG2_ENST00000494371.1_3'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	27					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.F27F(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGAAGATTTCGATGTCGATC	0.378000													24	19					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284365	118284365	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:118284365C>T	ENST00000402510.2	-	1	177	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	60										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGGTGCTTCCCTCCTTCTTG	0.582000													7	16					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337828	37337828	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:37337828G>A	ENST00000373091.3	-	4	709	c.693C>T	c.(691-693)ttC>ttT	p.F231F	GRIK3_ENST00000373093.4_Silent_p.F231F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	231					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCTGCAGTCGAAGATAATGC	0.607000													11	33					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266471	43266471	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43266471C>T	ENST00000372585.5	+	1	470	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SLC22A7_ENST00000372589.3_Silent_p.S125S|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Silent_p.S125S	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	125						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGAATTCTCCTCTACCATTG	0.552000													7	38					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45380161	45380161	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:45380161G>A	ENST00000559488.1	+	13	2105	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ITGB3_ENST00000560629.1_Silent_p.*685*|ITGB3_ENST00000435993.2_Missense_Mutation_p.E650K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	697					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCAGTACTATGAAGATTCTAG	0.507000													7	41					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44042272	44042272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:44042272G>A	ENST00000258704.3	+	2	480	c.343G>A	c.(343-345)Gag>Aag	p.E115K	POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	115										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TGAGGAGTCGGAGGAGGAGCC	0.592000													18	38					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363728	20363728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:20363728C>T	ENST00000423676.3	-	2	131	c.68G>A	c.(67-69)gGg>gAg	p.G23E	LGALS9B_ENST00000324290.5_Missense_Mutation_p.G23E			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	23	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGGAGACCCCCTTGGATAGT	0.577000													39	32					0	0	1	0	0
INTS4P2	644619	broad.mit.edu	37	7	65159994	65159994	+	RNA	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:65159994A>T	ENST00000430126.2	+	0	1164																											CCAGGTAGAAAACTGGTGTCA	0.438000													9	24					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060070	54060070	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:54060070G>A	ENST00000312233.2	-	3	1072	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	169					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGAGACAGGGGATAGGGGGG	0.692000													8	13					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446814	226446814	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:226446814C>T	ENST00000272907.6	+	4	1094	c.681C>T	c.(679-681)tcC>tcT	p.S227S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	227																	GGGACTCCTCCTTGTCCCAGA	0.587000													49	82					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666901	12666901	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:12666901C>T	ENST00000425538.1	+	14	3101	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Silent_p.F919F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	919					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCGATTTCCTGGATGTCA	0.517000													9	20					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69120309	69120309	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:69120309C>T	ENST00000229179.4	+	19	1939	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	NUP107_ENST00000539906.1_Missense_Mutation_p.S507F|NUP107_ENST00000378905.2_Missense_Mutation_p.S385F	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	536					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATGGCTTTCCAAAAGCAGA	0.348000													49	22					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245202	46245202	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:46245202C>T	ENST00000296140.3	-	2	728	c.603G>A	c.(601-603)ctG>ctA	p.L201L	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	201					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGTTCAGTTTCAGAGCCTGAA	0.448000													23	48					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78110071	78110071	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78110071G>A	ENST00000269349.3	-	10	1268	c.1047C>T	c.(1045-1047)atC>atT	p.I349I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	349	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CATAGTTAATGATGAGGGACA	0.423000													5	41					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313967	79313967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:79313967C>T	ENST00000305089.3	-	3	234	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	52	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.E52*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGGGTCTTCATTAAAGTAG	0.532000													49	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216256814	216256814	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:216256814C>T	ENST00000366943.2	-	26	5668	c.5282G>A	c.(5281-5283)gGa>gAa	p.G1761E	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1761E|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1761	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAATCAGGTCCATCTTTGTT	0.294000										HNSCC(13;0.011)			7	57					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35804452	35804452	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:35804452C>T	ENST00000216122.4	+	6	802	c.648C>T	c.(646-648)ccC>ccT	p.P216P	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Silent_p.P173P	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	216					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCATCATGCCCGACAAATGCA	0.557000													16	54					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53619674	53619674	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53619674C>T	ENST00000594011.1	-	4	286	c.28G>A	c.(28-30)Gac>Aac	p.D10N	ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.D10N|ZNF415_ENST00000243643.4_Missense_Mutation_p.D10N|ZNF415_ENST00000595813.1_Missense_Mutation_p.D10N|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000597503.1_Missense_Mutation_p.D10N|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000595193.1_Missense_Mutation_p.D10N|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000600574.1_Missense_Mutation_p.D10N|ZNF415_ENST00000597748.1_Missense_Mutation_p.D10N|ZNF415_ENST00000599261.1_Missense_Mutation_p.D10N			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGGCCACGTCCCTGAATGTC	0.393000													19	38					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680207	67680207	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:67680207G>A	ENST00000433211.1	-	18	2743	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S	CTNNA3_ENST00000373735.1_Missense_Mutation_p.P196S|CTNNA3_ENST00000373744.4_Missense_Mutation_p.P857S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	857					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTAATCAAGGGTTTTTTTGCA	0.468000													19	76					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66972137	66972137	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:66972137C>T	ENST00000317091.4	+	2	1450	c.466C>T	c.(466-468)Ccg>Tcg	p.P156S	CES2_ENST00000417689.1_Missense_Mutation_p.P156S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	92					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AACCACCCATCCGGCCATGTA	0.592000													8	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616512	179616512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179616512G>A	ENST00000360870.5	-	46	10837	c.10615C>T	c.(10615-10617)Cat>Tat	p.H3539Y	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3538	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATTGTTATGAAACCAAGTC	0.388000													36	24					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142499027	142499027	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142499027G>A	ENST00000466254.1	+	0	303																											CCAGTTCTACGGGCTCTCGGA	0.627000													38	122					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937858	75937858	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:75937858G>A	ENST00000307428.7	+	2	479	c.267G>A	c.(265-267)gaG>gaA	p.E89E	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	89					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGAAGAGGAGATCACCAGCC	0.522000													15	65					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965657	43965657	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43965657A>C	ENST00000244333.3	-	5	975	c.887T>G	c.(886-888)tTg>tGg	p.L296W		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	296						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GCCTCCAGTCAACCTGGGCTC	0.627000													15	34					0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42693393	42693393	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:42693393T>A	ENST00000254250.3	-	3	584	c.354A>T	c.(352-354)ttA>ttT	p.L118F	THAP1_ENST00000345117.2_Missense_Mutation_p.Y53F	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	118					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCGGCATTAGTAATCCAATAG	0.463000													32	119					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151336	105151336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:105151336C>T	ENST00000303694.5	+	3	1253	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	CHST11_ENST00000549260.1_Missense_Mutation_p.H267Y	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	272					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTGCCACATCCACTATGACCT	0.557000													8	24					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940730	86940730	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:86940730C>T	ENST00000441037.2	+	17	2465	c.2370C>T	c.(2368-2370)atC>atT	p.I790I	AGBL1_ENST00000389298.3_Silent_p.I521I|AGBL1_ENST00000421325.2_Silent_p.I790I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	790					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AAAACTTCATCTTCAAGATCA	0.507000													19	73					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151170731	151170731	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151170731C>T	ENST00000296550.7	+	15	2722	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	DCLK2_ENST00000506325.1_Silent_p.S655S|DCLK2_ENST00000302176.8_Silent_p.S673S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	656					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATGATGCCTCCCAGGAGAATA	0.468000													17	35					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671555	45671555	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:45671555G>A	ENST00000308064.2	-	4	1589	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	307					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATAGGGTTCCGAGCCAGGTCC	0.642000													43	44					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059813	40059813	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40059813C>T	ENST00000336649.4	+	22	3582	c.3582C>T	c.(3580-3582)gcC>gcT	p.A1194A	CACNA1I_ENST00000404898.1_Silent_p.A1153A|CACNA1I_ENST00000407673.1_Silent_p.A1153A|CACNA1I_ENST00000402142.3_Silent_p.A1188A|CACNA1I_ENST00000401624.1_Silent_p.A1188A|CACNA1I_ENST00000400164.3_Silent_p.A1153A			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1188					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCACCATCGCCCTGGAGCGGC	0.627000													29	207					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104056731	104056731	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:104056731G>A	ENST00000388887.2	+	18	2181	c.1977G>A	c.(1975-1977)ccG>ccA	p.P659P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	659					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATTGTCCCGATTCTGCCCC	0.453000													40	39					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133094	133094	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:133094G>A	ENST00000219431.4	+	4	590	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MPG_ENST00000397817.1_Missense_Mutation_p.R103H	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	120			R -> C (in dbSNP:rs2308313).		depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCCGAGGCCGCATCGTGGAG	0.637000								Base excision repair (BER), DNA glycosylases					4	175					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136031458	136031458	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136031458G>A	ENST00000542690.1	-	4	449	c.169C>T	c.(169-171)Cac>Tac	p.H57Y	GBGT1_ENST00000372043.3_Intron|GBGT1_ENST00000372040.3_Intron|GBGT1_ENST00000472281.1_Intron|GBGT1_ENST00000540636.1_Intron|GBGT1_ENST00000372038.3_Missense_Mutation_p.H57Y			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGTTGCTGGTGGCAGAGGCAA	0.582000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								7	18					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835658	110835658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:110835658G>A	ENST00000296632.3	-	6	678	c.544C>T	c.(544-546)Cct>Tct	p.P182S	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	182	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GCAGACTGAGGAATCATCCCA	0.408000													16	60					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008568	11008568	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11008568C>T	ENST00000377004.4	-	12	1623	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	C1orf127_ENST00000377008.4_Missense_Mutation_p.E375K	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	393										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTAGACCTTCAGTCAGGGTG	0.607000													24	40					0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417261	174417261	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:174417261C>T	ENST00000367685.2	+	1	50	c.12C>T	c.(10-12)tcC>tcT	p.S4S	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	4						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TGAATGAATCCAGGTGGACTG	0.507000													24	56					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667669	70667669	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70667669C>T	ENST00000260126.3	-	4	1954	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	SLCO5A1_ENST00000530307.1_Silent_p.K416K|SLCO5A1_ENST00000524945.1_Silent_p.K416K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	416						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCTGACATCCTTTCCAAATC	0.418000													7	24					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226565	39226565	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39226565G>A	ENST00000340369.3	-	2	4600	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P141S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1458							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCTCTCAGGGGCCCCTTGG	0.632000													62	72					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101513724	101513724	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:101513724C>T	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA																							AGGACAATTTCTTTTTGAGTA	0.478000													11	13					0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48046976	48046976	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48046976C>T	ENST00000240306.3	+	1	439	c.144C>T	c.(142-144)tcC>tcT	p.S48S	DLX4_ENST00000505318.2_Silent_p.S48S|DLX4_ENST00000503410.1_Intron	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	48				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TGTCCTACTCCAGGCCGTATG	0.652000													38	230					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497433	149497433	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149497433C>T	ENST00000378016.2	+	0	7191							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCAGACGCCCTGTGAGGTGC	0.687000													6	26					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187497	140187497	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140187497T>C	ENST00000530339.1	+	1	725	c.725T>C	c.(724-726)tTt>tCt	p.F242S	PCDHA4_ENST00000512229.2_Missense_Mutation_p.F242S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.F242S|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCAGCTTTTGACAGAACC	0.423000													15	44					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664755	134664755	+	Missense_Mutation	SNP	G	G	A	rs150206082		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134664755G>A	ENST00000368586.5	-	40	5729	c.5629C>T	c.(5629-5631)Ctc>Ttc	p.L1877F	TTC40_ENST00000263170.5_Missense_Mutation_p.L38F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	38										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATTTCCACGAGGCCGAGCTTG	0.607000													9	36					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039412	55039412	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:55039412C>T	ENST00000456047.2	-	3	366	c.177G>A	c.(175-177)agG>agA	p.R59R	DCD_ENST00000293371.6_Silent_p.R59R			P81605	DCD_HUMAN	dermcidin	59					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				ATCTCTGCTTCCTTGGCTTTG	0.517000													7	40					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86313446	86313446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:86313446C>T	ENST00000370571.2	-	39	3730	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1122R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1122	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTATTTGTCCTTTATCACCC	0.403000													18	38					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760588	133760588	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133760588C>T	ENST00000318560.5	+	11	3292	c.2911C>T	c.(2911-2913)Ccg>Tcg	p.P971S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	971	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTCCGCCAAGCCGTCGGGGAC	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								14	89					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508808	24508808	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:24508808C>T	ENST00000376454.3	+	2	354	c.324C>T	c.(322-324)atC>atT	p.I108I	KIAA1217_ENST00000376462.1_Silent_p.I28I|KIAA1217_ENST00000458595.1_Silent_p.I108I|KIAA1217_ENST00000376452.3_Silent_p.I108I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	108					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCTGCAATCATGGGTCACC	0.478000													17	28					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50279880	50279880	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:50279880A>C	ENST00000261667.3	-	15	1663	c.1249T>G	c.(1249-1251)Tgt>Ggt	p.C417G		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	417					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		AGTAAATTACAGAACGGTGGT	0.363000													22	38					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879792	27879792	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27879792G>A	ENST00000303324.2	-	1	382	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCAGGAAAATGAAAAGCTGGG	0.448000													21	25					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617801	54617801	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:54617801G>A	ENST00000302287.3	+	4	978	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q|VSTM2A_ENST00000498834.1_3'UTR			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	191						extracellular region		p.R190Q(2)|p.R191Q(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACCAACGAACGCACTCC	0.547000													3	11					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713106	70713106	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:70713106G>A	ENST00000530196.1	-	0	1412					NR_003951.1																						ACTGCTGTACGGATCCACAGT	0.478000													12	14					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099751	110099751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:110099751G>A	ENST00000518632.1	+	2	361	c.10G>A	c.(10-12)Gag>Aag	p.E4K	TRHR_ENST00000311762.2_Missense_Mutation_p.E4K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	4						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGGAAAACGAGACAGTCAG	0.458000													3	35					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981827	176981827	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:176981827G>A	ENST00000249501.4	+	1	521	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	89						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGATCTTGTCGAATAGAGCAA	0.428000													13	33					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256605	186256605	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:186256605G>A	ENST00000392499.2	-	4	756	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CRYGS_ENST00000307944.5_Silent_p.F139F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	139	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GTAGCTCATAGAAAATCCAGA	0.532000													24	29					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2702491	2702491	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2702491C>T	ENST00000399655.1	+	19	2908	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	CACNA1C_ENST00000399597.1_Silent_p.F881F|CACNA1C_ENST00000399649.1_Silent_p.F881F|CACNA1C_ENST00000399629.1_Silent_p.F881F|CACNA1C_ENST00000344100.3_Silent_p.F881F|CACNA1C_ENST00000335762.5_Silent_p.F906F|CACNA1C_ENST00000480911.1_Silent_p.F881F|CACNA1C_ENST00000399637.1_Silent_p.F881F|CACNA1C_ENST00000327702.7_Silent_p.F881F|CACNA1C_ENST00000399603.1_Silent_p.F881F|CACNA1C_ENST00000347598.4_Silent_p.F881F|CACNA1C_ENST00000399601.1_Silent_p.F881F|CACNA1C_ENST00000399617.1_Silent_p.F881F|CACNA1C_ENST00000399621.1_Silent_p.F881F|CACNA1C_ENST00000399634.1_Silent_p.F881F|CACNA1C_ENST00000399606.1_Silent_p.F881F|CACNA1C_ENST00000399638.1_Silent_p.F881F|CACNA1C_ENST00000399644.1_Silent_p.F881F|CACNA1C_ENST00000399591.1_Silent_p.F881F|CACNA1C_ENST00000399595.1_Silent_p.F881F|CACNA1C_ENST00000399641.1_Silent_p.F881F|CACNA1C_ENST00000402845.3_Silent_p.F881F|CACNA1C_ENST00000406454.3_Silent_p.F881F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	881					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGCGTTTTTCATCTTCAGCT	0.557000													4	16					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480590	10480590	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10480590C>T	ENST00000382483.3	-	2	345	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	41					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGATCCCCTCGCTTGAGGAA	0.662000													10	50					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927084	111927084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:111927084C>T	ENST00000305815.5	-	16	2179	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E595K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	643	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGTTTTAATTCGCTGTGGTAG	0.303000													49	57					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793326	124793326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124793326C>T	ENST00000298251.4	-	4	1118	c.713G>A	c.(712-714)aGa>aAa	p.R238K		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	238					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGGGAGCTTCTTCCTAGGGA	0.537000													14	13					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348290	26348290	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:26348290G>A	ENST00000335473.7	+	38	6121	c.5871G>A	c.(5869-5871)caG>caA	p.Q1957Q	MYO18B_ENST00000407587.2_Silent_p.Q1958Q|MYO18B_ENST00000536101.1_Silent_p.Q1957Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1957	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCTGGAACAGTCCACCGTGG	0.512000													4	12					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166241	32166241	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32166241C>T	ENST00000375023.3	-	26	4851	c.4713G>A	c.(4711-4713)caG>caA	p.Q1571Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1571					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTCAGATTCCTGGGGAGGAG	0.547000													20	29					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46772952	46772952	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:46772952G>A	ENST00000529230.1	-	39	5312	c.5266C>T	c.(5266-5268)Ccc>Tcc	p.P1756S	CKAP5_ENST00000312055.5_Missense_Mutation_p.P1696S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1756S|CKAP5_ENST00000354558.3_Missense_Mutation_p.P1696S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1756					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTCCTTATGGGAAATTCACTT	0.418000													19	94					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47018295	47018295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:47018295G>A	ENST00000502492.1	-	3	617	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	SNF8_ENST00000290330.3_Missense_Mutation_p.P79S			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	79					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CAGGCCAGCGGATCCACGCCA	0.512000													20	121					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013533	133013533	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:133013533G>A	ENST00000367928.4	-	5	1030	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	339					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGAATTCATCGAAAAAGACAG	0.423000													19	13					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844524	61844524	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:61844524C>T	ENST00000280772.1	-	32	4101	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K	ANK3_ENST00000373827.2_Missense_Mutation_p.E1298K|ANK3_ENST00000355288.2_Missense_Mutation_p.E438K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1305K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1304					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CATATCAATTCTCTGTACAGT	0.393000													35	42					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69639608	69639608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:69639608C>T	ENST00000374403.3	+	30	3552	c.3470C>T	c.(3469-3471)cCc>cTc	p.P1157L		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1157	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTTTAATCCCGTCTGTGCC	0.517000													33	13					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638596	32638596	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:32638596G>A	ENST00000286827.3	-	5	1164	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.S231S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	231					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTCACCCAAGGAATTGGCTC	0.562000													38	30					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748625	73748625	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73748625G>A	ENST00000200181.3	+	32	4262	c.4075G>A	c.(4075-4077)Ggc>Agc	p.G1359S	ITGB4_ENST00000579662.1_Missense_Mutation_p.G1359S|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1359S|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1359S|ITGB4_ENST00000449880.2_Missense_Mutation_p.G1359S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1359					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTCCATCGGGCAGCCAGAG	0.597000													22	118					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11137451	11137451	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11137451G>A	ENST00000376936.4	-	16	1899	c.1850C>T	c.(1849-1851)cCg>cTg	p.P617L	EXOSC10_ENST00000544779.1_Silent_p.S669S|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P617L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	617					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATAGCCATCCGGAGGGGCATG	0.522000													13	107					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097128	183097128	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:183097128C>T	ENST00000328913.3	-	3	529	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E78K|MCF2L2_ENST00000414362.2_Missense_Mutation_p.E78K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E78K	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	78	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGGAAGTCTTCATCTGGGATG	0.532000													10	32					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044133	75044133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:75044133C>T	ENST00000343932.4	+	4	1043	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	327					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACAGCCATCTCCTGGAGCCTC	0.512000													64	76					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546416	50546416	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:50546416G>A	ENST00000267845.3	-	6	1033	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	HDC_ENST00000543581.1_Silent_p.L211L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	211					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCCACAGGCAGAAATTTCATC	0.512000													18	58					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917510	186917510	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:186917510G>A	ENST00000312295.4	+	2	474	c.444G>A	c.(442-444)gaG>gaA	p.E148E	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	148					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCTGGAGGAGAACATCGAGG	0.692000													20	25					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431577	38431577	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:38431577G>A	ENST00000356264.2	-	19	1865	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	AMPH_ENST00000428293.2_Silent_p.N508N|AMPH_ENST00000325590.5_Silent_p.N508N	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	550					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCTCTTCATGGTTGGAGGCAG	0.587000													22	45					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110814670	110814670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:110814670C>T	ENST00000375820.4	-	48	4490	c.4369G>A	c.(4369-4371)Gac>Aac	p.D1457N	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1457	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CACTGTGGGTCATCTATTGTT	0.552000													53	62					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248739	141248739	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:141248739G>A	ENST00000287008.3	-	2	445	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PCDH1_ENST00000394536.3_Missense_Mutation_p.R100C|PCDH1_ENST00000536585.1_Missense_Mutation_p.R78C|PCDH1_ENST00000456271.1_Missense_Mutation_p.R100C|PCDH1_ENST00000503492.1_Missense_Mutation_p.R100C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	100	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCATCCACGCGAAGGTACGGG	0.592000													13	19					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170153	20170153	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:20170153G>A	ENST00000338912.5	-	0	118																											AGCCTTGCAGGAGATCCTCAC	0.572000													32	60					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942227	134942227	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134942227G>A	ENST00000607359.1	+	16	3052	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	GPR123_ENST00000392606.2_Missense_Mutation_p.G202R|GPR123_ENST00000392607.3_Missense_Mutation_p.G299R			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGTGACCCTGGGACTCTTCGT	0.672000													10	39					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586733	15586733	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15586733C>T	ENST00000292609.4	-	2	877	c.748G>A	c.(748-750)Gac>Aac	p.D250N	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D250N			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	250					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GAGAGCTGGTCCCAGCAGCCC	0.617000													9	16					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090225	238090225	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:238090225C>T	ENST00000450451.1	+	0	1731					NR_027247.2																						GCTGTGTTTCCCTCCATCATT	0.597000													5	6					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36766013	36766013	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36766013G>A	ENST00000244751.2	-	6	957	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	111	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTGGCCCAGGAAATCCTGCA	0.602000													6	15					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156011741	156011741	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156011741G>A	ENST00000368309.3	-	9	1480	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	UBQLN4_ENST00000368307.1_Silent_p.S115S	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	463						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CATGGCTCGGGGATTGGTAAG	0.577000													26	39					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015564	93015564	+	Silent	SNP	C	C	T	rs150605439		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:93015564C>T	ENST00000333334.2	+	1	681	c.186C>T	c.(184-186)gcC>gcT	p.A62A	C15orf32_ENST00000556865.1_Silent_p.A62A	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	62										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTATACTAGCCCTTGTTGGGG	0.473000													26	129					0	0	1	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020849	33020849	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:33020849G>A	ENST00000565407.2	+	0	257				RP11-19N8.2_ENST00000567619.1_RNA																							GTGAAGGGCCGATTCACCATC	0.512000													77	228					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660720	134660720	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134660720C>T	ENST00000368586.5	-	42	6158	c.6058G>A	c.(6058-6060)Gag>Aag	p.E2020K	TTC40_ENST00000263170.5_Missense_Mutation_p.E181K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	181										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGCAGTGCTCCTCCGGGGCT	0.697000													27	35					0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084298	13084298	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:13084298C>T	ENST00000317060.2	+	2	599	c.420C>T	c.(418-420)acC>acT	p.T140T	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	140	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CGGACCCCACCCCACTAGTCC	0.622000													26	49					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131975995	131975995	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:131975995C>T	ENST00000356920.5	+	1	114	c.20C>T	c.(19-21)tCc>tTc	p.S7F	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S7F|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	7							ATP binding										GAGGTTGATTCCATGCCGGCT	0.537000													37	26					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039413	55039413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:55039413C>T	ENST00000456047.2	-	3	365	c.176G>A	c.(175-177)aGg>aAg	p.R59K	DCD_ENST00000293371.6_Missense_Mutation_p.R59K			P81605	DCD_HUMAN	dermcidin	59					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TCTCTGCTTCCTTGGCTTTGG	0.517000													7	40					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105669022	105669022	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:105669022C>T	ENST00000343407.5	+	15	1762	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.V678V|CDHR3_ENST00000542731.1_Silent_p.V766V|CDHR3_ENST00000317716.9_Silent_p.V766V			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	0	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGAGAGACGTCGTGGTGGTGA	0.567000													16	25					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793077	21793077	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:21793077C>T	ENST00000206660.6	+	14	2063	c.2063C>T	c.(2062-2064)tCg>tTg	p.S688L	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.S650L|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.S47L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.S688L|RPGRIP1_ENST00000553500.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	688					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGACAGATTCGCTTTTCTTA	0.498000													38	79					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732660	92732660	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92732660G>A	ENST00000379958.2	-	3	3020	c.2751C>T	c.(2749-2751)ctC>ctT	p.L917L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	917						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAAAGAAAAGAGCTTTGCTT	0.348000													13	37					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7530240	7530240	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:7530240C>T	ENST00000399429.3	-	12	1204	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	355	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCAGGAGCTCCTGGAGAACC	0.453000													5	20					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72306417	72306417	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:72306417C>T	ENST00000340595.3	+	5	956	c.760C>T	c.(760-762)Cct>Tct	p.P254S	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P298S|SLC4A4_ENST00000351898.6_Missense_Mutation_p.P298S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P298S|SLC4A4_ENST00000512686.1_Missense_Mutation_p.P254S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	298						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTGGATACTCCTTTCATTGC	0.488000													16	67					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905565	50905565	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:50905565C>T	ENST00000440232.2	+	6	746	c.693C>T	c.(691-693)atC>atT	p.I231I	POLD1_ENST00000595904.1_Silent_p.I231I|POLD1_ENST00000599857.1_Silent_p.I231I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	231					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AACAGGGCATCCGTGTGGCAG	0.697000								DNA polymerases (catalytic subunits)					20	39					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851782	39851782	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:39851782G>T	ENST00000538976.1	+	15	2072	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.Q630H|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.Q630H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	630	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGACATGCAGGTATTTCGGA	0.493000													6	17					0.00116845	0.00117357	1	1	0
CR2	1380	broad.mit.edu	37	1	207639886	207639886	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:207639886C>T	ENST00000367057.3	+	2	263	c.74C>T	c.(73-75)tCt>tTt	p.S25F	CR2_ENST00000367058.3_Missense_Mutation_p.S25F|CR2_ENST00000367059.3_Missense_Mutation_p.S25F|CR2_ENST00000458541.2_Missense_Mutation_p.S25F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	25	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTTGTGGCTCTCCTCCGCCT	0.408000													62	62					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7404246	7404246	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:7404246C>T	ENST00000379834.2	+	9	1347	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	280	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TGAGTTTCATCGGTAAAGATG	0.338000													21	95					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972186	43972186	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43972186G>A	ENST00000262726.7	-	26	3664	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	EFCAB6_ENST00000396231.2_Silent_p.F985F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCCTCAAGGAAACAGCTAA	0.313000													5	41					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67133595	67133595	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:67133595G>A	ENST00000284425.2	-	3	317	c.143C>T	c.(142-144)tCc>tTc	p.S48F	ABCA6_ENST00000590645.1_Missense_Mutation_p.S48F	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	48					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATGGAACTGGAAAACAGAGC	0.368000													5	48					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369506	7369506	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7369506G>A	ENST00000311403.4	-	3	954	c.615C>T	c.(613-615)ccC>ccT	p.P205P	ZBTB4_ENST00000380599.4_Silent_p.P205P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCCTGGGCCCGGGCCCAAAGC	0.721000													11	29					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360026	21360026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:21360026C>T	ENST00000304639.3	+	2	239	c.181C>T	c.(181-183)Cga>Tga	p.R61*		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	61					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TAACAATTATCGATGGCGTTG	0.448000													43	27					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604556	58604556	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58604556T>A	ENST00000287275.1	-	5	798	c.408A>T	c.(406-408)gaA>gaT	p.E136D	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E136D	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	136						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTTTGGTAATTCCGGTATAA	0.388000													13	62					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098264	177098264	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:177098264G>A	ENST00000393643.2	+	28	3802	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	WDR17_ENST00000507824.2_Missense_Mutation_p.E1183K|WDR17_ENST00000508596.1_Missense_Mutation_p.E1169K|WDR17_ENST00000280190.4_Missense_Mutation_p.E1208K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1208										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATATCTTTCTGAGGAATTGGA	0.363000													8	27					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800119	152800119	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152800119G>A	ENST00000335123.2	+	1	171	c.171G>A	c.(169-171)ggG>ggA	p.G57G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	57	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCTCTGGGGGCGGCTGCA	0.672000													25	80					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381832	102381832	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:102381832G>A	ENST00000419462.1	+	0	1244					NR_002182.1																						AGCTTGGTTTGAAATTTGTAC	0.303000													6	41					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654776	28654776	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28654776G>A	ENST00000280904.6	-	12	2204	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	DSC2_ENST00000251081.6_Silent_p.P587P	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	587	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATGACATGGTGGGTTTGCAGA	0.463000													16	9					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82406865	82406865	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:82406865C>T	ENST00000282268.3	+	3	333	c.158C>T	c.(157-159)tCc>tTc	p.S53F	XRCC4_ENST00000511817.1_Missense_Mutation_p.S53F|XRCC4_ENST00000396027.4_Missense_Mutation_p.S53F|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.S53F	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	53					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TCAGAGATTTCCCAAGAAGCT	0.338000								Non-homologous end-joining					5	12					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311293	117311293	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:117311293C>T	ENST00000369478.3	+	5	1052	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	315	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCTCCTGCTCCGTCGGGCACA	0.622000													22	92					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641751	99641751	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:99641751C>T	ENST00000345514.2	-	3	1475	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	BCL11B_ENST00000357195.3_Missense_Mutation_p.M474I|BCL11B_ENST00000443726.2_Missense_Mutation_p.M280I	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	474						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTGCGTCTTCATGTGGCGCT	0.706000			T	TLX3	T-ALL								7	16					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647019	57647019	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57647019C>T	ENST00000269834.1	-	5	1071	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTAGGCATTTCCACAGTTCTC	0.418000													22	56					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823912	156823912	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156823912C>T	ENST00000368195.3	-	2	665	c.269G>A	c.(268-270)gGa>gAa	p.G90E	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	90					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCTCCAGTCCGTAGACACG	0.617000													8	37					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727573	154727573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:154727573G>A	ENST00000607772.1	-	13	2127	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	CNKSR3_ENST00000433165.2_Missense_Mutation_p.S353F|CNKSR3_ENST00000479339.1_Missense_Mutation_p.S448F	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	528	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TGAGGAGCCAGATTTCTTTTT	0.562000													19	34					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897004	36897004	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:36897004G>A	ENST00000429976.2	-	12	4324	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	TRANK1_ENST00000428977.2_Silent_p.S809S|TRANK1_ENST00000301807.6_Silent_p.S809S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1359					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AACCTTTCTGGGACCTGATTT	0.473000													28	92					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767055	77767055	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:77767055A>C	ENST00000521891.2	+	10	8346	c.7898A>C	c.(7897-7899)aAa>aCa	p.K2633T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2607T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2588T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2588T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2588						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTACCAGAAAAATGCTTGAT	0.493000										HNSCC(33;0.089)			3	28					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876383	74876383	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:74876383G>A	ENST00000331628.3	-	2	312	c.65C>T	c.(64-66)cCc>cTc	p.P22L	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.P22L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	22					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTAGGGATAGGGGCCATGGAG	0.667000													27	18					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894098	23894098	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:23894098C>T	ENST00000355349.3	-	22	2721	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	853					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGAACTCCTCCTTCATGGAGG	0.552000													19	44					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25620815	25620815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:25620815G>A	ENST00000232165.3	-	5	814	c.158C>T	c.(157-159)tCc>tTc	p.S53F	UBE3A_ENST00000438097.1_Missense_Mutation_p.S33F|UBE3A_ENST00000566215.1_Missense_Mutation_p.S33F|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.S33F|UBE3A_ENST00000397954.2_Missense_Mutation_p.S56F	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	56					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGTTGGACAGGAAGCACAAAA	0.438000													13	70					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53814535	53814535	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:53814535C>T	ENST00000343017.6	+	1	947	c.753C>T	c.(751-753)ttC>ttT	p.F251F	SNX18_ENST00000381410.4_Silent_p.F251F|SNX18_ENST00000326277.3_Silent_p.F251F	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	251					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGTCAGGCTTCGTGAAGGACG	0.667000													40	66					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6042189	6042189	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:6042189G>C	ENST00000265849.7	-	5	537	c.432C>G	c.(430-432)atC>atG	p.I144M	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.I38M|PMS2_ENST00000406569.3_Missense_Mutation_p.I144M|PMS2_ENST00000382321.4_Missense_Mutation_p.I144M	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	144					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGGTTTTCTGGATAATTTTCC	0.493000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				24	82					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100514036	100514036	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:100514036C>A	ENST00000395996.1	+	26	4103	c.3992C>A	c.(3991-3993)cCc>cAc	p.P1331H	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1331H|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1331H			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1331					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGGTGCTTCCCAAAATTACT	0.453000													16	84					1.67942e-08	1.6976e-08	1	1	0
CACNG8	59283	broad.mit.edu	37	19	54466587	54466587	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:54466587G>A	ENST00000270458.2	+	1	294	c.191G>A	c.(190-192)gGg>gAg	p.G64E		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	64					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGCGACGACGGGACCCCCCAC	0.697000													11	27					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601619	139601619	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139601619C>G	ENST00000303045.6	-	65	5204	c.4758G>C	c.(4756-4758)gaG>gaC	p.E1586D	COL22A1_ENST00000435777.1_Missense_Mutation_p.E1566D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1586	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGTCCTGTCTCCCCTTGAG	0.617000										HNSCC(7;0.00092)			12	13					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128895	76128895	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:76128895T>A	ENST00000296677.4	+	2	669	c.463T>A	c.(463-465)Ttc>Atc	p.F155I		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	155					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TATTGGCTTTTTCTATGGCAA	0.478000													64	225					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611794	7611794	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7611794G>A	ENST00000226091.2	+	3	854	c.457G>A	c.(457-459)Gga>Aga	p.G153R		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	153					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GAGCCTGCAGGGAGGTGTGTG	0.617000													3	9					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607890	68607890	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:68607890C>T	ENST00000234313.7	+	3	413	c.234C>T	c.(232-234)gaC>gaT	p.D78D		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	78	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AACAGCAGGACCACTTCTTCC	0.473000													45	30					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475589	224475589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:224475589G>A	ENST00000281701.6	-	14	1941	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	NVL_ENST00000361463.3_Missense_Mutation_p.S455F|NVL_ENST00000391875.2_Missense_Mutation_p.S455F|NVL_ENST00000482491.1_Missense_Mutation_p.S285F|NVL_ENST00000469075.1_Missense_Mutation_p.S470F|NVL_ENST00000340871.4_Missense_Mutation_p.S372F	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	561						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTGGACTGAGGATAGAGCAAC	0.493000													4	32					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129285	52129285	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:52129285C>T	ENST00000222107.4	-	8	1602	c.1464_splice	c.e8+1	p.S488_splice	SIGLEC5_ENST00000570106.2_Splice_Site_p.S488_splice|SIGLEC5_ENST00000534261.2_Splice_Site_p.S488_splice|SIGLEC5_ENST00000429354.3_Splice_Site_p.S488_splice|SIGLEC5_ENST00000599649.1_Splice_Site_p.S488_splice			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	488					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AACCACTCACCGAGGTGATGG	0.527000													12	17					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114473274	114473274	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:114473274A>T	ENST00000513154.1	-	6	1197	c.871T>A	c.(871-873)Ttt>Att	p.F291I	TRIM36_ENST00000282369.3_Missense_Mutation_p.F303I|TRIM36_ENST00000514154.1_Missense_Mutation_p.F148I			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	303						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCTTTTCAAAATGTGTAATT	0.333000													29	59					0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805166	17805166	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:17805166G>T	ENST00000382247.1	-	3	1659	c.599C>A	c.(598-600)tCt>tAt	p.S200Y	DCAF16_ENST00000536863.1_Missense_Mutation_p.S200Y	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	200						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GTCAGTGTAAGAATAAGTAGT	0.393000													17	56					2.35188e-11	2.38405e-11	1	1	0
PKN1	5585	broad.mit.edu	37	19	14562765	14562765	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:14562765C>T	ENST00000242783.6	+	7	1260	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	PKN1_ENST00000342216.4_Silent_p.A371A	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	365	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCCGCCCAGCCCGGGGCCTTT	0.667000													6	19					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402639	33402639	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:33402639G>A	ENST00000358763.2	-	2	251	c.9C>T	c.(7-9)ttC>ttT	p.F3F	SYN3_ENST00000332840.5_Silent_p.F3F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	3	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTCGCCGGAGGAAATTCATGG	0.572000											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	73					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21288339	21288339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:21288339C>T	ENST00000354336.3	+	2	1093	c.584C>T	c.(583-585)tCc>tTc	p.S195F		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	195					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			AATAGGAATTCCAACAGTTAT	0.522000													24	59					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12342936	12342936	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12342936T>G	ENST00000358136.3	+	21	4907	c.4777T>G	c.(4777-4779)Ttg>Gtg	p.L1593V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1593V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1593					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGAATGGATTGTTCAGCCA	0.468000													23	70					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161012087	161012087	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:161012087G>A	ENST00000447678.1	-	24	3796	c.3676C>T	c.(3676-3678)Cct>Tct	p.P1226S	LPA_ENST00000316300.5_Missense_Mutation_p.P1226S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3734	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAACACCAAGGACTAATCTCA	0.478000													11	19					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814244	76814244	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:76814244C>T	ENST00000529803.1	+	1	359	c.359C>T	c.(358-360)gCc>gTc	p.A120V	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	120					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGAATGAGGCCGACGCCCTG	0.617000													8	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089977	9089977	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9089977C>T	ENST00000397910.4	-	1	2041	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	613	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGCTGCCTCCTGTCATTGA	0.542000													14	24					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	158261980	158261980	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:158261980C>T	ENST00000464171.1	+	9	872	c.747C>T	c.(745-747)atC>atT	p.I249I	RSRC1_ENST00000480820.1_Silent_p.I307I|RSRC1_ENST00000312179.6_Silent_p.I249I|RSRC1_ENST00000295930.3_Silent_p.I307I|RSRC1_ENST00000475278.2_Silent_p.I256I	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	307					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.I307M(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGTTATTTATCGAGAAAGCTG	0.333000													27	50					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378889	6378889	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:6378889G>C	ENST00000325203.5	-	4	1083	c.609C>G	c.(607-609)atC>atG	p.I203M	ANGPT2_ENST00000523120.1_Missense_Mutation_p.I203M|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.I151M|ANGPT2_ENST00000415216.1_Missense_Mutation_p.I203M			O15123	ANGP2_HUMAN	angiopoietin 2	203					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTAGTTGGATGATGTGCTTGT	0.323000													12	33					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69009423	69009423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:69009423G>A	ENST00000288368.4	+	22	2817	c.2540G>A	c.(2539-2541)aGc>aAc	p.S847N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	847					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTTTCTTCAGCTTAACTGCC	0.398000													3	23					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117868	37117868	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:37117868T>A	ENST00000435416.1	+	3	2561	c.1066T>A	c.(1066-1068)Tgt>Agt	p.C356S	ZNF382_ENST00000292928.2_Missense_Mutation_p.C357S|ZNF382_ENST00000439428.1_Missense_Mutation_p.C356S|ZNF382_ENST00000423582.1_Missense_Mutation_p.C308S			Q96SR6	ZN382_HUMAN	zinc finger protein 382	357	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGTATCGATTGTGGGAAGTC	0.468000													11	16					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075529	76075529	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76075529G>A	ENST00000395215.3	+	0	1169																											gcgaaagcaggaaaagaggct	0.607000													47	445					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449714	105449714	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:105449714C>T	ENST00000337685.2	+	5	1074	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	MUM1L1_ENST00000357175.2_Silent_p.L97L|MUM1L1_ENST00000372552.1_Silent_p.L97L	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	97										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACTGGGTATTCTGAATGAGAG	0.453000													11	6					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027539	37027539	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:37027539C>T	ENST00000358047.3	+	1	1108	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	352										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGTGTCCCATCTCTGCC	0.632000													36	12					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082649	97082649	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:97082649C>T	ENST00000335456.7	-	6	1184	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	NUTM2F_ENST00000253262.4_Silent_p.E403E|NUTM2F_ENST00000341207.4_Silent_p.E388E					NUT family member 2F																		CCAGCAGCTCCTCCATGATGT	0.637000													15	79					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215258	84215258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:84215258G>A	ENST00000567759.1	-	9	1228	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	TAF1C_ENST00000570117.1_Missense_Mutation_p.P17L|TAF1C_ENST00000378541.4_Missense_Mutation_p.P349L|TAF1C_ENST00000541676.1_Missense_Mutation_p.P256L|TAF1C_ENST00000341690.6_Missense_Mutation_p.P256L|TAF1C_ENST00000566732.1_Missense_Mutation_p.P323L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	349					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAGCTCCCCGGGCAGGTGAGG	0.662000													11	23					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22412950	22412950	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22412950G>A	ENST00000344548.3	+	5	448	c.197G>A	c.(196-198)aGa>aAa	p.R66K	CDC42_ENST00000315554.8_Missense_Mutation_p.R66K|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.R66K|CDC42_ENST00000421089.2_Missense_Mutation_p.R108K	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	66					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GATTATGACAGATTACGACCG	0.378000													15	69					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201882	135201882	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:135201882G>A	ENST00000372169.2	-	10	5285	c.5103C>T	c.(5101-5103)ttC>ttT	p.F1701F	SETX_ENST00000224140.5_Silent_p.F1701F|SETX_ENST00000393220.1_Silent_p.F1701F			Q7Z333	SETX_HUMAN	senataxin	1701					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCTCTTTAACGAAGGTGTCAG	0.418000													5	30					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610657	95610657	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:95610657G>A	ENST00000395505.2	-	3	396	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368000													21	96					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978389	45978389	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45978389G>A	ENST00000391620.1	-	1	254	c.210C>T	c.(208-210)ggC>ggT	p.G70G	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	70	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGCTGGTGCAGCCTGACTGGC	0.706000													55	53					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123199634	123199634	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:123199634G>A	ENST00000349780.4	-	25	4073	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F	CDK5RAP2_ENST00000360190.4_Silent_p.F1298F|CDK5RAP2_ENST00000360822.3_Silent_p.F1266F|CDK5RAP2_ENST00000359309.3_Silent_p.F1257F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1298					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTGTTCCTGGAAACCCTCGG	0.483000													7	27					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013205	44013205	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:44013205C>T	ENST00000269439.7	+	2	165	c.114C>T	c.(112-114)ttC>ttT	p.F38F	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	38							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCCGCCACTTCCACCTGGGCC	0.692000													6	12					0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897527	24897527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:24897527G>A	ENST00000267406.6	-	2	855	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	CBLN3_ENST00000555436.1_Missense_Mutation_p.H78Y	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	129	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		TTCACCACATGGAACCGGAAG	0.652000													43	101					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767085	205767085	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:205767085C>T	ENST00000367137.3	-	7	1953	c.939G>A	c.(937-939)agG>agA	p.R313R	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	313						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACAACACCTCCCTTGTGGCTG	0.587000													36	59					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593093	47593093	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:47593093C>T	ENST00000273859.3	+	23	4245	c.3976C>T	c.(3976-3978)Cca>Tca	p.P1326S		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1326					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						ATCCCTGTTTCCATCTCCAAT	0.443000													13	57					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631632	125631632	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:125631632A>G	ENST00000504087.1	-	2	1072	c.35T>C	c.(34-36)aTg>aCg	p.M12T	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	12										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGTTTGAGCCATTTTGCAGAC	0.423000													37	69					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249284	140249284	+	Missense_Mutation	SNP	C	C	T	rs10071369	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140249284C>T	ENST00000398640.2	+	1	596	c.596C>T	c.(595-597)tCt>tTt	p.S199F	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAAGAAGTCTCTGGATAGA	0.403000													7	38					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298439	36298439	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36298439G>A	ENST00000437635.2	-	2	206	c.29C>T	c.(28-30)cCc>cTc	p.P10L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	10										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCCGCCAGGGGCCTCCTTGG	0.557000													24	92					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113049	59113049	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:59113049C>T	ENST00000395153.3	+	4	1744	c.1597C>T	c.(1597-1599)Cac>Tac	p.H533Y	DACT1_ENST00000556859.1_Missense_Mutation_p.H289Y|DACT1_ENST00000541264.2_Missense_Mutation_p.H289Y|DACT1_ENST00000395151.3_Missense_Mutation_p.H289Y|DACT1_ENST00000335867.4_Missense_Mutation_p.H570Y	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	570					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTCAGGCTCCACCGGGGCCA	0.647000													7	19					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136857249	136857249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136857249G>A	ENST00000371851.1	-	1	477	c.152C>T	c.(151-153)tCc>tTc	p.S51F	VAV2_ENST00000406606.3_Missense_Mutation_p.S51F|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.S51F			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	51	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAGCCGGGGGAGAGGTTGTG	0.726000													10	19					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586509	20586509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:20586509C>T	ENST00000315543.4	+	1	944	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P315Q(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTTGAATCCAATTATCTAT	0.348000													7	11					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511543	242511543	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:242511543G>A	ENST00000427495.1	-	2	130	c.3_splice	c.e2-1	p.S2_splice	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000536534.1_Splice_Site_p.S64_splice	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	64						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTTCTGCTGGGACTGAAAGAG	0.458000													28	9					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118474166	118474166	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:118474166G>A	ENST00000315436.3	-	6	951	c.810C>T	c.(808-810)acC>acT	p.T270T	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Silent_p.T287T|WSB2_ENST00000542304.1_Silent_p.T45T|WSB2_ENST00000535496.1_Silent_p.T272T|WSB2_ENST00000544233.1_Silent_p.T60T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	270					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTTTCGCCGGTGTAGGGGT	0.517000													4	163					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449477	104449477	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104449477G>A	ENST00000361820.3	-	2	1305	c.705C>T	c.(703-705)ccC>ccT	p.P235P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	235					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTAGGTGAAGGGGATTCTGTA	0.348000													16	46					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38338860	38338860	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:38338860C>T	ENST00000322350.5	+	3	614	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	EGFLAM_ENST00000354891.3_Missense_Mutation_p.L90F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	90	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGCGTGCCTCTCAGCCGGGA	0.557000													7	27					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25434598	25434598	+	RNA	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:25434598G>T	ENST00000424208.1	+	0	937				SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CCTGAAGAGAGGTGATGACTT	0.527000													53	290					4.96213e-28	5.07079e-28	1	1	0
OSBPL10	114884	broad.mit.edu	37	3	31871659	31871659	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:31871659G>A	ENST00000396556.2	-	4	724	c.602C>T	c.(601-603)tCt>tTt	p.S201F	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	201					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCTACAGGGAGACGCAGAATT	0.547000													13	35					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888595	159888595	+	Missense_Mutation	SNP	G	G	A	rs11556957		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159888595G>A	ENST00000368097.4	-	5	905	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	TAGLN2_ENST00000368096.1_Missense_Mutation_p.L220F|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.L199F	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	199					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGATCAGAGGATCTGGCGT	0.562000													36	81					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172341787	172341787	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:172341787C>T	ENST00000326654.2	+	3	401	c.186C>T	c.(184-186)atC>atT	p.I62I	ERGIC1_ENST00000393784.3_Silent_p.I107I|ERGIC1_ENST00000523291.1_Silent_p.I107I			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	107					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCATGAAGATCCCGCTGAACA	0.572000													15	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417578	179417578	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179417578C>T	ENST00000589042.1	-	335	90273	c.90049G>A	c.(90049-90051)Gaa>Aaa	p.E30017K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27449K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28376K|TTN_ENST00000359218.5_Missense_Mutation_p.E21077K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20952K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21144K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28376	Ig-like 136.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACAGGGTTCCCCAATTCCA	0.428000													20	8					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58499640	58499640	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:58499640G>A	ENST00000341164.4	-	6	955	c.335C>T	c.(334-336)tCc>tTc	p.S112F	ZNF606_ENST00000536132.1_Missense_Mutation_p.S22F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCCAACAGGGAGATGACCTC	0.527000													6	21					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167179	81167179	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:81167179C>T	ENST00000525539.1	-	0	5845				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGATTTCTCTGATGAGGGC	0.522000													3	19					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156924024	156924024	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156924024G>A	ENST00000257527.4	-	14	1550	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	ADAM19_ENST00000394020.1_Missense_Mutation_p.S493F|ADAM19_ENST00000517905.1_Missense_Mutation_p.S491F|ADAM19_ENST00000430702.2_Missense_Mutation_p.S224F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	491	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGTGGGGAGACTTGCCCGT	0.612000													5	20					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58475311	58475311	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:58475311G>A	ENST00000357552.3	-	18	1511	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	SYCP2_ENST00000371001.2_Missense_Mutation_p.P429L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	429					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCTCCGACTGGTGAGATTTG	0.343000													8	20					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590190	156590190	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156590190C>T	ENST00000302938.4	-	2	1181	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	362						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACTGGCGGCCCCCGCCATCG	0.577000													7	30					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264914	142264914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:142264914G>A	ENST00000378004.3	+	5	791	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E146K	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	146					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCATCTTAGAAAAACACTT	0.338000													12	34					0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132510994	132510994	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:132510994G>A	ENST00000340607.4	-	2	183	c.149C>T	c.(148-150)gCc>gTc	p.A50V	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	50					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTGTCTCAGGGCATCCTCGGG	0.602000													12	25					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55970916	55970916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:55970916C>T	ENST00000263923.4	-	13	2176	c.1881G>A	c.(1879-1881)atG>atA	p.M627I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	627	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTAAGCTCCATGATCAAAA	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	20					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94712050	94712050	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:94712050C>T	ENST00000371552.4	+	15	1451	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	EXOC6_ENST00000260762.6_Silent_p.F479F|EXOC6_ENST00000371547.4_Silent_p.F495F|EXOC6_ENST00000443748.2_Silent_p.F376F	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	479					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CAAAGAAATTCCCCATGTCTC	0.303000													5	38					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189945763	189945763	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:189945763G>A	ENST00000374866.3	-	13	1133	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	287					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGAAATCCACGAGCTCCCTGG	0.408000													24	17					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4703923	4703923	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:4703923G>T	ENST00000354582.6	+	15	1759	c.1409G>T	c.(1408-1410)aGg>aTg	p.R470M	ITPR1_ENST00000456211.2_Missense_Mutation_p.R455M|ITPR1_ENST00000423119.2_Missense_Mutation_p.R470M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R455M|ITPR1_ENST00000357086.4_Missense_Mutation_p.R470M|ITPR1_ENST00000443694.2_Missense_Mutation_p.R455M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	470					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGAATGAAAGGAGGTGAGCA	0.567000													10	10					7.48243e-07	7.54229e-07	1	1	0
PSG2	5670	broad.mit.edu	37	19	43579626	43579626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43579626C>T	ENST00000406487.1	-	3	687	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	197	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTGA	0.498000													79	169					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710272	117710272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:117710272G>A	ENST00000317775.6	-	10	2442	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	NOS1_ENST00000338101.4_Missense_Mutation_p.A586V|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	586					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAAGGGACAGGCGCTGAACTC	0.592000													17	54					0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40544245	40544245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40544245G>A	ENST00000433473.3	-	7	1177	c.713C>T	c.(712-714)cCt>cTt	p.P238L	PPT1_ENST00000530076.1_Missense_Mutation_p.P19L|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Missense_Mutation_p.P135L	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	238					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAATCTACAGGGTCCACAAT	0.478000													66	50					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49935604	49935604	+	Silent	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:49935604T>G	ENST00000251250.6	+	6	951	c.744T>G	c.(742-744)ctT>ctG	p.L248L	DTWD1_ENST00000415425.1_Silent_p.L161L|DTWD1_ENST00000558653.1_Silent_p.L248L|DTWD1_ENST00000403028.3_Silent_p.L248L	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	248										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATACTTTCCTTTCTACAATTG	0.303000													33	45					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371741	139371741	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139371741G>A	ENST00000313050.7	-	1	400	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2079					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCCAGGCAGGGGCTCACAGG	0.592000													22	72					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34003125	34003125	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:34003125G>A	ENST00000373381.4	-	61	9892	c.9716C>T	c.(9715-9717)tCc>tTc	p.S3239F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3216	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGATGGCAGGAGAAGGAGAC	0.617000													24	78					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428054	6428054	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6428054C>T	ENST00000536531.1	+	12	1598	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	PLEKHG6_ENST00000449001.2_Intron|PLEKHG6_ENST00000396988.3_Intron|PLEKHG6_ENST00000011684.7_Intron			Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	473	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GTACGTCCTTCCTTCAGGGAG	0.582000													8	27					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922455	24922455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922455G>A	ENST00000329468.2	+	1	1915	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TAATGAGAAAGGAGGCTCTTA	0.498000													33	227					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713022	32713022	+	Missense_Mutation	SNP	G	G	A	rs52830651		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32713022G>A	ENST00000374940.3	+	2	271	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	57	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGAGACGAGGAGTTCTATGT	0.488000													20	99					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272490	2272490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:2272490G>A	ENST00000290974.2	-	13	2965	c.2626C>T	c.(2626-2628)Cat>Tat	p.H876Y	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.H806Y|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.H181Y|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.H846Y	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	876					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCGTGACATGGAACATGTAG	0.667000													13	65					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78936356	78936356	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78936356C>T	ENST00000306801.3	+	32	4150	c.3788C>T	c.(3787-3789)cCc>cTc	p.P1263L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P1105L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1263					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GACATCCACCCCCAGGCGGAC	0.632000													32	62					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131522018	131522018	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:131522018G>A	ENST00000423981.1	+	2	2483	c.2373G>A	c.(2371-2373)ctG>ctA	p.L791L	AMER3_ENST00000321420.4_Silent_p.L791L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCAGCCAGCTGGACTCTGAGC	0.677000													3	5					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904960	55904960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55904960G>A	ENST00000301529.1	-	1	234	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCATTTTAGGGGCAATGACA	0.418000													41	66					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123628356	123628356	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:123628356G>A	ENST00000373896.3	-	8	981	c.729C>T	c.(727-729)tgC>tgT	p.C243C	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Silent_p.C34C	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACACACGGAGCAGAAGAACA	0.617000													14	44					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140559171C>T	ENST00000239444.2	+	1	1801	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.687000													28	242					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85742573	85742573	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:85742573A>G	ENST00000322366.6	-	11	1662	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	WDFY3_ENST00000295888.4_Missense_Mutation_p.F419L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	419						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTAGGATGAAGTAATTGGCA	0.373000													23	69					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826246	48826246	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:48826246C>T	ENST00000218176.3	-	1	1730	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	145						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GCCAGGCGCTCGGCATTCTCC	0.657000													6	18					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39390658	39390658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:39390658G>A	ENST00000320816.6	-	5	817	c.350C>T	c.(349-351)cCa>cTa	p.P117L	DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.P117L|DAB2_ENST00000545653.1_Missense_Mutation_p.P117L|DAB2_ENST00000339788.6_Missense_Mutation_p.P117L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	117	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTTATTTACTGGATGTTCATG	0.388000													4	36					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169105801	169105801	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:169105801G>A	ENST00000359299.3	+	11	1061	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	292							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TACAAAGAGCGATATGGAAAA	0.353000													25	72					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149417945	149417945	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149417945C>T	ENST00000255992.10	+	4	573	c.174C>T	c.(172-174)agC>agT	p.S58S	KRBA1_ENST00000485033.2_Silent_p.S58S|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.S58S	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	58										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCACAGCCTGCACCTCA	0.647000													3	9					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317614	103317614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:103317614A>T	ENST00000233969.2	+	8	1814	c.1672A>T	c.(1672-1674)Aag>Tag	p.K558*	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	558						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTATATAAAAAGCTTGAAAT	0.328000													6	18					0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600845	48600845	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:48600845C>G	ENST00000244050.2	+	2	628	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	189					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGAAGGCCTTCTCTAGGCCCT	0.607000													5	11					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754407	49754407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:49754407G>A	ENST00000304801.3	-	1	646	c.494C>T	c.(493-495)gCt>gTt	p.A165V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	165					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTGCCAAAAGCATCATTGAC	0.468000													18	58					0	0	1	0	0
TRAPPC2B	10597	broad.mit.edu	37	19	57876316	57876316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57876316C>T	ENST00000596755.1	+	1	1382	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	TRAPPC2P1_ENST00000543226.1_Nonsense_Mutation_p.Q39*|ZNF547_ENST00000282282.3_Intron|AC003002.4_ENST00000597658.1_Intron																kidney(1)|lung(2)	3						TCATCTGAACCAGTTCATAGC	0.438000													4	10					0	0	1	0	0
SEC1P	653677	broad.mit.edu	37	19	49183487	49183487	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:49183487G>A	ENST00000430145.2	+	0	574					NR_004401.2																						GCCGCCTGGGGAACCAGATGG	0.677000													3	9					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649949	57649949	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57649949C>T	ENST00000269834.1	-	3	418	c.33G>A	c.(31-33)gaG>gaA	p.E11E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGACATCCTCGAAGGTCA	0.483000													24	34					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186570649	186570649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:186570649G>A	ENST00000431808.1	-	10	1104	c.541C>T	c.(541-543)Cga>Tga	p.R181*	SORBS2_ENST00000355634.5_Nonsense_Mutation_p.R281*|SORBS2_ENST00000393528.3_Nonsense_Mutation_p.R227*|SORBS2_ENST00000449407.2_Nonsense_Mutation_p.R252*|SORBS2_ENST00000319471.9_Nonsense_Mutation_p.R267*|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.R181*|SORBS2_ENST00000437304.2_Nonsense_Mutation_p.R360*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.R85*|SORBS2_ENST00000448662.2_Nonsense_Mutation_p.R250*			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	181	Pro-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCTCTTGGTCGAAGCGGCGGG	0.517000													3	19					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770903	94770903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:94770903C>T	ENST00000341584.3	-	5	1216	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	357					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGTGTCCACACCCTCCTCATT	0.517000													17	10					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24919696	24919696	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:24919696C>T	ENST00000413389.2	+	9	2415	c.822C>T	c.(820-822)ctC>ctT	p.L274L	UPB1_ENST00000326010.5_Silent_p.L342L|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	342	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTGCTAAGCTCGACCTAAACC	0.572000													19	69					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48064312	48064312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:48064312C>T	ENST00000397637.1	+	4	1193	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PRMT2_ENST00000355680.3_Missense_Mutation_p.P80L|PRMT2_ENST00000291705.6_Missense_Mutation_p.P80L|PRMT2_ENST00000451211.2_Missense_Mutation_p.P80L|PRMT2_ENST00000334494.4_Missense_Mutation_p.P80L|PRMT2_ENST00000397628.1_Missense_Mutation_p.P80L|PRMT2_ENST00000440086.1_Missense_Mutation_p.P80L|PRMT2_ENST00000397638.2_Missense_Mutation_p.P80L|PRMT2_ENST00000458387.2_Missense_Mutation_p.P80L			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	80	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GGGTACATTCCGGCAAACCAT	0.517000													14	74					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929481	4929481	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4929481G>A	ENST00000359350.4	+	1	882	c.882G>A	c.(880-882)aaG>aaA	p.K294K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTGTAAAGACTCGACAAA	0.408000													31	41					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	822691	822691	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:822691C>T	ENST00000293892.3	-	12	2415	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	MSLNL_ENST00000442466.1_Missense_Mutation_p.E455K			Q96KJ4	MSLNL_HUMAN	mesothelin-like	455					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CACCGGAGCTCCTGGGGATGG	0.667000													5	3					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69079845	69079845	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:69079845C>T	ENST00000465139.2	-	3	377	c.234G>A	c.(232-234)ggG>ggA	p.G78G	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Silent_p.G78G	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	78					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCCAGGCCCCCTGAGACTC	0.453000													38	45					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935963	30935963	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:30935963G>A	ENST00000355537.3	+	2	1641	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCGCCGCTGAAATCCAGCT	0.667000													27	45					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48829839	48829839	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:48829839G>A	ENST00000316623.5	-	7	1160	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	235	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATTTGGAATGAAGCCACGGC	0.537000													17	103					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200528536	200528536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:200528536C>T	ENST00000367350.4	-	27	4713	c.4275G>A	c.(4273-4275)atG>atA	p.M1425I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1425	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATAAAATCTTCATTCCTAAGC	0.299000													27	43					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349303	30349303	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:30349303T>C	ENST00000327564.7	+	1	1280	c.1219T>C	c.(1219-1221)Tct>Cct	p.S407P	LRRC37B_ENST00000543378.2_Missense_Mutation_p.S298P|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S392P|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S380P|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S380P			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	380						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGCGGAACCTTCTTCTACAGC	0.537000													25	84					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43548796	43548796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:43548796C>T	ENST00000220420.5	-	4	532	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.W93*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	175					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATGGGCGGATCCAGTTCTTGC	0.557000													43	218					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122404	12122404	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:12122404C>T	ENST00000379388.2	+	4	2708	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	792					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGATTCTTTCCAGTTTGATT	0.418000													12	77					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828438	32828438	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:32828438G>A	ENST00000397452.1	-	11	1181	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	BPIFC_ENST00000300399.3_Silent_p.T357T|BPIFC_ENST00000534972.1_Silent_p.T81T|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	357						extracellular region	lipopolysaccharide binding|phospholipid binding										GGATGTCCAGGGTGAAATTGC	0.512000													13	52					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	155490	155490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:155490G>A	ENST00000283426.6	+	7	1122	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	358					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAACTGTGAAGAAGCCATCAT	0.458000													17	69					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120394643	120394643	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:120394643C>T	ENST00000283871.5	-	2	542	c.83G>A	c.(82-84)gGa>gAa	p.G28E	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	28					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCATACCTGTCCTTCTGGCAG	0.483000													15	47					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:55714592C>T	ENST00000379668.2	+	1	247	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378000													14	28					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77623762	77623762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:77623762G>A	ENST00000461745.1	+	14	2984	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R695Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R711Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	695	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R695Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCGACTGAACGAAGTGCTGTC	0.443000													22	32					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3681621	3681621	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:3681621G>A	ENST00000404826.2	+	4	736	c.597G>A	c.(595-597)agG>agA	p.R199R	SDK1_ENST00000389531.3_Silent_p.R199R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	199	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGACCAGAGGAAAACAGTTT	0.468000													14	38					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008671	86008671	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:86008671C>T	ENST00000359452.4	+	3	280	c.242C>T	c.(241-243)tCc>tTc	p.S81F	RGR_ENST00000372092.3_Silent_p.L64L|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	79					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCCAGTGTCTCCCACAGGCGC	0.617000													14	39					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55191864	55191864	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:55191864C>T	ENST00000337714.3	+	6	2381	c.2148C>T	c.(2146-2148)aaC>aaT	p.N716N	AKAP1_ENST00000572557.1_Silent_p.N716N|AKAP1_ENST00000539273.1_Silent_p.N716N|AKAP1_ENST00000571629.1_Silent_p.N716N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	716					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)					TTGTGGTCAACCAGGTCAATG	0.562000											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	54					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060805	44060805	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:44060805C>T	ENST00000344290.5	+	6	957	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P212L|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	212					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AAAGAGAGGCCGGGGAGCAAG	0.692000													11	32					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275257	29275257	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29275257C>T	ENST00000377160.2	+	1	855	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CCTTCTGATTCCTCATCGACT	0.468000													54	94					0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6570038	6570038	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6570038G>A	ENST00000266556.7	+	6	1390	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	409					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						AACAGCCTTGGGAGTCATCTT	0.602000													20	45					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582010	55582010	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:55582010G>A	ENST00000361849.3	-	34	5876	c.5482C>T	c.(5482-5484)Cct>Tct	p.P1828S	PCDH15_ENST00000395432.2_Missense_Mutation_p.P1786S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1803S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1757S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1823S|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1826S	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1826	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggagggcaaggaatagaagga	0.473000										HNSCC(58;0.16)			17	30					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39135169	39135169	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39135169G>A	ENST00000377755.4	-	6	1117	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	KRT40_ENST00000398486.2_Silent_p.I361I			Q6A162	K1C40_HUMAN	keratin 40	361	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGTCGCAGCGGATCTCGGCCA	0.607000													61	95					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276733	16276733	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:16276733C>T	ENST00000205557.7	-	16	2027	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	666	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACTTCCCTGCCCCCACTGGAC	0.627000													6	90					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307319	54307319	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54307319C>T	ENST00000545554.1	+	1	2219	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	UNC13C_ENST00000537900.1_Missense_Mutation_p.S740F|UNC13C_ENST00000260323.11_Missense_Mutation_p.S740F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	740					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAATATGATTCTTATCAGGGA	0.413000													3	15					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265765	62265765	+	Silent	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62265765A>C	ENST00000258991.3	-	5	2292	c.2208T>G	c.(2206-2208)ccT>ccG	p.P736P	TEX2_ENST00000583097.1_Silent_p.P729P|TEX2_ENST00000584379.1_Silent_p.P729P			Q8IWB9	TEX2_HUMAN	testis expressed 2	729					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGCTGTGTGCAGGCAAAAGCC	0.537000													20	66					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996075	43996075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43996075G>A	ENST00000262726.7	-	23	3003	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S765L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	917	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GACAGCAGGCGAATAGTTAAT	0.428000													49	313					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205082	151205082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151205082C>T	ENST00000409426.1	+	6	951	c.506C>T	c.(505-507)tCc>tTc	p.S169F	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S169F|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S181F|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S168F			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	181	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTAGTGGTTCCCTATTCTAT	0.463000													4	37					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171716373	171716373	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:171716373G>A	ENST00000358196.3	+	17	2316	c.1766G>A	c.(1765-1767)aGa>aAa	p.R589K		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	589					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGATAGAAAGACTGGGCCAG	0.498000													6	15					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189408	29189408	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:29189408C>T	ENST00000234961.2	+	3	974	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	244					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GCAGTGTGCGCCTGCTGTCGG	0.647000													15	40					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1189707	1189707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:1189707G>A	ENST00000446702.2	+	2	642	c.15G>A	c.(13-15)tgG>tgA	p.W5*	CNTN6_ENST00000539053.1_Intron|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.W5*			Q9UQ52	CNTN6_HUMAN	contactin 6	5					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTTGCTATGGAAACTGGTAA	0.348000													24	65					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70943901	70943901	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:70943901G>A	ENST00000542342.2	-	5	508	c.420C>T	c.(418-420)tcC>tcT	p.S140S	SLC39A11_ENST00000579732.1_Silent_p.S140S|SLC39A11_ENST00000255559.3_Silent_p.S140S	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	140					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTATCCGGATGGAAAGTTCAC	0.552000													42	141					0	0	1	0	0
CCL18	6362	broad.mit.edu	37	17	34397833	34397833	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:34397833C>T	ENST00000004921.3	+	2	157	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	32					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTCTGCTGCCTCGTCTATAC	0.507000													9	14					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802121	67802121	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:67802121A>T	ENST00000544246.1	-	2	1143	c.452T>A	c.(451-453)aTt>aAt	p.I151N	PCDH9_ENST00000377865.2_Missense_Mutation_p.I151N|PCDH9_ENST00000377861.3_Missense_Mutation_p.I151N|PCDH9_ENST00000328454.5_Missense_Mutation_p.I151N|PCDH9_ENST00000456367.1_Missense_Mutation_p.I151N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	151	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTTTCTGGAATGGAAATATT	0.393000													33	60					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637290	248637290	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248637290C>T	ENST00000359594.2	+	1	664	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGCTTCTCGCCCCCATCA	0.552000													100	27					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169835	49169835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49169835G>A	ENST00000307885.4	-	8	2411	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	ADCY6_ENST00000357869.3_Missense_Mutation_p.R573W|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R573W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	573					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGTTGGCCCGAGTCCGCTGC	0.652000													5	17					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262928	121262928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121262928G>A	ENST00000297848.3	+	22	2945	c.2675G>A	c.(2674-2676)gGa>gAa	p.G892E	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.G797E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G892E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	892	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCCTCAGCGGAATGGACTAC	0.468000													11	36					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42399518	42399518	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42399518C>T	ENST00000599846.1	+	12	1099	c.974C>T	c.(973-975)tCt>tTt	p.S325F	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.S307F|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.S340F|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.S292F|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.S325F			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	325					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGGAGTCTCTCTGCACCCT	0.677000													29	66					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65892171	65892171	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:65892171G>A	ENST00000395644.4	-	4	762	c.427C>T	c.(427-429)Cca>Tca	p.P143S	VWA9_ENST00000567744.1_Missense_Mutation_p.P179S|VWA9_ENST00000569491.1_Missense_Mutation_p.P94S|VWA9_ENST00000431261.2_Missense_Mutation_p.P64S|VWA9_ENST00000420799.2_Missense_Mutation_p.P86S|VWA9_ENST00000442903.3_Missense_Mutation_p.P107S|VWA9_ENST00000313182.2_Missense_Mutation_p.P143S					von Willebrand factor A domain containing 9																		AAAGGTAGTGGAAACCTGTTG	0.433000													11	49					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108768474	108768474	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:108768474C>T	ENST00000368977.4	+	8	1051	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	289							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAGGGAACTTCCTGCTGCAGG	0.328000													14	11					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362124	99362124	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:99362124T>A	ENST00000376503.5	-	12	997	c.942A>T	c.(940-942)aaA>aaT	p.K314N		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	314					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AACTTACGATTTTCCCGGACA	0.378000													20	20					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728902	15728902	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15728902C>T	ENST00000441682.2	+	0	354							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCATCACTCCCATCATCAAC	0.587000													25	51					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203311547	203311547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:203311547C>T	ENST00000354955.4	-	3	1518	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	352					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCTCGTTCCCGTCCAGGCG	0.647000											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	37					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77073515	77073515	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:77073515C>T	ENST00000579016.1	+	2	150	c.150C>T	c.(148-150)atC>atT	p.I50I	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	50						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCTTAGCATCAAAGATGAAG	0.423000													8	42					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111380	57111380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:57111380G>A	ENST00000454682.1	-	3	4215	c.3934C>T	c.(3934-3936)Cct>Tct	p.P1312S	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGCTGGAGGAGTGGGGGCC	0.647000			T	BCL6	NHL								13	67					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393604	145393604	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:145393604C>T	ENST00000511217.1	+	4	1091	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P347S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	347							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGACGTTCCTTCCAGCTG	0.527000													18	55					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61945215	61945215	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:61945215C>T	ENST00000422202.1	+	17	2419	c.2351C>T	c.(2350-2352)cCc>cTc	p.P784L	COL20A1_ENST00000326996.6_Missense_Mutation_p.P777L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P784L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P777L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	777	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCTACGCCCCCGCCTCTGGC	0.677000													12	2					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315735	50315735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:50315735C>T	ENST00000332853.3	-	2	384	c.361G>A	c.(361-363)Gat>Aat	p.D121N	VSTM4_ENST00000298454.3_Missense_Mutation_p.D121N	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	121	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGCCCTTGATCGGAGGGCTGC	0.617000													39	52					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41106185	41106185	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:41106185C>T	ENST00000355341.4	+	10	1755	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	ZFYVE19_ENST00000299173.10_Silent_p.L350L|ZFYVE19_ENST00000564258.1_Silent_p.L243L|ZFYVE19_ENST00000336455.5_Silent_p.L408L|ZFYVE19_ENST00000570108.1_Silent_p.L395L	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	418							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AAGAGGAGCTCCCCTGGTGCT	0.612000													25	96					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312843	52312843	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52312843G>A	ENST00000550683.1	+	8	1464	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	ACVRL1_ENST00000419526.2_Missense_Mutation_p.V267M|ACVRL1_ENST00000388922.4_Missense_Mutation_p.V441M	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	441	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATGAAGAAGGTGGTGTGTGT	0.577000													18	61					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25603032	25603032	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25603032C>T	ENST00000215855.2	+	6	569	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	163	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GCTATGAGTTCCCCGGCTACC	0.642000													13	77					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25243716	25243716	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25243716G>A	ENST00000400358.4	+	4	312	c.255G>A	c.(253-255)gaG>gaA	p.E85E	SGSM1_ENST00000400359.4_Silent_p.E85E	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	85	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCCGGCTGAGGATCTGAGCC	0.612000													7	23					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3529891	3529891	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:3529891C>T	ENST00000262919.5	+	6	1086	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	ATRN_ENST00000446916.2_Missense_Mutation_p.P340S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	340					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTAAAGCTCCCCAGAGCATC	0.388000													18	53					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117104348	117104348	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:117104348G>A	ENST00000307564.4	-	20	3976	c.3815C>T	c.(3814-3816)cCc>cTc	p.P1272L	AKNA_ENST00000374075.5_Missense_Mutation_p.P1191L|AKNA_ENST00000374088.3_Missense_Mutation_p.P1272L|AKNA_ENST00000223791.3_Missense_Mutation_p.P732L|AKNA_ENST00000374079.4_Missense_Mutation_p.P217L|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ACCACACAGGGGACACTGAAG	0.562000													9	24					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846162	47846162	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:47846162G>A	ENST00000339488.4	-	3	2451	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	806						integral to membrane	hedgehog receptor activity										AAAACGTTAGGAACACAGGTA	0.433000													18	57					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119352	68119352	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:68119352C>T	ENST00000380035.2	+	2	1244	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	SKOR1_ENST00000554240.1_Missense_Mutation_p.P357S|SKOR1_ENST00000389002.1_Missense_Mutation_p.P352S|SKOR1_ENST00000554054.1_Missense_Mutation_p.P368S|SKOR1_ENST00000341418.5_Missense_Mutation_p.P503S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	396					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TTTCCCCCATCCTTACGGCTT	0.672000													6	22					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377379	77377379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:77377379G>A	ENST00000451710.3	-	26	4445	c.4208C>T	c.(4207-4209)cCc>cTc	p.P1403L	TRPM6_ENST00000449912.2_Missense_Mutation_p.P1398L|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1403L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1398L|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1403L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1403					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTTCCTTGGGTTCATCCAC	0.512000													23	38					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46398649	46398649	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:46398649C>T	ENST00000454345.1	+	26	2918	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	DGKZ_ENST00000395574.3_Silent_p.I709I|DGKZ_ENST00000532868.2_Silent_p.I747I|DGKZ_ENST00000421244.2_Silent_p.I743I|DGKZ_ENST00000456247.2_Silent_p.I742I|DGKZ_ENST00000528615.1_Silent_p.I521I|DGKZ_ENST00000318201.8_Silent_p.I720I|DGKZ_ENST00000527911.1_Silent_p.I743I|DGKZ_ENST00000543978.1_Silent_p.I95I|DGKZ_ENST00000343674.6_Silent_p.I759I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	931					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGACTGAGATCGCACAGGATG	0.652000													7	34					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222858	72222858	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:72222858G>A	ENST00000340595.3	+	3	748	c.552G>A	c.(550-552)ggG>ggA	p.G184G	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.G228G|SLC4A4_ENST00000351898.6_Silent_p.G228G|SLC4A4_ENST00000425175.1_Silent_p.G228G|SLC4A4_ENST00000512686.1_Silent_p.G184G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	228						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGACATTGGGAAGACAGTCT	0.463000													24	71					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38530661	38530661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:38530661G>A	ENST00000356264.2	-	5	600	c.385C>T	c.(385-387)Cct>Tct	p.P129S	AMPH_ENST00000428293.2_Missense_Mutation_p.P129S|AMPH_ENST00000325590.5_Missense_Mutation_p.P129S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	129	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P129S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTATGTCAGGAAATTGCCCC	0.398000													27	147					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768518	117768518	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:117768518G>A	ENST00000317775.6	-	2	1042	c.357C>T	c.(355-357)acC>acT	p.T119T	NOS1_ENST00000338101.4_Silent_p.T119T|NOS1_ENST00000344089.3_Silent_p.T119T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	119	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACCCGGATGGTCTTGGGGG	0.637000													15	39					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402577	136402577	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136402577C>A	ENST00000393061.3	+	3	900	c.468C>A	c.(466-468)gcC>gcA	p.A156A	ADAMTSL2_ENST00000354484.4_Silent_p.A47A|ADAMTSL2_ENST00000393060.1_Silent_p.A47A			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	47					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ACGCCACGGCCTTCTGGTGGG	0.667000													29	66					1.99505e-19	2.03544e-19	1	1	0
RELN	5649	broad.mit.edu	37	7	103629587	103629587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:103629587C>T	ENST00000424685.2	-	1	376	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RELN_ENST00000343529.5_Missense_Mutation_p.E73K|RELN_ENST00000428762.1_Missense_Mutation_p.E73K			P78509	RELN_HUMAN	reelin	73	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCATGGTATTCTTGTCCCGGA	0.647000													10	60					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71465272	71465272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71465272G>A	ENST00000322937.6	+	5	306	c.203G>A	c.(202-204)gGa>gAa	p.G68E	AMBN_ENST00000449493.2_Missense_Mutation_p.G68E	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	68					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TACGGCTTTGGAAAATCATTT	0.353000													20	22					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109399281	109399281	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:109399281C>T	ENST00000283195.6	+	28	9458	c.9332C>T	c.(9331-9333)tCc>tTc	p.S3111F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3111	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCAAGAATTCCATTTTTCAC	0.393000													40	33					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286048	79286048	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:79286048C>A	ENST00000442340.1	+	9	1131	c.641C>A	c.(640-642)cCt>cAt	p.P214H	TBX22_ENST00000373296.3_Missense_Mutation_p.P334H|TBX22_ENST00000373291.1_Missense_Mutation_p.P214H|TBX22_ENST00000373294.5_Missense_Mutation_p.P334H	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	334			L -> P (in CPX).		multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCCCCCTCTCCTTTGAACTCC	0.468000													23	11					6.21321e-17	6.3313e-17	1	1	0
NCF2	4688	broad.mit.edu	37	1	183559354	183559354	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:183559354G>A	ENST00000413720.1	-	1	385	c.111C>T	c.(109-111)tcC>tcT	p.S37S	NCF2_ENST00000418089.1_Silent_p.S37S|NCF2_ENST00000367535.3_Silent_p.S37S|NCF2_ENST00000367536.1_Silent_p.S37S	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	37					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGCAAATCCGGGAGTGGGGGT	0.577000													105	136					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564373	139564373	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:139564373C>T	ENST00000358430.3	-	10	1577	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	449						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTCTCTCTTCTTGTAAAGCA	0.433000													9	14					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129284	52129284	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:52129284C>T	ENST00000222107.4	-	8	1603		c.e8+1		SIGLEC5_ENST00000570106.2_Splice_Site|SIGLEC5_ENST00000534261.2_Splice_Site|SIGLEC5_ENST00000429354.3_Splice_Site|SIGLEC5_ENST00000599649.1_Splice_Site			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5						cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AAACCACTCACCGAGGTGATG	0.527000													12	17					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124807214	124807214	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:124807214C>T	ENST00000423114.2	-	13	2008	c.2008_splice	c.e13-1	p.G670_splice	SLC12A8_ENST00000469902.1_Splice_Site_p.G641_splice|SLC12A8_ENST00000430155.2_Splice_Site_p.G442_splice|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G641_splice			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	641					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGAGGCTGATCCTGCAGGGAA	0.463000													5	28					0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90988067	90988067	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:90988067G>A	ENST00000336233.5	-	4	640	c.318C>T	c.(316-318)ttC>ttT	p.F106F	LIPA_ENST00000371837.1_Silent_p.F50F|LIPA_ENST00000456827.1_Silent_p.F106F			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	106					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CAGCAAGAATGAAGCCCAGGC	0.473000													17	68					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95394563	95394563	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:95394563C>T	ENST00000371447.3	+	9	1306	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	390	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGTTTTGTCCCTGCCTATTGT	0.383000													6	31					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167986	161167986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161167986C>T	ENST00000367996.4	-	1	860	c.432G>A	c.(430-432)tgG>tgA	p.W144*	ADAMTS4_ENST00000367995.3_Nonsense_Mutation_p.W144*	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	144					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCCCCCATCCCAGTGCAGAG	0.647000													32	64					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697867	17697867	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:17697867C>T	ENST00000353383.1	+	3	2074	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	RAI1_ENST00000261641.6_Silent_p.A535A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	535						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAACCAGGCCCGTGGCAGCC	0.642000													15	12					0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208748	67208748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:67208748G>A	ENST00000432069.2	+	5	1092	c.520G>A	c.(520-522)Gag>Aag	p.E174K	NOL3_ENST00000564053.1_Missense_Mutation_p.E236K|NOL3_ENST00000568146.1_Silent_p.Q170Q|NOL3_ENST00000268605.7_Missense_Mutation_p.E174K	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	0					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		gccagagccagagctggaacc	0.662000													12	6					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62422069	62422069	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:62422069G>A	ENST00000245663.4	-	2	192	c.42C>T	c.(40-42)taC>taT	p.Y14Y	ZBTB46_ENST00000395104.1_Silent_p.Y14Y|ZBTB46_ENST00000302995.2_Silent_p.Y14Y	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCAGGTGCCGGTAGTGGGACG	0.567000													12	21					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399797	89399797	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:89399797C>T	ENST00000479981.1	-	0	57																											AGCAGGAGCCCCAGGAGCTGA	0.522000													13	31					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193177001	193177001	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:193177001A>G	ENST00000342695.4	-	14	1865	c.1543T>C	c.(1543-1545)Ttt>Ctt	p.F515L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F496L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.F515L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	515					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.F515L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTGAGGCAAAGCTGTGAACT	0.517000													12	39					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229903	140229903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140229903C>T	ENST00000378122.3	+	1	2547	c.1823C>T	c.(1822-1824)tCa>tTa	p.S608L	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S608L|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCATACGAGCTG	0.677000													19	86					0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15067977	15067977	+	Silent	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:15067977A>T	ENST00000538197.1	+	12	3078	c.3078A>T	c.(3076-3078)ccA>ccT	p.P1026P	RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Silent_p.P999P|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Silent_p.P554P|CPEB2_ENST00000541112.1_Silent_p.P1018P|CPEB2_ENST00000507071.1_Silent_p.P581P|CPEB2_ENST00000259997.5_Silent_p.P589P|CPEB2_ENST00000382395.3_Silent_p.P559P|CPEB2_ENST00000345451.3_Silent_p.P551P	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	581					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CTGATCGCCCACGTCAGATCC	0.473000													8	6					0	0	1	0	0
IZUMO4	113177	broad.mit.edu	37	19	2097455	2097455	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:2097455C>T	ENST00000395307.2	+	3	896	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	IZUMO4_ENST00000588003.1_3'UTR|IZUMO4_ENST00000395301.3_Missense_Mutation_p.R111W|IZUMO4_ENST00000395296.1_Missense_Mutation_p.R111W	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	111						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						AAACATCTTCCGGGAGCAGGT	0.637000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590153	103590153	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:103590153G>A	ENST00000226578.4	-	10	1383	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	MANBA_ENST00000505239.1_Silent_p.F371F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	428					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CTGAATCCAGGAAGCCCTGAT	0.363000													4	7					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253976	47253976	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:47253976G>A	ENST00000296861.2	-	2	845	c.452C>T	c.(451-453)cCt>cTt	p.P151L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	151					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAACCCACAGGACACACCGT	0.542000													29	103					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978594	39978594	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39978594G>A	ENST00000321562.4	+	10	1787	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	FKBP10_ENST00000544340.1_Silent_p.K334K	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	561	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGACGGCAAGATCACAGTCG	0.597000													19	17					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483998	137483998	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:137483998A>C	ENST00000306087.1	+	1	420	c.372A>C	c.(370-372)aaA>aaC	p.K124N		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	124					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CGCCCGAGAAAGCCCGGGCCT	0.706000													8	28					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82445571	82445571	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:82445571G>A	ENST00000370728.1	+	20	3673	c.3028G>A	c.(3028-3030)Gtg>Atg	p.V1010M	LPHN2_ENST00000370730.1_Missense_Mutation_p.V1010M|LPHN2_ENST00000319517.6_Missense_Mutation_p.V997M|LPHN2_ENST00000359929.3_Missense_Mutation_p.V997M|LPHN2_ENST00000370715.1_Missense_Mutation_p.V997M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.V997M|LPHN2_ENST00000271029.4_Missense_Mutation_p.V1010M|LPHN2_ENST00000370721.1_Missense_Mutation_p.V935M|LPHN2_ENST00000370723.1_Missense_Mutation_p.V997M|LPHN2_ENST00000370725.1_Missense_Mutation_p.V1010M|LPHN2_ENST00000394879.1_Missense_Mutation_p.V997M|LPHN2_ENST00000370727.1_Missense_Mutation_p.V1010M|LPHN2_ENST00000370717.2_Missense_Mutation_p.V1010M|LPHN2_ENST00000335786.5_Missense_Mutation_p.V1010M			O95490	LPHN2_HUMAN	latrophilin 2	1010					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATCTTCTTGGTGATCACATT	0.299000													9	15					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222231	64222231	+	Missense_Mutation	SNP	G	G	A	rs55645281		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:64222231G>A	ENST00000205948.6	-	3	290	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	85	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCAGCAAAAGGACATACTCTG	0.318000													10	54					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5215312	5215312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5215312G>A	ENST00000372412.4	-	28	4542	c.4309C>T	c.(4309-4311)Cag>Tag	p.Q1437*	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1436*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q989*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1398*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q989*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1398*|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1416*|PTPRS_ENST00000587303.1_Nonsense_Mutation_p.Q1436*			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1436	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCAATGGGCTGGAGGATGACA	0.557000													10	22					0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096337	32096337	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:32096337G>A	ENST00000373703.4	-	5	754	c.732C>T	c.(730-732)atC>atT	p.I244I	HCRTR1_ENST00000373705.1_Intron	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	244	EF-hand 4.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TGCACACCTGGATGAAGCGGT	0.597000													17	24					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197397047	197397047	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:197397047C>T	ENST00000367397.1	+	3	1593	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CRB1_ENST00000544212.1_Silent_p.F345F|CRB1_ENST00000367400.3_Silent_p.F864F|CRB1_ENST00000367399.2_Silent_p.F752F|CRB1_ENST00000535699.1_Silent_p.F795F|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	864	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCTGGAATTCTTTCCAAATC	0.408000													16	35					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458485	142458485	+	Silent	SNP	C	C	T	rs145133152	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142458485C>T	ENST00000486171.1	+	2	137	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PRSS1_ENST00000311737.7_Silent_p.S40S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	40	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCAGGTGTCCCTGAATTCTG	0.557000													6	136					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175703	143175703	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143175703C>T	ENST00000408916.1	+	1	738	c.738C>T	c.(736-738)tcC>tcT	p.S246S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	246					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)					ATGCTCTGTCCTTTCTGTCCC	0.507000													15	77					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430047	135430047	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135430047G>A	ENST00000394143.1	+	6	4473	c.4182G>A	c.(4180-4182)gtG>gtA	p.V1394V	GPR112_ENST00000370652.1_Silent_p.V1394V|GPR112_ENST00000287534.4_Silent_p.V1331V|GPR112_ENST00000412101.1_Silent_p.V1189V|GPR112_ENST00000394141.1_Silent_p.V1189V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1394					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAGGACTGTGGAAATGATAG	0.448000													24	80					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46259804	46259804	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:46259804G>A	ENST00000336915.6	-	8	652	c.583C>T	c.(583-585)Cca>Tca	p.P195S	SKAP1_ENST00000584924.1_Missense_Mutation_p.P195S	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	195	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GCTTCTGCTGGACTAGTAGCT	0.378000													83	106					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347381	71347381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71347381C>T	ENST00000413702.1	+	4	1208	c.920C>T	c.(919-921)cCa>cTa	p.P307L	MUC7_ENST00000456088.1_Missense_Mutation_p.P307L|MUC7_ENST00000304887.5_Missense_Mutation_p.P307L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	307	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACAGCTGCCCCAATTACCACA	0.547000													56	168					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153476151	153476151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:153476151C>T	ENST00000288670.9	+	15	2123	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	586	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACCAGCTCCTCCCTTAGCACC	0.637000													14	5					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266382	43266382	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43266382G>A	ENST00000372585.5	+	1	381	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	SLC22A7_ENST00000372589.3_Missense_Mutation_p.E96K|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.E96K	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	96						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CACGTTGGGGGAAGAAAGGCA	0.622000													7	27					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:27326381C>T	ENST00000429845.2	-	22	2223	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	NEK10_ENST00000341435.5_Missense_Mutation_p.E621K|NEK10_ENST00000357467.2_Missense_Mutation_p.E18K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	621	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328000													25	22					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815793	158815793	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158815793G>A	ENST00000368141.4	+	5	1248	c.987_splice	c.e5+1	p.K329_splice		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	329	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGTTACAAAAGGTAAACCCTT	0.318000													26	43					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350999	134350999	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:134350999C>T	ENST00000357304.4	+	15	3538	c.3483C>T	c.(3481-3483)ctC>ctT	p.L1161L	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1161							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGGCTCGCTCCTGGAGAGGG	0.597000													5	16					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196602738C>T	ENST00000312428.6	-	65	12082	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.T477T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3994					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACAAAATTCGTGGAATGGC	0.453000													21	14					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978546	40978546	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:40978546G>A	ENST00000352632.3	+	2	104	c.18G>A	c.(16-18)ggG>ggA	p.G6G	SPTBN4_ENST00000598249.1_Silent_p.G6G|SPTBN4_ENST00000595535.1_Silent_p.G6G|SPTBN4_ENST00000344104.3_Silent_p.G6G|SPTBN4_ENST00000338932.3_Silent_p.G6G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	6	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTACCAGGGGAAGTGGACA	0.602000													8	17					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651890	196651890	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196651890T>A	ENST00000312428.6	-	58	10822	c.10722A>T	c.(10720-10722)gaA>gaT	p.E3574D	DNAH7_ENST00000409063.1_Missense_Mutation_p.E57D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3574	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCTTGAATTCCTCCTGTA	0.328000													24	17					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623916	25623916	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25623916G>A	ENST00000398215.2	+	4	441	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	90	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCAGCCGAAGGACGGACTCCC	0.597000													27	29					0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308477	17308477	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:17308477C>T	ENST00000425038.1	+	0	114					NR_003607.1																						AGATGTTTCTCCTAAAGATGA	0.408000													9	4					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58151834	58151834	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:58151834C>T	ENST00000548358.1	+	1	565	c.118C>T	c.(118-120)Cat>Tat	p.H40Y	MARCH9_ENST00000266643.5_Intron			Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	0						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGGGCCACCCATCACCTGGC	0.542000													8	18					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1128891	1128891	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:1128891C>T	ENST00000293897.4	+	1	111	c.23C>T	c.(22-24)tCc>tTc	p.S8F	SSTR5_ENST00000397547.2_Missense_Mutation_p.S8F|SSTR5_ENST00000562758.1_Missense_Mutation_p.S8F	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	8					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TTCCCAGCCTCCACGCCCAGC	0.721000													9	10					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409249	82409249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:82409249G>A	ENST00000370728.1	+	8	1639	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	LPHN2_ENST00000370730.1_Missense_Mutation_p.E332K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E332K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E332K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E332K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.E332K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E332K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E336K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E332K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E332K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E332K			O95490	LPHN2_HUMAN	latrophilin 2	332	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAAGACAATGAAAGTGAAAC	0.398000													19	75					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945495	144945495	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144945495G>A	ENST00000525985.1	-	2	1998	c.1927C>T	c.(1927-1929)Ctt>Ttt	p.L643F				P58107	EPIPL_HUMAN	epiplakin 1	643						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAGAAGGATGAGGGCA	0.627000													4	11					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050216	40050216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:40050216G>A	ENST00000373233.3	-	31	5236	c.5059C>T	c.(5059-5061)Cag>Tag	p.Q1687*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1687					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATGACATCCTGAACTTTAGAA	0.418000													19	48					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119382666	119382666	+	Silent	SNP	G	G	A	rs148013478		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:119382666G>A	ENST00000313400.4	-	18	3229	c.3129C>T	c.(3127-3129)atC>atT	p.I1043I	ASTN2_ENST00000288520.5_Silent_p.I144I|ASTN2_ENST00000341734.4_Silent_p.I95I|ASTN2_ENST00000361209.2_Silent_p.I992I|ASTN2_ENST00000358637.4_Silent_p.I95I|ASTN2_ENST00000361477.3_Silent_p.I95I|ASTN2_ENST00000373996.3_Silent_p.I1039I			O75129	ASTN2_HUMAN	astrotactin 2	1043						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCAGTCATCGATCACATCCC	0.532000													66	62					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722416	26722416	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:26722416G>A	ENST00000380573.3	-	2	1094	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ADRA1A_ENST00000380581.2_Missense_Mutation_p.S24F|ADRA1A_ENST00000519229.1_Missense_Mutation_p.S24F|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S24F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.S24F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.S24F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.S24F|ADRA1A_ENST00000380587.1_Missense_Mutation_p.S24F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.S24F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.S24F			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	24					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AATGGCCTTGGAAATGTTCAC	0.617000													43	171					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74097447	74097447	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:74097447G>A	ENST00000389156.4	-	9	1010	c.920C>T	c.(919-921)tCt>tTt	p.S307F	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.S247F	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	307										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATCTTTTAGAGAATCAATCTA	0.328000													11	24					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280862	280862	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:280862G>A	ENST00000534750.1	+	4	1333	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	NLRP6_ENST00000312165.5_Silent_p.K376K	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	376	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTTCGTGAAGGAGAACGAGA	0.622000													15	94					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19780747	19780747	+	Silent	SNP	C	C	T	rs142079702	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:19780747C>T	ENST00000269216.3	+	7	2026	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.S583S	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	583					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCACGTCCTCCGTGCGACCGG	0.667000													7	29					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952886	119952886	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:119952886G>A	ENST00000307142.4	+	4	3152	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	SYNPO2_ENST00000434046.2_Missense_Mutation_p.D986N|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D986N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	986						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATGCAAAGGATGGCCTCCC	0.498000													16	25					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193397	128193397	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:128193397G>A	ENST00000284694.7	-	3	492	c.372C>T	c.(370-372)ccC>ccT	p.P124P	C10orf90_ENST00000544758.1_Silent_p.P221P|C10orf90_ENST00000356858.3_Silent_p.P77P|C10orf90_ENST00000454341.1_Silent_p.P124P|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Silent_p.P77P	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	124										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTCCTCTTTGGGCGGCAGCT	0.647000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	59					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21698617	21698617	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:21698617G>A	ENST00000328843.6	+	30	5342	c.5311G>A	c.(5311-5313)Gaa>Aaa	p.E1771K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1766K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1771	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGGCTACGAAACAGCCCT	0.398000									Kartagener syndrome				3	15					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322338	45322338	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:45322338A>T	ENST00000391955.1	+	11	1406	c.1362A>T	c.(1360-1362)gaA>gaT	p.E454D	BCAM_ENST00000270233.6_Missense_Mutation_p.E454D			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	454	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGACAGCGGAAATAGAGCCCA	0.572000													48	120					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477558	128477558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:128477558G>A	ENST00000322313.4	-	16	2199	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	681	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGAGGTCCAGGATGCCTCTGC	0.642000													36	11					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101775564	101775564	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:101775564C>T	ENST00000254190.3	-	2	1014	c.539G>A	c.(538-540)cGt>cAt	p.R180H		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	180					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTCTCCAGACGGTCTCCTTT	0.502000													14	89					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741636	18741636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:18741636C>T	ENST00000513874.1	-	6	632	c.493G>A	c.(493-495)Gac>Aac	p.D165N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	165	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTTTGAAGTCCATTTTCTCT	0.517000													9	37					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193154	104193154	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104193154G>C	ENST00000374855.4	-	2	140	c.16C>G	c.(16-18)Cca>Gca	p.P6A	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	6					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GTGAGGGCTGGAAATCGGTGG	0.537000													6	23					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756072	10756072	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10756072C>T	ENST00000416569.2	-	3	1342	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	XKR6_ENST00000304437.2_Missense_Mutation_p.R160Q	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	439						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATTCGATATCGAGTCCGCCC	0.463000													9	18					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681093	234681093	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234681093C>T	ENST00000305139.6	+	5	1626	c.1487C>T	c.(1486-1488)gCc>gTc	p.A496V	UGT1A8_ENST00000373450.4_Missense_Mutation_p.A494V|UGT1A9_ENST00000354728.4_Missense_Mutation_p.A494V|UGT1A10_ENST00000344644.5_Missense_Mutation_p.A494V|UGT1A3_ENST00000482026.1_Missense_Mutation_p.A498V|UGT1A6_ENST00000373424.1_Missense_Mutation_p.A229V|UGT1A4_ENST00000373409.3_Missense_Mutation_p.A498V|UGT1A5_ENST00000373414.3_Missense_Mutation_p.A498V|UGT1A7_ENST00000373426.3_Missense_Mutation_p.A494V|UGT1A1_ENST00000305208.5_Missense_Mutation_p.A497V	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTCCTCTTGGCCGTCGTGCTG	0.542000													49	24					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399471	10399471	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10399471C>T	ENST00000226207.5	-	35	5060		c.e35-1		CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							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						GCTGGGTATCCTGTGGAACAA	0.542000													17	12					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026306	27026306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:27026306G>A	ENST00000354760.3	+	6	481	c.446G>A	c.(445-447)tGg>tAg	p.W149*	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	149	Beta/gamma crystallin 'Greek key' 4.	Susceptible to oxidation.			camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.W149L(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TTTTCCAGCTGGGTTTGCTCC	0.512000													8	28					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358371	124358371	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:124358371C>T	ENST00000368909.3	+	26	3144	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	DMBT1_ENST00000338354.3_Missense_Mutation_p.S1013F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1003F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S514F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S514F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1003F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1013	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCAAGGCTCCTGGGGCACC	0.587000													173	214					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216604	149216604	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149216604C>T	ENST00000309241.5	+	8	2618	c.2586C>T	c.(2584-2586)caC>caT	p.H862H	PPARGC1B_ENST00000360453.4_Silent_p.H823H|PPARGC1B_ENST00000394320.3_Silent_p.H862H|PPARGC1B_ENST00000403750.1_Silent_p.H798H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	862					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CACCCTGCCACTCCTGGTCAC	0.642000													80	96					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32841898	32841898	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:32841898G>A	ENST00000397452.1	-	5	570	c.460C>T	c.(460-462)Cct>Tct	p.P154S	BPIFC_ENST00000300399.3_Missense_Mutation_p.P154S|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	154						extracellular region	lipopolysaccharide binding|phospholipid binding										TTCAGGGTAGGATGACCAAAG	0.512000													16	15					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596821	104596821	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:104596821C>T	ENST00000369887.3	-	1	469		c.e1+1		CYP17A1_ENST00000489268.1_Splice_Site	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1						androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCACCACTTACCATTTGAGGC	0.567000													16	34					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39880954	39880954	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39880954C>T	ENST00000393939.2	-	10	1793	c.1784G>A	c.(1783-1785)tGa>tAa	p.*595*	HAP1_ENST00000310778.5_Silent_p.*672*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.*620*|HAP1_ENST00000341193.5_Silent_p.*603*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	0	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTCTCTTTTCATCGGCACGA	0.587000													33	141					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915751	131915751	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:131915751C>T	ENST00000378823.3	+	5	1150	c.332C>T	c.(331-333)cCa>cTa	p.P111L	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000265335.6_Missense_Mutation_p.P250L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	250					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTTGATCCATTGAAGGTA	0.318000								Homologous recombination					15	30					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7755877	7755877	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7755877C>T	ENST00000254846.5	+	20	4922	c.4533C>T	c.(4531-4533)atC>atT	p.I1511I	KDM6B_ENST00000448097.2_Silent_p.I1511I	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1511					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCAAATCCATCGTGCCCATGA	0.527000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	18					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32768380	32768380	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:32768380C>T	ENST00000380250.3	+	29	4188	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACACAGGTTCCTACCAACTT	0.428000													17	29					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348803	103348803	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:103348803G>A	ENST00000358392.2	-	64	5276	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	COL11A1_ENST00000512756.1_Silent_p.F1525F|COL11A1_ENST00000353414.4_Silent_p.F1602F|COL11A1_ENST00000370096.3_Silent_p.F1641F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1641	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACCAGATGTGAAATTACAGT	0.368000													16	46					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:108488514G>A	ENST00000408999.3	+	20	4131	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1352K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000													116	58					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36125020	36125020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:36125020G>A	ENST00000258840.6	-	29	4502	c.4112C>T	c.(4111-4113)tCc>tTc	p.S1371F	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1324F|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1324F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1337F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1324	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCTTTAAGGAAACACAAAT	0.308000													32	23					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180053	168180053	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:168180053C>T	ENST00000519560.1	-	18	2299	c.1880G>A	c.(1879-1881)gGc>gAc	p.G627D	SLIT3_ENST00000332966.8_Missense_Mutation_p.G627D|SLIT3_ENST00000404867.3_Missense_Mutation_p.G627D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	627					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAACTCAGGCCGGCAAAGGT	0.542000													13	21					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661325	39661325	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39661325C>T	ENST00000246635.3	-	1	524	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	KRT13_ENST00000587544.1_Missense_Mutation_p.E160K|KRT13_ENST00000336861.3_Missense_Mutation_p.E160K	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	160	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGAGCTCTTCAATGGTCTTG	0.597000													8	40					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635443	33635443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:33635443C>T	ENST00000380099.3	+	4	2235	c.2227C>T	c.(2227-2229)Caa>Taa	p.Q743*	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	743	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCTTTCTCCCAAAAGGACAA	0.483000													9	26					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110234393	110234393	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110234393G>A	ENST00000418703.2	-	6	1363	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.S389S|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000392719.2_Silent_p.S376S|TRPV4_ENST00000261740.2_Silent_p.S423S|TRPV4_ENST00000541794.1_Silent_p.S376S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	423					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ACGTGTCCAGGGAGGAGAGGT	0.607000													18	44					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239225	48239225	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:48239225G>A	ENST00000309562.2	+	1	882	c.864G>A	c.(862-864)agG>agA	p.R288R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACACACTCAGGAATGCAGAGG	0.433000													13	35					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398360	10398360	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10398360C>T	ENST00000226207.5	-	37	5448	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1785						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						CTTCTTCATCCGCTCCAGATG	0.527000													28	59					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599623	3599623	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:3599623G>A	ENST00000302006.3	+	2	613	c.561G>A	c.(559-561)aaG>aaA	p.K187K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCTCAAGAAGGAGAACAAGG	0.642000													36	43					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700806	49700806	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49700806G>A	ENST00000296452.4	+	7	11329	c.11215G>A	c.(11215-11217)Gca>Aca	p.A3739T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3739					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGTCAAAGGCAGAACCCCA	0.632000													26	76					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381620	121381620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121381620G>A	ENST00000297848.3	+	47	5477	c.5207G>A	c.(5206-5208)gGa>gAa	p.G1736E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1641E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1736E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1736	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTCCTGGACCAAGAGGC	0.592000													15	33					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129869120	129869120	+	Silent	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:129869120T>C	ENST00000254667.3	+	15	1621	c.1342T>C	c.(1342-1344)Ttg>Ctg	p.L448L	PTPRE_ENST00000419012.2_Silent_p.L448L|PTPRE_ENST00000306042.5_Silent_p.L390L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	448	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GACGGGCAACTTGCCGGCAAA	0.562000													3	26					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039343	49039343	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:49039343C>T	ENST00000267163.4	+	23	2466	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	776	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCTCTAGCCCCCTACCTTGT	0.403000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			21	63					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262714	39262714	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39262714G>A	ENST00000407418.3	-	5	862	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	CBX6_ENST00000216083.6_Missense_Mutation_p.P229S			O95503	CBX6_HUMAN	chromobox homolog 6	247					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCCTTGCCGGGGGACGGGGCT	0.716000													28	73					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12378153	12378153	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12378153T>A	ENST00000358136.3	+	31	7303	c.7173T>A	c.(7171-7173)ttT>ttA	p.F2391L	VPS13D_ENST00000356315.4_Missense_Mutation_p.F2391L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2391					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCCTGCTTTACAGTAGTTC	0.353000													46	130					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457212	6457212	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6457212G>A	ENST00000358945.3	-	13	2343	c.1903C>T	c.(1903-1905)Cct>Tct	p.P635S	SCNN1A_ENST00000543768.1_Missense_Mutation_p.P636S|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P672S|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Missense_Mutation_p.P613S|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P313S			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	613					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	tgggaaggaggggaggatgcc	0.652000													5	12					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	401995	401995	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:401995C>T	ENST00000256509.2	+	12	1836	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	CHL1_ENST00000397491.2_Silent_p.F382F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	382	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATGTTGTCTTCCCCAGGGAAA	0.373000													13	46					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100201349	100201349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:100201349G>A	ENST00000209668.2	-	7	1029	c.916C>T	c.(916-918)Cct>Tct	p.P306S	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	306					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGCAGCATAGGGTTCATTGAG	0.473000													47	91					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127540619	127540619	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:127540619G>A	ENST00000434178.2	-	2	939	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	MGLL_ENST00000398104.1_Missense_Mutation_p.P15S|MGLL_ENST00000453507.2_Missense_Mutation_p.P25S|MGLL_ENST00000265052.5_Missense_Mutation_p.P25S			Q99685	MGLL_HUMAN	monoglyceride lipase	15					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCCTGGTAGGGAATGCTCTGC	0.527000													21	90					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184682	39184682	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39184682G>A	ENST00000273153.5	-	5	1811	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.P545L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	545					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCATCCCCAGGTGGAGACAG	0.577000													19	57					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789526	6789526	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:6789526G>A	ENST00000338569.2	-	1	760	c.663C>T	c.(661-663)gtC>gtT	p.V221V		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTGAATAGGACTAGTGTGT	0.498000													7	15					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039975	31039975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:31039975C>T	ENST00000355537.3	+	4	3596	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1150L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCCTGATCCCCGAAACCACG	0.547000													9	23					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46594906	46594906	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:46594906G>A	ENST00000398637.5	-	13	1672	c.978C>T	c.(976-978)gcC>gcT	p.A326A	SLC38A1_ENST00000549049.1_Silent_p.A326A|SLC38A1_ENST00000439706.1_Silent_p.A326A|SLC38A1_ENST00000546893.1_Silent_p.A326A|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.A326A	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	326					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGCCAAAAATGGCAGTCAAGA	0.274000													10	18					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055851	40055851	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40055851G>A	ENST00000336649.4	+	17	2616	c.2616G>A	c.(2614-2616)caG>caA	p.Q872Q	CACNA1I_ENST00000404898.1_Silent_p.Q831Q|CACNA1I_ENST00000407673.1_Silent_p.Q831Q|CACNA1I_ENST00000402142.3_Silent_p.Q866Q|CACNA1I_ENST00000401624.1_Silent_p.Q866Q|CACNA1I_ENST00000400164.3_Silent_p.Q831Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	866					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGGGCTTCCAGGCGGAGGTGA	0.617000													17	50					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49218504	49218504	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49218504C>T	ENST00000301050.2	+	5	659	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	CACNB3_ENST00000547230.1_Missense_Mutation_p.P113S|CACNB3_ENST00000547392.1_Missense_Mutation_p.P154S|CACNB3_ENST00000540990.1_Missense_Mutation_p.P141S|CACNB3_ENST00000536187.2_Missense_Mutation_p.P153S|CACNB3_ENST00000550168.1_3'UTR	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	154					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	ACGCTCCCCTCCGCCATCTCT	0.557000													6	33					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74282008	74282008	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:74282008G>A	ENST00000295897.4	+	10	1316	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	ALB_ENST00000503124.1_Silent_p.Q259Q|ALB_ENST00000415165.2_Silent_p.Q217Q|ALB_ENST00000401494.3_Silent_p.Q294Q|ALB_ENST00000509063.1_Silent_p.Q409Q|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	409	Albumin 3.			Q -> E (in Ref. 14; AAH14308).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAGCCTCAGAATTTAATCA	0.318000													9	26					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692683	44692683	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:44692683G>A	ENST00000381176.4	-	3	282	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	50						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTTGTCCGAGAGCCGGGGGC	0.542000													45	335					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763562	92763562	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92763562C>T	ENST00000318238.4	-	5	2939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E575K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E575K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	575										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACATATTTTCCATTCCTTTG	0.358000													20	43					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865941	139865941	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:139865941C>T	ENST00000370532.2	-	1	782	c.591G>A	c.(589-591)agG>agA	p.R197R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	197	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TATATGTCTTCCTGAAGATCC	0.443000													87	31					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881920	2881920	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2881920C>T	ENST00000382280.3	+	4	466	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ZG16B_ENST00000572863.1_Silent_p.F99F	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	129						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCCAAGCTTTCCTCCGGGGTA	0.547000													11	25					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50946841	50946841	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:50946841G>A	ENST00000357701.5	+	10	1044	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	331	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TAGCTGTCAAGGATGAGAAGT	0.502000													7	8					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338027	42338027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42338027C>T	ENST00000262418.6	-	5	480	c.325G>A	c.(325-327)Gag>Aag	p.E109K	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	109					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTACGCAGCTCTAGGAGGCTC	0.652000													16	57					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52520438	52520438	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:52520438G>A	ENST00000242839.4	-	13	3198	c.3042C>T	c.(3040-3042)ccC>ccT	p.P1014P	ATP7B_ENST00000400370.3_Silent_p.P584P|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000417240.2_Silent_p.P286P|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.P807P|ATP7B_ENST00000400366.3_Silent_p.P903P|ATP7B_ENST00000448424.2_Silent_p.P936P	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1014					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCATCTCCAGGGGCTTGCCTC	0.592000									Wilson disease				4	10					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799723	76799723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76799723G>A	ENST00000312010.6	-	16	2878	c.2554C>T	c.(2554-2556)Ccg>Tcg	p.P852S	USP36_ENST00000542802.2_Missense_Mutation_p.P852S|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	852					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GTGTCCTCCGGGCGcttcttc	0.672000													9	45					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:56247769C>T	ENST00000545221.1	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000													18	122					0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131150102	131150102	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:131150102C>T	ENST00000372847.1	+	3	165	c.155C>T	c.(154-156)tCc>tTc	p.S52F	URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_Silent_p.I38I|URM1_ENST00000372853.4_Silent_p.I38I|URM1_ENST00000452446.1_Silent_p.I38I			Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CAGGGGACATCCGGAACCTGC	0.532000													58	51					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644898	35644898	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:35644898C>T	ENST00000400445.3	+	10	2014	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	NBEA_ENST00000540320.1_Missense_Mutation_p.H494Y|NBEA_ENST00000310336.4_Missense_Mutation_p.H494Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H494Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	494						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.H494Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGTGCAATTCATTCAATTGG	0.333000													13	33					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137229	42137229	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:42137229C>A	ENST00000382448.4	+	18	1902	c.1893C>A	c.(1891-1893)aaC>aaA	p.N631K	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.N631K|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.N400K|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.N400K	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		400	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCTTCACCAACCTGTGGGCCC	0.692000													3	4					1	1	1	1	0
HKDC1	80201	broad.mit.edu	37	10	70992863	70992863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:70992863C>T	ENST00000354624.5	+	4	602	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	HKDC1_ENST00000395086.2_Missense_Mutation_p.P157S	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	157	Glucose-binding (Potential).				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTTTTCTTTCCCCTGTCGACA	0.502000													20	66					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6904145	6904145	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:6904145C>T	ENST00000312053.4	+	8	938	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	EMR1_ENST00000381407.5_Missense_Mutation_p.H160Y|EMR1_ENST00000250572.8_Missense_Mutation_p.H301Y|EMR1_ENST00000381404.4_Missense_Mutation_p.H249Y|EMR1_ENST00000450315.3_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	301	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGCAGGCTTTCATCCCAATCC	0.473000													10	36					0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129691019	129691019	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:129691019G>A	ENST00000368671.3	-	1	192	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	10						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGCTTGATAAGAACATCAATG	0.368000													9	55					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312248	99312248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99312248C>T	ENST00000336374.2	-	8	730	c.728G>A	c.(727-729)aGa>aAa	p.R243K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	243					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TATAACTTTTCTTGGAAACAC	0.343000													18	88					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129381003	129381003	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:129381003G>A	ENST00000421865.2	+	3	407	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	120	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGGAATCGAATACCATTA	0.358000													10	9					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073669	20073669	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:20073669C>T	ENST00000351989.3	+	2	612	c.183C>T	c.(181-183)ctC>ctT	p.L61L	DGCR8_ENST00000407755.1_Silent_p.L61L|DGCR8_ENST00000383024.2_Silent_p.L61L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	61	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTCCGAACTCCCTGCTGAGG	0.577000													21	72					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469098	10469098	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10469098G>A	ENST00000382483.3	-	4	2733	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	837					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCGCTGGGCCTCTTGGGC	0.711000													10	9					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986686	44986686	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:44986686G>A	ENST00000296127.3	-	3	678	c.405C>T	c.(403-405)atC>atT	p.I135I	ZDHHC3_ENST00000342790.4_Silent_p.I169I|ZDHHC3_ENST00000424952.2_Silent_p.I135I	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	135						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GGTCGGGCTTGATGCTGCAGC	0.587000													31	79					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794675	42794675	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42794675C>T	ENST00000572681.2	+	11	4550	c.4482C>T	c.(4480-4482)tcC>tcT	p.S1494S	CIC_ENST00000575354.2_Silent_p.S585S|CIC_ENST00000160740.3_Silent_p.S585S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGACACCTTCCAAGGCAACCC	0.682000			"""Mis, F, S"""		oligodendroglioma								35	70					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584466	1584466	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:1584466C>T	ENST00000381297.4	-	2	1196	c.986G>A	c.(985-987)aGg>aAg	p.R329K		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACGTGGTCCTGGCGGAGAA	0.697000			T	CRLF2	"""B-ALL, Downs associated ALL"""								44	41					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479302	25479302	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:25479302C>T	ENST00000453082.2	+	0	1843					NR_003343.1																						AGCTCTGACCCTTCCTGACTC	0.612000													15	59					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725359	11725359	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:11725359C>T	ENST00000262442.3	+	46	8898	c.8830C>T	c.(8830-8832)Cgg>Tgg	p.R2944W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2944W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2944	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTTATAGATCGGATCCGGCG	0.463000													17	17					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150065677	150065677	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:150065677C>T	ENST00000369130.3	+	13	1972	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	VPS45_ENST00000369128.5_Missense_Mutation_p.H371Y|VPS45_ENST00000535106.1_Missense_Mutation_p.H407Y	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	476					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCCTGGATCATCTCATCAA	0.378000													11	53					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190975	42190975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42190975C>T	ENST00000006724.3	-	2	443	c.242G>A	c.(241-243)gGa>gAa	p.G81E	CEACAM7_ENST00000401731.1_Missense_Mutation_p.G81E|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.G81E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G81E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	81	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTTTACATATCCTATAATTCG	0.463000													34	55					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14216493	14216493	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:14216493C>T	ENST00000403951.2	-	25	2697	c.2278G>A	c.(2278-2280)Ggg>Agg	p.G760R	DGKB_ENST00000402815.1_Missense_Mutation_p.G759R|DGKB_ENST00000258767.5_Missense_Mutation_p.G760R|DGKB_ENST00000406247.3_Missense_Mutation_p.G760R|DGKB_ENST00000399322.3_Missense_Mutation_p.G760R|DGKB_ENST00000444700.2_Missense_Mutation_p.G741R|DGKB_ENST00000407950.1_Missense_Mutation_p.G752R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	760					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CATGGCTCCCCATCAATTTGC	0.388000													29	94					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551877	58551877	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:58551877G>A	ENST00000282326.1	+	4	677	c.430G>A	c.(430-432)Ggg>Agg	p.G144R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	144					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGGAAGATGGGAAGAGTCC	0.627000													33	65					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241899	34241899	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:34241899A>T	ENST00000374114.3	-	3	1609	c.1346T>A	c.(1345-1347)tTt>tAt	p.F449Y	RBM12_ENST00000359646.1_Missense_Mutation_p.F449Y|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.F449Y|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	449	RRM 2.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTTTTAAAAAAATCAATGAC	0.388000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	72					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395794	154395794	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:154395794C>T	ENST00000435029.4	+	1	2535	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	792	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGAATCCACCTCCTAAACTC	0.438000													11	13					0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356617	52356617	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:52356617C>T	ENST00000261845.5	+	6	2393	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	529					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GATTTTGATTCCTTTATTGCA	0.403000													5	23					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36360811	36360811	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:36360811C>T	ENST00000373204.4	+	8	1174	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	AGO1_ENST00000373206.1_Missense_Mutation_p.P246S	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCTCAAGTATCCCCATCTGCC	0.478000													9	38					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762616	130762616	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:130762616C>T	ENST00000392429.1	+	2	3427	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S350F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S350F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	350						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGAATAATTCCATTGGGGAG	0.522000													11	15					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4994885	4994885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:4994885C>T	ENST00000318833.3	+	2	422	c.86C>T	c.(85-87)cCa>cTa	p.P29L		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAAAATTTCCAAAAGTGGTT	0.423000													11	29					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85965660	85965660	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:85965660G>A	ENST00000372117.3	+	10	1043	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CDHR1_ENST00000332904.3_Missense_Mutation_p.E314K|CDHR1_ENST00000440770.2_Missense_Mutation_p.E73K	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	314	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCTCCAGAGAGAGGTGTATGA	0.542000											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881254	33881254	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:33881254C>T	ENST00000504830.1	-	2	794	c.459G>A	c.(457-459)ggG>ggA	p.G153G	ADAMTS12_ENST00000352040.3_Silent_p.G153G|ADAMTS12_ENST00000515401.1_Silent_p.G153G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGCTGCCGTCCCAACTCTGG	0.587000										HNSCC(64;0.19)			24	43					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475459	24475459	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:24475459C>T	ENST00000230036.1	-	5	441	c.330_splice	c.e5-1	p.D111_splice	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	111						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTCTCTGTGTCCTGCCAAACA	0.368000													13	41					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519829	113519829	+	Missense_Mutation	SNP	C	C	T	rs145814266		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:113519829C>T	ENST00000284601.3	-	4	1386	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	440					glycogen metabolic process	integral to membrane		p.D440N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGCATTATCATCCAGGACT	0.418000													42	67					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603144	111603144	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:111603144C>T	ENST00000431670.2	+	2	631	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PHLDB2_ENST00000478922.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P74S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P101S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P74S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	74						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGCCCTTCTCCTTTGGGAAC	0.443000													44	142					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111845	142111845	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142111845G>A	ENST00000390378.1	-	0	14																											CCCAGCAGAGGAGCCCGGGGC	0.602000													3	42					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73422349	73422349	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73422349C>T	ENST00000553457.1	+	11	1114	c.824C>T	c.(823-825)tCt>tTt	p.S275F	DCAF4_ENST00000509153.1_Missense_Mutation_p.S315F|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275F|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375F|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205F|DCAF4_ENST00000555042.1_Missense_Mutation_p.S369F			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTGACCTCTGTGCGGATC	0.547000													51	120					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598590	179598590	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179598590C>A	ENST00000589042.1	-	53	15750	c.15526G>T	c.(15526-15528)Gat>Tat	p.D5176Y	TTN_ENST00000342992.6_Missense_Mutation_p.D3932Y|TTN_ENST00000591111.1_Missense_Mutation_p.D4859Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4859	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATCAAATCATCTACTTTC	0.408000													8	19					3.09899e-07	3.12628e-07	1	1	0
TMC7	79905	broad.mit.edu	37	16	19020694	19020694	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19020694C>T	ENST00000304381.5	+	2	398	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	TMC7_ENST00000569532.1_Missense_Mutation_p.L90F|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	90						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGCCATTCTCTTCGAAATTA	0.493000													37	39					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827877	182827877	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:182827877C>T	ENST00000367549.3	+	10	1020	c.910C>T	c.(910-912)Cct>Tct	p.P304S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	304	Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCCTGAAGATCCTTCTGTGCC	0.398000													21	29					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190634	153190634	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:153190634C>T	ENST00000285900.5	+	16	2913	c.2570C>T	c.(2569-2571)tCg>tTg	p.S857L	GRIA1_ENST00000340592.5_Missense_Mutation_p.S857L|GRIA1_ENST00000518783.1_Missense_Mutation_p.S867L|GRIA1_ENST00000448073.4_Missense_Mutation_p.S867L|GRIA1_ENST00000521843.2_Missense_Mutation_p.S788L|GRIA1_ENST00000518142.1_Missense_Mutation_p.S777L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	857					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATACGGACATCGACCCTCCCC	0.587000													35	44					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20792812	20792812	+	Silent	SNP	C	C	T	rs138359943		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:20792812C>T	ENST00000359062.3	+	10	2212	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	724					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACATGGGCCTCTTTGAAGCTT	0.338000													6	41					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444164	5444164	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5444164C>T	ENST00000300778.4	+	1	824	c.734C>T	c.(733-735)tCc>tTc	p.S245F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTGCCTGTCCCACATTCTA	0.493000													25	56					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233995312	233995312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:233995312C>T	ENST00000359570.5	+	5	619	c.619C>T	c.(619-621)Cct>Tct	p.P207S	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.P207S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	207					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAGCAGTCTTCCTCACCTGAA	0.552000													14	7					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121345595	121345595	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121345595A>T	ENST00000338040.4	+	4	2382	c.1968A>T	c.(1966-1968)gaA>gaT	p.E656D		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	656					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGTTTAATGAAGTCACCTCCA	0.463000													31	118					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267915	48267915	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48267915G>A	ENST00000225964.5	-	34	2504	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	796	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGCACCACGAGCTCCAGTG	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						26	168					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79465227	79465227	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:79465227G>A	ENST00000507668.2	-	6	844	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	SERINC5_ENST00000509193.1_Silent_p.L232L|SERINC5_ENST00000512721.1_Silent_p.L232L|SERINC5_ENST00000512972.2_Silent_p.L232L	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	232					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		ACTCCCAGCAGAATTTTGTTT	0.453000													14	36					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045139	102045139	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:102045139G>A	ENST00000549145.1	+	15	1558	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E	MYBPC1_ENST00000545503.2_Silent_p.E473E|MYBPC1_ENST00000547405.1_Silent_p.E447E|MYBPC1_ENST00000541119.1_Silent_p.E461E|MYBPC1_ENST00000361685.2_Silent_p.E498E|MYBPC1_ENST00000547509.1_Silent_p.E459E|MYBPC1_ENST00000441232.1_Silent_p.E473E|MYBPC1_ENST00000452455.2_Silent_p.E473E|MYBPC1_ENST00000392934.3_Silent_p.E460E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.E374E|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000550270.1_Silent_p.E473E|MYBPC1_ENST00000360610.2_Silent_p.E473E|MYBPC1_ENST00000536007.1_Silent_p.E454E|MYBPC1_ENST00000361466.2_Silent_p.E498E|MYBPC1_ENST00000553190.1_Silent_p.E473E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	473	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTGTTCAGGAGAGTGACCGTC	0.433000													33	114					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958874	54958874	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:54958874C>T	ENST00000273286.5	-	2	538	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E50K|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	126						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAATCAAGCTCCCTCAGCTGA	0.463000													19	37					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628363	134628363	+	Silent	SNP	C	C	T	rs150957319	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134628363C>T	ENST00000368586.5	-	51	7273	c.7173G>A	c.(7171-7173)gcG>gcA	p.A2391A	TTC40_ENST00000263170.5_Silent_p.A552A	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	552										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCCCTTCTTCGCTAGGCTTC	0.597000													43	110					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38851140	38851140	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38851140C>T	ENST00000215069.4	+	12	1487	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	CATSPERG_ENST00000410018.1_Silent_p.L500L|CATSPERG_ENST00000409235.3_Silent_p.L540L			Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	0					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCTGGTACCTCCTGGAGGGCA	0.587000													24	30					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612238	48612238	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:48612238C>T	ENST00000328333.8	-	76	6447	c.6340G>A	c.(6340-6342)Ggt>Agt	p.G2114S	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2082S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2114	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTAGCACCCTTGAGTCCA	0.582000													6	43					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87570348	87570348	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:87570348G>A	ENST00000376214.1	+	19	3026	c.2088G>A	c.(2086-2088)agG>agA	p.R696R	NTRK2_ENST00000376213.1_Silent_p.R680R|NTRK2_ENST00000323115.4_Silent_p.R680R|NTRK2_ENST00000277120.3_Silent_p.R696R	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	680	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCCACCAGGAACTGCCTGG	0.592000										TSP Lung(25;0.17)			11	22					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182554145	182554145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:182554145C>T	ENST00000323116.5	+	6	699	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ATP11B_ENST00000493826.1_Nonsense_Mutation_p.R147*|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	147					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGATATTGTTCGAATAGCCAA	0.398000													29	104					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1715107	1715107	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:1715107C>T	ENST00000397412.3	+	14	2819	c.2720C>T	c.(2719-2721)tCc>tTc	p.S907F	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S904F|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S285F|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S907F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	907						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AACGTTTGTTCCTTCTCCATC	0.498000													7	26					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417606	178417606	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:178417606C>T	ENST00000231188.5	-	4	1177	c.999G>A	c.(997-999)agG>agA	p.R333R	GRM6_ENST00000517717.1_Silent_p.R333R	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	333					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGATGGAGGCCCTTTTGGGCA	0.612000													12	18					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415410	71415410	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:71415410G>A	ENST00000392650.3	-	16	2081	c.2081C>T	c.(2080-2082)cCa>cTa	p.P694L	SDK2_ENST00000388726.3_Missense_Mutation_p.P694L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	694	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACGTTCTGTGGAGGGGCCGT	0.562000													9	30					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99519711	99519711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:99519711G>A	ENST00000376460.1	-	30	3334	c.3254C>T	c.(3253-3255)cCa>cTa	p.P1085L	DOCK9_ENST00000442173.1_Missense_Mutation_p.P1085L|DOCK9_ENST00000339416.2_Missense_Mutation_p.P1086L|DOCK9_ENST00000448493.2_Missense_Mutation_p.P1097L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1086					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCCAAATGGCATTGGTAA	0.343000													29	23					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102198024	102198024	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:102198024G>A	ENST00000335968.3	-	17	2325	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	TARSL2_ENST00000559492.1_Intron	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	703					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCCACAGGGATGACCATCA	0.343000													5	15					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911562	38911562	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38911562G>A	ENST00000454404.2	-	4	576	c.363C>T	c.(361-363)atC>atT	p.I121I	RASGRP4_ENST00000587738.1_Silent_p.I121I|RASGRP4_ENST00000586305.1_Silent_p.I121I|RASGRP4_ENST00000426920.2_Silent_p.I121I|RASGRP4_ENST00000587753.1_Silent_p.I121I|RASGRP4_ENST00000433821.2_Silent_p.I121I|RASGRP4_ENST00000293062.9_Silent_p.I121I	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	121	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGTGACAGATCTGCAGCC	0.572000													18	32					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101786	21101786	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:21101786C>T	ENST00000377122.4	-	24	2826	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	NEBL_ENST00000377159.4_Silent_p.R113R|NEBL_ENST00000417816.2_Silent_p.R147R	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	810					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGTGTTCTTCCTCACTCTCT	0.483000													16	27					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490720	76490720	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76490720G>A	ENST00000389840.5	-	40	6307	c.6183C>T	c.(6181-6183)ttC>ttT	p.F2061F	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.F2070F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCAGAGCCGGGAAGAGGTCCC	0.597000													45	181					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705806	77705806	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:77705806C>T	ENST00000298351.4	+	11	921	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	259						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCTACGACGTCAGGAACCTGA	0.627000													23	30					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864408	153864408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:153864408C>T	ENST00000511601.1	+	2	387	c.199C>T	c.(199-201)Cct>Tct	p.P67S	FHDC1_ENST00000260008.3_Missense_Mutation_p.P67S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	67					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACCTCCACTTCCTGGGGAGCC	0.592000													9	14					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151827063	151827063	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151827063C>T	ENST00000535741.1	-	13	2155	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	LRBA_ENST00000357115.3_Missense_Mutation_p.G561E|LRBA_ENST00000507224.1_Missense_Mutation_p.G561E|LRBA_ENST00000510413.1_Missense_Mutation_p.G561E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	561						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAGGGGCATCCCATTCTGCAG	0.373000													11	39					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439989	52439989	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:52439989G>A	ENST00000242819.4	+	2	771	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	159						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCTGTGGGAGGAAGAAAAGGC	0.547000													31	59					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088211	92088211	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:92088211G>A	ENST00000256343.3	-	19	2157	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	667					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGCTTGTGATGAGGAAGCTGC	0.403000													9	23					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132919	7132919	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7132919G>A	ENST00000005340.5	-	6	1017	c.735C>T	c.(733-735)ccC>ccT	p.P245P	DVL2_ENST00000575458.1_Silent_p.P239P|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	245					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCAGGCGGGGTGGCCTCT	0.667000													30	61					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57271003	57271003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:57271003C>T	ENST00000262293.4	+	5	865	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	185	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAGCCATTTtcctcctcctcc	0.552000													9	60					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897663	36897663	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:36897663G>A	ENST00000429976.2	-	12	3665	c.3418C>T	c.(3418-3420)Ccc>Tcc	p.P1140S	TRANK1_ENST00000428977.2_Missense_Mutation_p.P590S|TRANK1_ENST00000301807.6_Missense_Mutation_p.P590S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1140					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTGGTGGGGATGTTCTGGT	0.522000													15	43					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101201053	101201053	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:101201053C>T	ENST00000341267.4	+	5	1214	c.972C>T	c.(970-972)atC>atT	p.I324I	DLK1_ENST00000331224.6_Silent_p.I251I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	324					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTGTGGGTATCGTCTTCCTCA	0.587000													21	49					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698762	49698762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49698762G>A	ENST00000296452.4	+	6	9598	c.9484G>A	c.(9484-9486)Gag>Aag	p.E3162K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3162					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCAACTATGAGGTGATCGC	0.612000													30	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058777	9058777	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9058777C>T	ENST00000397910.4	-	3	28872	c.28669G>A	c.(28669-28671)Gac>Aac	p.D9557N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9559	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCATGTTGTCTCTTATAGAG	0.488000													11	30					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119415	3119415	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:3119415C>A	ENST00000304094.1	+	1	501	c.501C>A	c.(499-501)tcC>tcA	p.S167S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTAGTCTGTCCTTCTGTGGCA	0.488000													46	16					4.21674e-32	4.31082e-32	1	1	0
ZNF132	7691	broad.mit.edu	37	19	58945019	58945019	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:58945019G>A	ENST00000254166.3	-	3	2192	c.1792C>T	c.(1792-1794)Cct>Tct	p.P598S		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	598						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CATTTATAAGGCTTTTCTCCA	0.398000													22	44					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175507	19175507	+	Missense_Mutation	SNP	C	C	T	rs1137474		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:19175507C>T	ENST00000263200.10	-	28	4492	c.4420G>A	c.(4420-4422)Gag>Aag	p.E1474K	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1474K|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1474K|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1474	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.			E -> K (in Ref. 3; AAB40908/AAB40909).	anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGTCCTCCTCCTCTGTCAGC	0.587000			T	?	ALCL								69	78					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232143139	232143139	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:232143139C>G	ENST00000349938.4	+	16	1713	c.1519C>G	c.(1519-1521)Ctt>Gtt	p.L507V	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	507							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTCAAAGTCCTTTCGGATCT	0.517000													69	23					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68459045	68459045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:68459045C>T	ENST00000265404.2	+	8	879	c.797C>T	c.(796-798)cCa>cTa	p.P266L	STAP1_ENST00000396225.1_Missense_Mutation_p.P266L	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	266	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AATTTAAGACCATTTATATGT	0.343000													30	50					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100252710	100252710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100252710C>T	ENST00000160382.5	-	4	407	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	101					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TAGGTGTGATCCAGGATGGCT	0.597000													17	16					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10822290	10822290	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:10822290G>A	ENST00000526148.1	-	16	2142	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L544L|EIF4G2_ENST00000396525.2_Silent_p.L506L|EIF4G2_ENST00000525681.1_Silent_p.L544L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	544	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTAGTTTAAGGAGTTCTTCCT	0.383000													9	50					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130694321	130694321	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:130694321C>A	ENST00000510168.1	+	18	2109	c.1559C>A	c.(1558-1560)gCg>gAg	p.A520E	ATP2C1_ENST00000422190.2_Missense_Mutation_p.A520E|ATP2C1_ENST00000513801.1_Missense_Mutation_p.A504E|ATP2C1_ENST00000504948.1_Missense_Mutation_p.A504E|ATP2C1_ENST00000393221.4_Missense_Mutation_p.A554E|ATP2C1_ENST00000533801.2_Missense_Mutation_p.A515E|ATP2C1_ENST00000504381.1_Missense_Mutation_p.A465E|ATP2C1_ENST00000507488.2_Missense_Mutation_p.A504E|ATP2C1_ENST00000508532.1_Missense_Mutation_p.A520E|ATP2C1_ENST00000428331.2_Missense_Mutation_p.A520E|ATP2C1_ENST00000505330.1_Missense_Mutation_p.A504E|ATP2C1_ENST00000328560.8_Missense_Mutation_p.A520E|ATP2C1_ENST00000359644.3_Missense_Mutation_p.A520E			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	520					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATGGGCTCAGCGGGACTCAGA	0.473000									Hailey-Hailey disease				7	23					0.00307968	0.00308826	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179564869	179564869	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:179564869G>A	ENST00000444136.1	+	4	997	c.747G>A	c.(745-747)ccG>ccA	p.P249P	TDRD5_ENST00000367614.1_Silent_p.P249P|TDRD5_ENST00000294848.8_Silent_p.P249P	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	249					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGAACCACCGAAGCAAATAA	0.398000													29	60					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76249582	76249582	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:76249582C>T	ENST00000298832.9	+	26	2900	c.2695C>T	c.(2695-2697)Cat>Tat	p.H899Y	TTLL5_ENST00000554510.1_Missense_Mutation_p.H408Y|TTLL5_ENST00000556893.1_Missense_Mutation_p.H450Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.H913Y|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	899					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCCAACACCCATTTGTCATC	0.443000													19	71					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167671462	167671462	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:167671462G>A	ENST00000519204.1	+	25	5313	c.5195G>A	c.(5194-5196)cGa>cAa	p.R1732Q	TENM2_ENST00000545108.1_Missense_Mutation_p.R1852Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R1677Q|TENM2_ENST00000518659.1_Missense_Mutation_p.R1853Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R1614Q					teneurin transmembrane protein 2																		GACTATGATCGAAATATTCGG	0.507000													5	16					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104868	5104868	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:5104868C>T	ENST00000396912.1	+	5	2300	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.P594L|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	594	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GGCGAGAAACCCTATGAATGT	0.378000													5	22					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069818	79069818	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79069818C>T	ENST00000388820.4	-	9	1645	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	479	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGTAGGCCCCGTACTGGAGG	0.652000													7	17					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128094858	128094858	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:128094858T>A	ENST00000470056.1	+	13	2538	c.2378T>A	c.(2377-2379)tTt>tAt	p.F793Y	GAPVD1_ENST00000394105.2_Missense_Mutation_p.F793Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.F793Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.F793Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.F772Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.F793Y|GAPVD1_ENST00000495955.1_Missense_Mutation_p.F793Y|GAPVD1_ENST00000312123.9_Missense_Mutation_p.F772Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	793					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTCTGATTTTGGGGGTAAA	0.398000													15	49					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2762732	2762732	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2762732G>A	ENST00000302641.3	-	6	816	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GGTTCTGGCGGGCACAGCCCT	0.682000													3	7					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39644581	39644581	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39644581C>T	ENST00000393986.2	-	4	675	c.463G>A	c.(463-465)Gag>Aag	p.E155K	KRT36_ENST00000328119.6_Missense_Mutation_p.E205K			O76013	KRT36_HUMAN	keratin 36	205	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				AGGGTCAGCTCATCCAGGATC	0.592000													53	58					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405654	50405654	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:50405654C>T	ENST00000435965.1	-	25	2252	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	CACNA2D2_ENST00000424201.2_Silent_p.K686K|CACNA2D2_ENST00000423994.2_Silent_p.K693K|CACNA2D2_ENST00000266039.3_Silent_p.K686K|CACNA2D2_ENST00000360963.3_Silent_p.K617K|CACNA2D2_ENST00000429770.1_Silent_p.K686K|CACNA2D2_ENST00000395083.1_Silent_p.K686K|CACNA2D2_ENST00000479441.1_Silent_p.K693K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	693					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATTCAGGTCCTTGCAGTACT	0.552000													42	55					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547193	43547193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:43547193C>T	ENST00000400427.1	+	18	3935	c.3539C>T	c.(3538-3540)cCc>cTc	p.P1180L	UMODL1_ENST00000408989.2_Missense_Mutation_p.P1252L|UMODL1_ENST00000408910.2_Missense_Mutation_p.P1124L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P1052L|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1124	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGACTCTCCCATACCTCAG	0.522000													9	47					0	0	1	0	0
BCAS2	10286	broad.mit.edu	37	1	115118354	115118354	+	Silent	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:115118354G>T	ENST00000369541.3	-	4	323	c.276C>A	c.(274-276)ccC>ccA	p.P92P	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	92					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCAGAGGAGGGGGCTGGAA	0.383000													14	29					1.5842e-08	1.602e-08	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50720702	50720702	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50720702G>A	ENST00000449103.1	-	19	3168	c.3028C>T	c.(3028-3030)Ctg>Ttg	p.L1010L	PLXNB2_ENST00000359337.4_Silent_p.L1010L			O15031	PLXB2_HUMAN	plexin B2	1010	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTGGATCAGGCTGAAGCCC	0.687000													18	94					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577572	33577572	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:33577572G>A	ENST00000262873.7	+	18	1835	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	539	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCTGGAGGAGGAATGCATGT	0.592000													10	49					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50941960	50941960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50941960G>A	ENST00000216080.5	-	14	2077	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	LMF2_ENST00000380796.3_Missense_Mutation_p.R549W|LMF2_ENST00000474879.2_Missense_Mutation_p.R662W			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	662						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGAGGACCGGAGAGAACAG	0.687000													10	20					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134346364	134346364	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:134346364C>T	ENST00000357304.4	+	13	2156	c.2101C>T	c.(2101-2103)Ccc>Tcc	p.P701S	PRRC2B_ENST00000405995.1_Missense_Mutation_p.P701S|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P701S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	701							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGCCCTGCATCCCTCAGGTAA	0.567000													10	23					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7480456	7480456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:7480456C>T	ENST00000399429.3	-	21	1827	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	563	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCCTCTGTCCTTGATTTCCT	0.398000													14	63					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402307	67402307	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:67402307G>A	ENST00000335385.3	-	3	444	c.357C>T	c.(355-357)ccC>ccT	p.P119P		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	119					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGTCGTCCAGGGGGATGAAGT	0.627000													13	51					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904339	144904339	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:144904339C>T	ENST00000370490.1	+	1	4651	c.396C>T	c.(394-396)ggC>ggT	p.G132G	SLITRK2_ENST00000413937.2_Silent_p.G132G|SLITRK2_ENST00000428560.2_Silent_p.G132G|SLITRK2_ENST00000434188.2_Silent_p.G132G|SLITRK2_ENST00000447897.2_Silent_p.G132G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	132						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCCTAGGCCTGGAGAGCC	0.502000													31	12					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332660	99332660	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99332660C>T	ENST00000336374.2	-	1	59	c.57G>A	c.(55-57)ctG>ctA	p.L19L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	19					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L19L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGAGGAGTATCAGGCTGACAG	0.463000													41	55					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42629149	42629149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:42629149C>T	ENST00000330333.6	+	8	1662	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	BACE2_ENST00000328735.6_Intron|BACE2_ENST00000347667.4_Missense_Mutation_p.P350L|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	400					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGCATTTCCCCATCCACAAAT	0.542000													12	42					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56757303G>A	ENST00000326855.2	+	1	957	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000													3	19					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004365	145004365	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:145004365G>A	ENST00000322810.4	-	21	3139	c.2970C>T	c.(2968-2970)tcC>tcT	p.S990S	PLEC_ENST00000354958.2_Silent_p.S831S|PLEC_ENST00000436759.2_Silent_p.S880S|PLEC_ENST00000345136.3_Silent_p.S853S|PLEC_ENST00000356346.3_Silent_p.S839S|PLEC_ENST00000527096.1_Silent_p.S876S|PLEC_ENST00000398774.2_Silent_p.S821S|PLEC_ENST00000357649.2_Silent_p.S857S|PLEC_ENST00000354589.3_Silent_p.S853S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	990	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAAGCACACGGAGGGCACGG	0.721000													4	12					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139135	90139135	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:90139135G>A	ENST00000492446.1	+	0	58																											TCAGCTCCTGGGGCTCCTGCT	0.517000													8	112					0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16357074	16357074	+	Splice_Site	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:16357074T>G	ENST00000399336.4	+	13	1709		c.e13+2		NOMO3_ENST00000263012.6_Splice_Site|NOMO3_ENST00000538468.1_Splice_Site	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3							integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTGTTTGGGTAAGATATCAC	0.438000													47	61					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396796	396796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:396796G>A	ENST00000262320.3	-	2	601	c.230C>T	c.(229-231)tCc>tTc	p.S77F	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.S77F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	77					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.S77F(2)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGGGGTGGGGGAGGCACTGCC	0.582000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	17					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179605524	179605524	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:179605524C>T	ENST00000467460.1	-	4	577	c.247G>A	c.(247-249)Gat>Aat	p.D83N	PEX5L_ENST00000465751.1_Missense_Mutation_p.D59N|PEX5L_ENST00000464614.1_Missense_Mutation_p.D40N|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.D81N|PEX5L_ENST00000485199.1_Missense_Mutation_p.D48N|PEX5L_ENST00000476138.1_Missense_Mutation_p.D40N|PEX5L_ENST00000472994.1_Missense_Mutation_p.D24N|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.D40N	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	83					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGAAAGTCATCGATGGAGGGA	0.443000													31	111					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39411728	39411728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39411728C>T	ENST00000361441.3	+	2	426	c.146C>T	c.(145-147)tCc>tTc	p.S49F	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	49					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					TCAGTTGTCTCCTGGAAGACG	0.478000													37	79					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17779846	17779846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:17779846C>T	ENST00000378814.5	-	31	3876	c.3877G>A	c.(3877-3879)Gaa>Aaa	p.E1293K	KIF13A_ENST00000378843.2_Missense_Mutation_p.E1293K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1306K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1306K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1306K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1306					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GATACTATTTCATAGGTTACA	0.403000													11	44					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41420107	41420107	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:41420107C>T	ENST00000373198.3	-	3	450		c.e3-1		PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAAGATCCTGGAGACCCA	0.507000													4	5					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703553	165703553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:165703553G>A	ENST00000230301.8	-	7	1144	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	375										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTCTCAGATGATTCTGGAAA	0.279000													5	9					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14562766	14562766	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:14562766C>T	ENST00000242783.6	+	7	1261	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PKN1_ENST00000342216.4_Missense_Mutation_p.R372W	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	366	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCGCCCAGCCCGGGGCCTTTA	0.662000													6	19					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080082	5080082	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5080082G>A	ENST00000321522.2	-	1	775	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCATAAAGGAAAAGAGGGC	0.473000													15	27					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41186276	41186276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41186276C>T	ENST00000263413.3	-	6	886	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	C6_ENST00000337836.5_Missense_Mutation_p.V208I|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	208	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTATCAAGGACTTCTCCTCTG	0.383000													10	42					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27069111	27069111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:27069111G>A	ENST00000261191.7	-	11	1608	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	ASUN_ENST00000539625.1_Missense_Mutation_p.R257C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	358					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AAAACAGAACGACCTGTCAAA	0.343000													4	16					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924661	166924661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:166924661G>A	ENST00000061240.2	+	6	1398	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TLL1_ENST00000507499.1_Missense_Mutation_p.E251K|TLL1_ENST00000513213.1_Missense_Mutation_p.E251K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	251	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTTGGCATGAACACACAAG	0.448000													8	30					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76026867	76026867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:76026867C>T	ENST00000275560.3	-	6	1183	c.836G>A	c.(835-837)gGc>gAc	p.G279D	ZP3_ENST00000336517.4_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	279	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTCGTGGTGGCCGCAGTTGTG	0.726000													14	8					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977133	30977133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30977133C>T	ENST00000262519.8	+	8	2617	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652000													20	16					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913481	87913481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87913481C>T	ENST00000380079.4	-	2	205	c.104G>A	c.(103-105)gGa>gAa	p.G35E	STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	35					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413000													11	55					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950174	27950174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:27950174C>T	ENST00000379992.2	-	6	945	c.496G>A	c.(496-498)Gtt>Att	p.V166I	LINGO2_ENST00000308675.3_Missense_Mutation_p.V166I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	166						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GATATATAAACCAAATCATTG	0.423000													6	7					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961444	1961444	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:1961444T>G	ENST00000217305.2	-	4	515	c.290A>C	c.(289-291)aAg>aCg	p.K97T	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.K97T|PDYN_ENST00000540134.1_Missense_Mutation_p.K97T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	97					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGAGAGCTTGGCCAGCTC	0.532000													28	43					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98080535	98080535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:98080535G>A	ENST00000419175.1	+	4	838	c.668G>A	c.(667-669)gGt>gAt	p.G223D	DNTT_ENST00000371174.2_Missense_Mutation_p.G223D	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	223	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAGGTGAAGGGTATCATAGAG	0.463000													28	27					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21427614	21427614	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:21427614G>A	ENST00000313654.9	+	32	4359	c.4118G>A	c.(4117-4119)cGg>cAg	p.R1373Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1373Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1373	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTGTGACCGGGACAGCGGG	0.622000													8	12					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839938	25839938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:25839938C>T	ENST00000376351.3	+	6	1797	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	480						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGCACATTTCGCTGTATTCT	0.413000													21	58					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22428684	22428684	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:22428684C>T	ENST00000240123.7	+	18	2076	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C	SORBS3_ENST00000428103.1_Missense_Mutation_p.R223C	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	565					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACCTCCCCCCGTCGCACTGG	0.697000													9	35					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122413481	122413481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:122413481C>T	ENST00000288912.4	+	19	3750	c.2896C>T	c.(2896-2898)Cgc>Tgc	p.R966C		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	966							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TTCTCAGCTCCGCAGTCAAGG	0.438000													13	27					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72427589	72427589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:72427589G>A	ENST00000477973.1	-	4	898	c.899C>T	c.(898-900)cCg>cTg	p.P300L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGGAGGAACGGGAGGAGCCC	0.502000													8	10					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606080	116606080	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:116606080C>T	ENST00000369248.4	+	10	1687	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P451L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	451										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AGCAGACATCCTTTAAGGCAT	0.378000													25	33					0	0	1	0	0
MIR518F	574472	broad.mit.edu	37	19	54203316	54203316	+	RNA	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:54203316G>T	ENST00000384973.1	+	0	48					NR_030194.1																						TTGTCTAAAAGAAAAGAAAGC	0.388000													9	43					0.00621372	0.00622607	1	1	0
STEAP4	79689	broad.mit.edu	37	7	87913477	87913477	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87913477C>T	ENST00000380079.4	-	2	209	c.108G>A	c.(106-108)ttG>ttA	p.L36L	STEAP4_ENST00000301959.5_Silent_p.L36L|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Silent_p.L36L|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	36					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGAGCATTTTCAATCCCAGTG	0.413000													24	45					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103827386	103827386	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:103827386C>T	ENST00000299238.5	+	1	2240	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	719						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGTGGGGCCCCCAACCCCATT	0.642000									Hermansky-Pudlak syndrome				29	39					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149691194	149691194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:149691194C>T	ENST00000367456.1	+	3	638	c.61C>T	c.(61-63)Cct>Tct	p.P21S	TAB2_ENST00000538427.1_Missense_Mutation_p.P21S|TAB2_ENST00000536230.1_Intron|TAB2_ENST00000392282.1_Missense_Mutation_p.P21S|TAB2_ENST00000286332.5_Missense_Mutation_p.P21S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	21	CUE.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACAAAAATTCCCTGAAGTACC	0.378000													9	8					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018355	58018355	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:58018355T>G	ENST00000379218.2	+	10	1611	c.1300T>G	c.(1300-1302)Ttc>Gtc	p.F434V	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Intron			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGGTGTGGTCTTCTCCATGAT	0.592000													5	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13886106	13886106	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13886106C>T	ENST00000265104.4	-	18	2814	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	904	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACACTATTCTCATTGGATATT	0.318000									Kartagener syndrome				13	26					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810583	140810583	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:140810583G>A	ENST00000509479.2	-	2	2863	c.2007C>T	c.(2005-2007)cgC>cgT	p.R669R	MAML3_ENST00000398940.1_Silent_p.R197R|MAML3_ENST00000327122.5_Silent_p.R513R	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	665	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGAAGCAGGCGTTTCTGGT	0.572000													13	35					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58953768	58953768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:58953768C>T	ENST00000423743.3	+	23	3314	c.3056C>T	c.(3055-3057)cCt>cTt	p.P1019L	KIAA0586_ENST00000261244.5_Missense_Mutation_p.P987L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P1048L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P1116L|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	987										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTACGCCTCCTTGCTCACCT	0.413000													37	19					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134225241	134225241	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:134225241C>T	ENST00000250160.6	+	2	310	c.204C>T	c.(202-204)ctC>ctT	p.L68L	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Silent_p.L68L|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.L68L	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	68	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGGTCAGCCTCATCACAGATG	0.647000													20	23					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54935974	54935974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:54935974G>A	ENST00000284061.3	+	9	1412	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	411					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTATTCTATGGAACCAAAGAT	0.284000													27	32					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471681	131471681	+	Missense_Mutation	SNP	G	G	A	rs148148477		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:131471681G>A	ENST00000261654.5	+	6	1091	c.532G>A	c.(532-534)Gag>Aag	p.E178K	GPR133_ENST00000535015.1_Missense_Mutation_p.E210K	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	178					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E178K(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAAATCCAAGGAGGGCCTGAA	0.512000													19	44					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47226080	47226080	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:47226080G>A	ENST00000391910.3	-	14	2364	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	STRN4_ENST00000539396.1_Silent_p.S512S|STRN4_ENST00000263280.6_Silent_p.S631S			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	631						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTGCCCCGGGACTCCAGCG	0.627000													30	73					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158266	139158266	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139158266T>C	ENST00000395297.1	-	15	3646	c.3476A>G	c.(3475-3477)aAg>aGg	p.K1159R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1159										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TATGAAAGTCTTTACCAGCCG	0.438000										HNSCC(54;0.14)			10	36					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643027	1643027	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1643027C>T	ENST00000399682.1	-	1	341	c.297G>A	c.(295-297)ggG>ggA	p.G99G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	99	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAGCCCCCCTTGGAAC	0.682000													19	125					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305627	46305627	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:46305627C>T	ENST00000510861.1	-	8	879	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	GABRA2_ENST00000356504.1_Missense_Mutation_p.E236K|GABRA2_ENST00000515082.1_Missense_Mutation_p.E236K|GABRA2_ENST00000507069.1_Missense_Mutation_p.E236K|GABRA2_ENST00000381620.4_Missense_Mutation_p.E236K|GABRA2_ENST00000514090.1_Missense_Mutation_p.E236K|GABRA2_ENST00000540012.1_Missense_Mutation_p.E181K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	236					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACAGTATATTCACCTGGAAGA	0.343000													8	34					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41974862	41974862	+	Silent	SNP	G	G	A	rs999980		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:41974862G>A	ENST00000216259.7	-	6	582	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	166					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GGGCTTCCACGAACTTCTCCC	0.617000													11	32					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163360988	163360988	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:163360988C>T	ENST00000332142.5	-	6	1192	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D358N|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	365					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTGTTCGATCTTTAACCTTG	0.373000													26	66					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630614	54630614	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54630614G>A	ENST00000545554.1	+	16	4640	c.4640G>A	c.(4639-4641)aGg>aAg	p.R1547K	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1545K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R1547K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1547					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACTGTGTAAGGGCTTGCCTG	0.423000													17	72					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627611	64627611	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:64627611G>A	ENST00000498707.1	-	12	2111	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S562F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	590	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		ACTTCCCCAGGATCCATCTGT	0.488000													31	43					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954357	75954357	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:75954357C>T	ENST00000274364.6	+	21	2691	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	IQGAP2_ENST00000379730.3_Silent_p.F300F|IQGAP2_ENST00000396234.3_Silent_p.F294F|IQGAP2_ENST00000502745.1_Silent_p.F294F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	798					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATTTGGATTTCCAGGAGGAAC	0.438000													17	30					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948621	948621	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:948621G>A	ENST00000217260.4	-	2	336	c.240C>T	c.(238-240)atC>atT	p.I80I	RSPO4_ENST00000400634.2_Silent_p.I80I	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	80					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCTGGCCGCGGATGCCGAAGT	0.597000													36	35					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528464	7528464	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7528464C>T	ENST00000313599.3	-	10	2575	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D840N|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.D850N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	840	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GATATGGCATCTCCACAGTTT	0.453000													18	37					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55220290	55220290	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:55220290C>T	ENST00000275493.2	+	6	857	c.680C>T	c.(679-681)tCc>tTc	p.S227F	EGFR_ENST00000442591.1_Missense_Mutation_p.S227F|EGFR_ENST00000455089.1_Missense_Mutation_p.S182F|EGFR_ENST00000454757.2_Missense_Mutation_p.S174F|EGFR_ENST00000420316.2_Missense_Mutation_p.S227F|EGFR_ENST00000342916.3_Missense_Mutation_p.S227F|EGFR_ENST00000344576.2_Missense_Mutation_p.S227F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	227					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGTGGCAAGTCCCCCAGTGAC	0.612000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			83	134					0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297320	144297320	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144297320C>T	ENST00000330824.2	+	4	557	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	161					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGGGGCAGCTCCGAAACTGTG	0.697000													8	30					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344924	56344924	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:56344924C>T	ENST00000262290.4	+	12	2224	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	LPO_ENST00000421678.2_Silent_p.F553F|LPO_ENST00000582328.1_Silent_p.F553F|LPO_ENST00000543544.1_Silent_p.F577F	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	636					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCAAGCAGTTCCAGCAGATCC	0.642000													23	36					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154271221	154271221	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:154271221G>A	ENST00000240488.3	+	2	98	c.9G>A	c.(7-9)aaG>aaA	p.K3K	MND1_ENST00000503967.1_3'UTR|MND1_ENST00000504860.1_5'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	3					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TTTAGTCAAAGAAAAAAGGAC	0.279000													9	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9019313	9019313	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9019313C>T	ENST00000397910.4	-	23	37777	c.37574G>A	c.(37573-37575)gGa>gAa	p.G12525E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12527					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCTGAGGTTCCAAGGTCCAC	0.473000													4	14					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375782	104375782	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104375782G>A	ENST00000361820.3	-	6	3242	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	881					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGTCAATGGAGAGTTGGGTGG	0.458000													9	27					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38486081	38486081	+	Splice_Site	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:38486081A>G	ENST00000263409.4	-	17	2499	c.2335_splice	c.e17-1	p.G779_splice	LIFR_ENST00000453190.2_Splice_Site_p.G779_splice	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	779	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTCAGAACGACCTATTTTTA	0.398000			T	PLAG1	salivary adenoma								5	42					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11115918	11115918	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11115918G>A	ENST00000376957.2	-	6	765	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	229					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCCACCACGGGGAACAGGGAC	0.647000													6	15					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133899	74133899	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:74133899C>T	ENST00000322957.6	-	3	1155	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	267				GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729).	actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGCCTGCCCTCGCCTGCAC	0.746000													3	16					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100062792	100062792	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:100062792G>A	ENST00000508393.1	-	4	384	c.219C>T	c.(217-219)atC>atT	p.I73I	ADH4_ENST00000265512.7_Silent_p.I54I|ADH4_ENST00000423445.1_Silent_p.I73I|ADH4_ENST00000505590.1_Silent_p.I73I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000504581.1_5'UTR			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	54					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATTTAGAATCGATAACAGTGG	0.453000													11	29					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862642	10862642	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:10862642C>T	ENST00000559480.1	+	0	21																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ATTGGAGGATCCTGTTTTTGG	0.502000													19	199					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88483956	88483956	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:88483956G>A	ENST00000394480.1	-	15	1935	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	NTRK3_ENST00000357724.2_Silent_p.I530I|NTRK3_ENST00000558676.1_Silent_p.I530I|NTRK3_ENST00000355254.2_Silent_p.I538I|NTRK3_ENST00000557856.1_Silent_p.I530I|NTRK3_ENST00000542733.2_Silent_p.I440I|NTRK3_ENST00000360948.2_Silent_p.I538I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	538	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTTCAGCACGATGTCTCTCC	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			16	144					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5545545	5545545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:5545545C>T	ENST00000324331.6	+	5	1373	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	FARS2_ENST00000274680.4_Missense_Mutation_p.S346F			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	346					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TTCTGTGTATCCAACATTAAT	0.433000													56	102					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50902970	50902970	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50902970G>A	ENST00000380817.2	-	14	1812	c.1629C>T	c.(1627-1629)ccC>ccT	p.P543P	SBF1_ENST00000390679.3_Silent_p.P543P|SBF1_ENST00000348911.6_Silent_p.P544P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	543					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACTCATGGGGGGCCCTGAGG	0.677000													17	83					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59073706	59073706	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:59073706G>A	ENST00000215057.2	-	6	2498	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Silent_p.I646I	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	646					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCCCGTGTGGATGCGCTGGT	0.687000													5	8					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74976483	74976483	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:74976483G>A	ENST00000261978.4	-	21	3617	c.3231C>T	c.(3229-3231)gcC>gcT	p.A1077A	LTBP2_ENST00000556690.1_Silent_p.A1077A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1077	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGTTCTCACAGGCAGAGCAGG	0.582000													31	18					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30114962	30114962	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30114962G>A	ENST00000396581.1	+	4	1028	c.642G>A	c.(640-642)aaG>aaA	p.K214K	TRIM40_ENST00000307859.4_Silent_p.K185K|TRIM40_ENST00000376724.2_Silent_p.K214K			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	214						intracellular	zinc ion binding			ovary(1)	1						GGACGGCCAAGGAATTAGACA	0.562000													43	62					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186283	5186283	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:5186283C>T	ENST00000274181.7	+	5	1020	c.882C>T	c.(880-882)acC>acT	p.T294T	ADAMTS16_ENST00000511368.1_Silent_p.T294T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	294	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACGTGGAGACCTTGGTGGTGG	0.458000													37	40					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977718	46977718	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:46977718C>T	ENST00000371956.4	+	4	716	c.701C>T	c.(700-702)tCc>tTc	p.S234F	DMBX1_ENST00000360032.3_Missense_Mutation_p.S229F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	234					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTTGCAGATTCCCCAGGCAGC	0.612000													61	224					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678489	100678489	+	Silent	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100678489A>G	ENST00000306151.4	+	3	3856	c.3792A>G	c.(3790-3792)gaA>gaG	p.E1264E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1264	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACCGCTGAAGGTACCAGCT	0.522000													74	325					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186283764	186283764	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:186283764G>A	ENST00000504273.1	+	18	2635		c.e18-1		SNX25_ENST00000512853.1_Splice_Site|SNX25_ENST00000264694.8_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TAATTTTTCAGATATGCTTCA	0.368000													5	170					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47981686	47981686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:47981686C>T	ENST00000318711.7	+	34	4243	c.4060C>T	c.(4060-4062)Ccg>Tcg	p.P1354S	DIP2A_ENST00000417564.2_Missense_Mutation_p.P1353S|DIP2A_ENST00000400274.1_Missense_Mutation_p.P1349S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1353					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACGGGGTTCTCCGCACAGCCT	0.473000													43	112					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365992	88365992	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:88365992C>T	ENST00000518476.1	+	10	1332	c.1281C>T	c.(1279-1281)atC>atT	p.I427I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	427										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGATGGCAATCATTGAAGATA	0.318000													9	19					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073051	15073051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15073051C>T	ENST00000598504.1	-	8	2057	c.698G>A	c.(697-699)gGa>gAa	p.G233E	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G169E|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G233E|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G233E|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G233E	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	233					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGCTGGTTCCGTTCTCCAC	0.592000													21	46					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151866309	151866309	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:151866309G>A	ENST00000355193.2	-	41	9697	c.9479C>T	c.(9478-9480)tCt>tTt	p.S3160F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S3160F					lysine (K)-specific methyltransferase 2C																		ATTAGGCCTAGAAATCTGATG	0.333000													26	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074385	9074385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9074385G>A	ENST00000397910.4	-	3	13264	c.13061C>T	c.(13060-13062)tCa>tTa	p.S4354L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4356	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAGGGCTTGAGATGGATGT	0.458000													4	17					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137665301	137665301	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:137665301A>C	ENST00000323760.6	-	3	508	c.230T>G	c.(229-231)cTt>cGt	p.L77R	CDC25C_ENST00000356505.3_Missense_Mutation_p.L77R|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000514555.1_Missense_Mutation_p.L77R|CDC25C_ENST00000513970.1_Missense_Mutation_p.L77R|CDC25C_ENST00000415130.2_Intron	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	77					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCACTGCTAAGATTCGAAAG	0.418000													47	53					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184791	105184791	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:105184791C>T	ENST00000369797.3	+	20	2908	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	938					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGAGAAGTCCTTTGCCATTG	0.537000													16	50					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135712018	135712018	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:135712018C>T	ENST00000264157.5	+	9	2023	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S	CCNT2_ENST00000537343.1_Intron|CCNT2_ENST00000295238.6_Intron	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	665	Poly-Pro.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TTTTAACCATCCCTTACCCCC	0.483000													38	19					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26707403	26707403	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:26707403T>A	ENST00000272371.2	-	12	1270	c.1144A>T	c.(1144-1146)Aaa>Taa	p.K382*	OTOF_ENST00000403946.3_Nonsense_Mutation_p.K382*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	382					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTCCCCTTTGCCCACCACG	0.597000													6	13					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360859	52360859	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52360859C>T	ENST00000420323.2	+	5	951	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	230	Stem (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)		ACCCCCAAACCATCGAACAGG	0.587000													4	19					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3002450	3002450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:3002450C>A	ENST00000262953.6	-	18	2210	c.1948G>T	c.(1948-1950)Gag>Tag	p.E650*	TLE2_ENST00000591529.1_Nonsense_Mutation_p.E664*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.E664*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.E651*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Nonsense_Mutation_p.E528*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.E528*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.E317*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	650					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTACTCTCCATTCCGACC	0.592000													4	7					1	1	1	1	0
UBR4	23352	broad.mit.edu	37	1	19449390	19449390	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19449390G>A	ENST00000375267.2	-	66	9756	c.9753C>T	c.(9751-9753)ctC>ctT	p.L3251L	UBR4_ENST00000375254.3_Silent_p.L3251L|UBR4_ENST00000375217.2_Silent_p.L3244L|UBR4_ENST00000375226.2_Silent_p.L3227L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3251					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACTTGCCCGGAGGAATATCC	0.592000													26	46					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185017	130185017	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:130185017G>A	ENST00000422113.2	-	2	632	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	102						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCACTTGCTCGATGGAGAAAG	0.502000													7	19					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6182295	6182295	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:6182295C>A	ENST00000264870.3	-	11	1650	c.1385G>T	c.(1384-1386)gGg>gTg	p.G462V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	462					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AATTAATTTCCCAATGTGGGT	0.408000													10	47					4.68919e-08	4.73428e-08	1	1	0
RSPO1	284654	broad.mit.edu	37	1	38078583	38078583	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:38078583C>T	ENST00000356545.2	-	8	1423	c.636G>A	c.(634-636)agG>agA	p.R212R	RSPO1_ENST00000373059.1_Silent_p.R185R|RSPO1_ENST00000401068.1_Silent_p.R212R|RSPO1_ENST00000401069.1_Silent_p.R212R|RSPO1_ENST00000401070.1_Silent_p.R149R|RSPO1_ENST00000401071.2_Silent_p.R149R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	212					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCCTTCCTCCTCTTCTGCC	0.622000													22	41					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62542648	62542648	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:62542648C>T	ENST00000512091.1	+	5	1121	c.374C>T	c.(373-375)cCt>cTt	p.P125L	LPHN3_ENST00000504896.1_Missense_Mutation_p.P125L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P193L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P193L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P193L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P125L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P125L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P193L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P125L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P193L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P193L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P125L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P125L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P125L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P193L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAATGTGTCCCTTACAGTATG	0.383000													25	99					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9785072	9785072	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:9785072G>A	ENST00000304374.2	+	1	1815	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	473					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P473P(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTCACCCCGAATGGATTCC	0.488000													21	9					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190195350	190195350	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:190195350C>T	ENST00000367462.3	-	6	1054	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	FAM5C_ENST00000534846.1_Missense_Mutation_p.E173K|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		275						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGTCATTTTCCTTGCAGATA	0.448000													20	35					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69358572	69358572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:69358572G>A	ENST00000337103.4	+	2	1743	c.151G>A	c.(151-153)Gga>Aga	p.G51R	C8orf34_ENST00000523686.1_Missense_Mutation_p.G76R|C8orf34_ENST00000539993.1_Missense_Mutation_p.G76R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G162R|C8orf34_ENST00000348340.2_Missense_Mutation_p.G76R|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	76					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGAATCCAAAGGAACAAGAAG	0.318000													10	44					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875362	30875362	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:30875362G>A	ENST00000454381.3	-	11	1079	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	GADL1_ENST00000282538.5_Missense_Mutation_p.L345F			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	345					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTTTCACAAGGAGAGCACAG	0.493000													17	18					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895328	26895328	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:26895328C>T	ENST00000407690.1	-	9	1354	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	TFIP11_ENST00000407431.1_Silent_p.E357E|TFIP11_ENST00000407148.1_Silent_p.E357E|TFIP11_ENST00000405938.1_Silent_p.E357E	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	357					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CGGTCATCTTCTCCAGCTCGT	0.602000													48	33					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595382	2595382	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2595382C>T	ENST00000399655.1	+	6	1135	c.870C>T	c.(868-870)ttC>ttT	p.F290F	CACNA1C_ENST00000399597.1_Silent_p.F290F|CACNA1C_ENST00000399649.1_Silent_p.F290F|CACNA1C_ENST00000399629.1_Silent_p.F290F|CACNA1C_ENST00000344100.3_Silent_p.F290F|CACNA1C_ENST00000335762.5_Silent_p.F290F|CACNA1C_ENST00000480911.1_Silent_p.F290F|CACNA1C_ENST00000399637.1_Silent_p.F290F|CACNA1C_ENST00000327702.7_Silent_p.F290F|CACNA1C_ENST00000399603.1_Silent_p.F290F|CACNA1C_ENST00000347598.4_Silent_p.F290F|CACNA1C_ENST00000399601.1_Silent_p.F290F|CACNA1C_ENST00000399617.1_Silent_p.F290F|CACNA1C_ENST00000399621.1_Silent_p.F290F|CACNA1C_ENST00000399634.1_Silent_p.F290F|CACNA1C_ENST00000399606.1_Silent_p.F290F|CACNA1C_ENST00000399638.1_Silent_p.F290F|CACNA1C_ENST00000399644.1_Silent_p.F290F|CACNA1C_ENST00000399591.1_Silent_p.F290F|CACNA1C_ENST00000399595.1_Silent_p.F290F|CACNA1C_ENST00000399641.1_Silent_p.F290F|CACNA1C_ENST00000402845.3_Silent_p.F290F|CACNA1C_ENST00000406454.3_Silent_p.F290F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	290					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGAGCTCTTCATGGGGAAGA	0.582000													13	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557000		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)			13	6					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993911	75993911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:75993911G>A	ENST00000274364.6	+	33	4603	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K	IQGAP2_ENST00000379730.3_Missense_Mutation_p.E938K|IQGAP2_ENST00000396234.3_Missense_Mutation_p.E932K|IQGAP2_ENST00000502745.1_Missense_Mutation_p.E932K|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1436					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCATTTTATGAAGAGCAAAT	0.328000													5	22					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11521455	11521455	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:11521455C>T	ENST00000423059.3	-	7	2228	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	659	TSP type-1 6.					integral to membrane				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)		GTGCTCGTATCTGTTTCCCTT	0.522000										HNSCC(18;0.044)			18	52					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113420516	113420516	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:113420516A>T	ENST00000272542.3	+	11	2493	c.1954A>T	c.(1954-1956)Atg>Ttg	p.M652L		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	652					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAACATTTTTATGGCCTGGTT	0.473000													21	52					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289062	67289062	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:67289062C>T	ENST00000299798.11	+	3	694	c.629C>T	c.(628-630)tCc>tTc	p.S210F	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	210					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TTTGGCGAGTCCCTGCTCAAC	0.587000													38	17					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121320	38121320	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:38121320C>T	ENST00000406386.3	+	7	3012	c.2757C>T	c.(2755-2757)ccC>ccT	p.P919P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	919					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTGATGGTCCCCGAACCTCTT	0.582000													33	114					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124746350	124746350	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:124746350G>A	ENST00000311127.4	-	3	679	c.610_splice	c.e3-1	p.A204_splice		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	204						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACTTTCTGAGGCTGAAAACA	0.418000													7	24					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2965252	2965252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:2965252C>T	ENST00000602557.1	-	46	7381	c.6826G>A	c.(6826-6828)Gat>Aat	p.D2276N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D2276N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2276N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D2276N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2275N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2276	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCGAAATCATCATCCTCA	0.348000													18	31					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705509	30705509	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:30705509G>A	ENST00000256246.2	-	1	1099	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	342										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAGTGCTGAGGATGCTTTTG	0.368000													15	13					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52870054	52870054	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:52870054A>T	ENST00000356971.3	-	15	2281	c.1792T>A	c.(1792-1794)Ttc>Atc	p.F598I	ICK_ENST00000350082.5_Missense_Mutation_p.F598I	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	598				FH -> LD (in Ref. 1; AAF37278).	intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGGGTGTGGAAGAATGGTCGC	0.562000													18	29					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113357	94113357	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:94113357C>T	ENST00000243673.2	-	4	1401	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	GPR83_ENST00000539203.2_Silent_p.K368K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	410						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACAGGTCTGTCTTCCCAGACT	0.562000													13	22					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119937894	119937894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:119937894G>A	ENST00000327554.2	+	6	1034	c.569G>A	c.(568-570)gGa>gAa	p.G190E	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	190										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCCGGGTGGAAGCAAGAGC	0.423000													22	70					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895555	42895555	+	Missense_Mutation	SNP	G	G	A	rs113203706		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:42895555G>A	ENST00000399770.2	+	1	272	c.272G>A	c.(271-273)gGt>gAt	p.G91D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	91			G -> V.		cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTGAGAAGGGTTTTGGTACA	0.458000													38	50					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919362	130919362	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:130919362C>T	ENST00000261655.4	-	11	2282	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E615K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E615K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	707						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAGGCGTCCTCCTCGTCTGAG	0.602000													58	70					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28459414	28459414	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:28459414G>A	ENST00000261609.7	-	41	6471	c.6363C>T	c.(6361-6363)tcC>tcT	p.S2121S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2121					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTCAGCGTGGACTCTGAGG	0.672000													16	34					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134084701	134084701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:134084701G>A	ENST00000514516.1	-	5	1589	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	AMOTL2_ENST00000513145.1_Nonsense_Mutation_p.Q413*|AMOTL2_ENST00000422605.2_Nonsense_Mutation_p.Q413*|AMOTL2_ENST00000249883.5_Nonsense_Mutation_p.Q413*	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	413										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCCGGCCTGGGCCTCCTGT	0.567000													30	64					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112536282	112536282	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:112536282C>T	ENST00000341068.3	-	45	6127	c.5355G>A	c.(5353-5355)gaG>gaA	p.E1785E		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1785					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CAGGCAACATCTCTGGGGTCT	0.393000													6	42					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21209916	21209916	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:21209916C>T	ENST00000592179.1	-	6	584		c.e6-1		ANKRD29_ENST00000284207.7_Splice_Site|ANKRD29_ENST00000322980.9_Splice_Site	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29											breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGCTCCATCCTGAGAGAGAA	0.448000													8	8					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019668	123019668	+	Silent	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:123019668T>C	ENST00000371199.3	+	2	455	c.156T>C	c.(154-156)ttT>ttC	p.F52F	XIAP_ENST00000355640.3_Silent_p.F52F|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Silent_p.F52F	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	52					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAGCAGGGTTTCTTTATACTG	0.413000									X-linked Lymphoproliferative syndrome				34	21					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48468176	48468176	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:48468176G>A	ENST00000004980.5	-	8	1349	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	SENP1_ENST00000549595.1_Missense_Mutation_p.H291Y|SENP1_ENST00000551330.1_Missense_Mutation_p.H291Y|SENP1_ENST00000448372.1_Missense_Mutation_p.H291Y|SENP1_ENST00000549518.1_Missense_Mutation_p.H291Y|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	291	His-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGGGGATGATGAAGAGTA	0.388000													17	86					0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71522180	71522180	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71522180C>T	ENST00000254801.4	-	4	515	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	IGJ_ENST00000543780.1_Missense_Mutation_p.E132K|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	116					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			GCACTGTCTTCATCACAGATA	0.418000													15	40					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598271	49598271	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:49598271C>T	ENST00000527477.1	+	0	875																											CCATTCAGGTCCAGAATTTGC	0.483000													7	20					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96384281	96384281	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:96384281C>T	ENST00000261208.3	-	10	1113	c.745G>A	c.(745-747)Gga>Aga	p.G249R	HAL_ENST00000538703.1_Missense_Mutation_p.G249R|HAL_ENST00000541929.1_Missense_Mutation_p.G41R|HAL_ENST00000551562.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	249					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CCAACGGTTCCTTTCTCTGGG	0.542000													23	25					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10446214	10446214	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10446214C>T	ENST00000245503.5	-	10	1266	c.882G>A	c.(880-882)tcG>tcA	p.S294S	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.S294S|MYH2_ENST00000397183.2_Silent_p.S294S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	294	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTTCTTATTCGATGTAATCT	0.343000													5	10					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22707215	22707215	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:22707215G>A	ENST00000454584.2	+	3	452	c.145_splice	c.e3-1	p.G49_splice	GAS2_ENST00000278187.3_Splice_Site_p.G49_splice|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Splice_Site_p.G49_splice	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	49	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTATTTCAGGGAAGGAGATTA	0.343000													15	49					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869279	200869279	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:200869279A>T	ENST00000367342.4	+	4	683	c.483A>T	c.(481-483)gaA>gaT	p.E161D	C1orf106_ENST00000413687.2_Missense_Mutation_p.E76D	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	161										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AACCAGGGGAAAAGGCCCCCA	0.622000													10	26					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705455	40705455	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40705455C>T	ENST00000372771.4	+	8	5108	c.5081C>T	c.(5080-5082)cCt>cTt	p.P1694L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1694					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCTCCTCCTCCTTGTAAAATA	0.393000													13	76					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166772	32166772	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32166772C>T	ENST00000375023.3	-	24	4604	c.4466G>A	c.(4465-4467)cGa>cAa	p.R1489Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1489					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCGAGGCCGTCGAGTGAAACC	0.637000													82	142					0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152487938	152487938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152487938C>T	ENST00000368790.3	+	2	152	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	27										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgtcccgccccggcgcccac	0.711000													5	9					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569278	129569278	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:129569278G>A	ENST00000389441.4	-	1	1267	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAAGGGGAGGGAAAGGTGAGC	0.527000													5	11					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092468	132092468	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:132092468G>A	ENST00000370836.2	-	2	578	c.163C>T	c.(163-165)Cct>Tct	p.P55S	HS6ST2_ENST00000521489.1_Missense_Mutation_p.P55S	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	55						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACACCCCTAGGAGGGCCCGCG	0.711000													13	3					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433302	104433302	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104433302G>A	ENST00000361820.3	-	3	1992	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	464					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GATTCCAGATGAAAAAGTTGT	0.493000													31	121					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318434	71318434	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:71318434A>C	ENST00000338099.5	-	3	1726	c.1390T>G	c.(1390-1392)Ttt>Gtt	p.F464V	FTSJD1_ENST00000434935.2_Missense_Mutation_p.F464V			Q8IYT2	FTSJ1_HUMAN		464						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACTATTAAAGTATCCTTTG	0.358000													11	32					0	0	1	0	0
RHOG	391	broad.mit.edu	37	11	3849110	3849110	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:3849110G>A	ENST00000351018.4	-	2	416	c.259C>T	c.(259-261)Ccg>Tcg	p.P87S	RHOG_ENST00000396978.1_Missense_Mutation_p.P87S|RHOG_ENST00000396979.1_Missense_Mutation_p.P87S|RHOG_ENST00000533217.1_Missense_Mutation_p.P87S	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	87					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TAGGACGGCGGACTGGCAATG	0.592000													14	25					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96650194	96650194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:96650194G>A	ENST00000222598.4	-	3	1197	c.724C>T	c.(724-726)Ccg>Tcg	p.P242S	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	242					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTGGAGGTCGGAGGGTGGGCA	0.657000													24	47					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142123791	142123791	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:142123791G>A	ENST00000264951.4	-	16	1958	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	XRN1_ENST00000392981.2_Missense_Mutation_p.P614L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	614					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTCTGGCCATGGAGAAGGATA	0.418000													6	31					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144885708	144885708	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144885708G>A	ENST00000356994.2	-	24	3454	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	SCRIB_ENST00000377533.3_Missense_Mutation_p.R1069W|SCRIB_ENST00000320476.3_Missense_Mutation_p.R1150W	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1150	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACGCAGCCGACCGTCGCGC	0.726000													12	18					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7285598	7285598	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7285598C>T	ENST00000537408.1	+	1	617	c.79C>T	c.(79-81)Cct>Tct	p.P27S	CLSTN3_ENST00000266546.6_Intron			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	0					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCTTCCTCTCCTCTCCCTGG	0.567000													14	10					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33602313	33602313	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:33602313G>A	ENST00000399362.4	-	28	3291	c.2938C>T	c.(2938-2940)Ctt>Ttt	p.L980F	CLASP2_ENST00000359576.5_Missense_Mutation_p.L972F|CLASP2_ENST00000480013.1_Missense_Mutation_p.L760F|CLASP2_ENST00000468888.2_Missense_Mutation_p.L981F|CLASP2_ENST00000461133.3_Missense_Mutation_p.L740F|CLASP2_ENST00000307312.7_Missense_Mutation_p.L462F|CLASP2_ENST00000539981.1_Missense_Mutation_p.L750F	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	982										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTAACATCAAGGGCTTTCTGA	0.348000													28	74					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141933	42141933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:42141933C>T	ENST00000401548.3	+	14	1623	c.1583C>T	c.(1582-1584)cCa>cTa	p.P528L	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.P268L	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	528							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGAGAATCCATTCACAGCT	0.483000													7	42					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170345741	170345741	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:170345741C>T	ENST00000523189.1	+	10	1143	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	327					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTAATTATCATGAATTTTG	0.333000			T	TRD@	ALL								11	24					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67303398	67303398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:67303398G>A	ENST00000371026.3	-	10	1631	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	WDR78_ENST00000431318.1_Missense_Mutation_p.P272S|WDR78_ENST00000371023.3_Missense_Mutation_p.P526S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	526										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTTACCATGGGATTCTTTATT	0.333000													13	40					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118623790	118623790	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:118623790G>A	ENST00000336338.5	-	15	2208	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	715						cilium|flagellar axoneme|microtubule		p.P715A(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTATTATCAGGGACTGAGAGT	0.433000													53	51					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538311	10538311	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10538311G>A	ENST00000583535.1	-	31	4289	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1401F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1401					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTTCCTCGGAATCTTGAAG	0.433000													31	15					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231720	40231720	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:40231720G>A	ENST00000302541.6	+	10	1773	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	MYRIP_ENST00000425621.1_Silent_p.R477R|MYRIP_ENST00000539167.1_Silent_p.R290R|MYRIP_ENST00000444716.1_Silent_p.R477R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.R388R	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	477	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGTTGCAGAGGAAGGCCCCCA	0.622000													33	34					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986550	11986550	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:11986550C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GCAGGTATTTCCCATATTCTG	0.552000													14	50					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915099	176915099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176915099C>T	ENST00000367654.2	-	13	2249	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E738K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E738K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E738K|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	746					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGCCACTTCCTTGGAATGG	0.473000													56	78					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4870250	4870250	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:4870250G>A	ENST00000252318.2	+	7	1637	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCGAGTGGCCGAAATCTGGAT	0.527000													15	42					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:114326902C>T	ENST00000297405.5	-	2	543	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R100Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R100Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R60Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	100	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	47					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39979003	39979003	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:39979003C>T	ENST00000373257.3	+	7	1159	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	356					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TTCCAGTTCCCACCGGGCAGC	0.652000													11	22					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360982	107360982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107360982G>A	ENST00000374779.2	-	1	806	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCAGGTAGAGGAAGGTTTGCT	0.408000													32	50					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648589	153648589	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:153648589C>T	ENST00000299328.5	+	9	974	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	TAZ_ENST00000350743.4_Missense_Mutation_p.P199S|TAZ_ENST00000369776.4_Missense_Mutation_p.P199S|TAZ_ENST00000351413.4_Missense_Mutation_p.P215S|TAZ_ENST00000369790.4_Missense_Mutation_p.P185S|TAZ_ENST00000498029.1_3'UTR	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	229					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCTACTTCCCCCGCTTTGG	0.622000													123	115					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97863118	97863118	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:97863118G>A	ENST00000447648.2	-	11	1586	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	TECPR1_ENST00000542604.1_Silent_p.L359L|TECPR1_ENST00000379795.3_Silent_p.L429L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	429						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTCTGCAGGGAGAATCTGGC	0.617000													7	10					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66786546	66786546	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:66786546C>T	ENST00000359742.4	-	18	2420	c.2180G>A	c.(2179-2181)aGc>aAc	p.S727N	GRIP1_ENST00000286445.7_Missense_Mutation_p.S727N|GRIP1_ENST00000398016.3_Missense_Mutation_p.S675N			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	727	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCCTTTCAAGCTGCTGCTATT	0.438000													22	64					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974214	22974214	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22974214G>A	ENST00000374639.3	+	3	794	c.676G>A	c.(676-678)Gac>Aac	p.D226N	C1QC_ENST00000374640.4_Missense_Mutation_p.D226N|C1QC_ENST00000374637.1_Missense_Mutation_p.D226N	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	226	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGACTACTACGACATGGTGGG	0.632000													19	50					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94397260	94397260	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:94397260C>T	ENST00000260731.3	+	16	2208	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	706					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATGTGGAAACCTAACTGAAG	0.388000													17	33					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78936357	78936357	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78936357C>T	ENST00000306801.3	+	32	4151	c.3789C>T	c.(3787-3789)ccC>ccT	p.P1263P	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P1105P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1263					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACATCCACCCCCAGGCGGACC	0.632000													32	62					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6204741	6204741	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6204741G>A	ENST00000261405.5	-	6	796	c.542C>T	c.(541-543)aCc>aTc	p.T181I	VWF_ENST00000572068.1_Missense_Mutation_p.T218I	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	181	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGTCCGAGGTCAAGGTCCC	0.507000													12	53					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90083966	90083966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:90083966G>A	ENST00000405460.2	+	68	13828	c.13732G>A	c.(13732-13734)Ggg>Agg	p.G4578R	GPR98_ENST00000425867.2_Missense_Mutation_p.G239R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4578	Calx-beta 31.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCAGTGAGCGGGTTGTTCTA	0.428000													18	24					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447784	19447784	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19447784G>A	ENST00000375267.2	-	68	10043	c.10040C>T	c.(10039-10041)tCc>tTc	p.S3347F	UBR4_ENST00000375254.3_Missense_Mutation_p.S3347F|UBR4_ENST00000375217.2_Missense_Mutation_p.S3340F|UBR4_ENST00000375226.2_Missense_Mutation_p.S3323F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3347	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTGAGGAGGAAGAAGCACT	0.547000													12	39					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6001834	6001834	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:6001834G>A	ENST00000303657.5	-	15	2000	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	RFX2_ENST00000592546.1_Silent_p.S592S|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.S617S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACCTGTAAAAGGACCATTTCA	0.622000													13	30					0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7530854	7530854	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:7530854G>A	ENST00000329293.3	+	3	1038	c.644G>A	c.(643-645)gGa>gAa	p.G215E	OLFML1_ENST00000530135.1_Missense_Mutation_p.G215E|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	215	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCTGGCAGGGAACAGGCCAA	0.418000													29	29					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33624432	33624432	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:33624432C>T	ENST00000504830.1	-	14	2382	c.2047G>A	c.(2047-2049)Gat>Aat	p.D683N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	683	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCATTGGAATCGATCTCATAG	0.527000										HNSCC(64;0.19)			7	33					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123262119	123262119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:123262119C>T	ENST00000253079.6	+	2	462	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CCDC62_ENST00000392441.4_Nonsense_Mutation_p.R40*|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	40						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ATTAAAAGATCGAGATAAAGA	0.448000													5	24					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039917	29039917	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:29039917C>T	ENST00000257189.4	+	6	710	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	209	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACCCATGTTCCTCCTAAGCA	0.438000													16	6					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247070	47247070	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:47247070C>T	ENST00000300404.2	+	11	1740	c.1681C>T	c.(1681-1683)Cat>Tat	p.H561Y	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.H475Y|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.H501Y	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	561					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTTCAAGAACCATCTCCAATG	0.517000													5	54					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699979	52699979	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52699979G>A	ENST00000293525.5	+	7	1214	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	KRT86_ENST00000544024.1_Missense_Mutation_p.E388K|KRT86_ENST00000423955.2_Missense_Mutation_p.E388K	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	388	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGATCAGGGAGTACCAGGA	0.652000											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	73					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64646884	64646884	+	RNA	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:64646884T>C	ENST00000587624.1	+	0	1134																											GTTCCTGCCTTGAGGGTATGT	0.423000													5	40					0	0	1	0	0
PRR13	54458	broad.mit.edu	37	12	53839812	53839812	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53839812C>T	ENST00000429243.2	+	4	624	c.416C>T	c.(415-417)tCc>tTc	p.S139F	PRR13_ENST00000549581.1_Missense_Mutation_p.S89F|PRR13_ENST00000549924.1_Missense_Mutation_p.S139F|PRR13_ENST00000549135.1_Missense_Mutation_p.S139F|PRR13_ENST00000549068.1_3'UTR|PRR13_ENST00000547368.1_Missense_Mutation_p.S153F|PRR13_ENST00000546581.1_Missense_Mutation_p.S43F|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000551003.1_Missense_Mutation_p.S107F|PRR13_ENST00000379786.4_Missense_Mutation_p.S89F	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	139	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TCCTCCTCTTCCTCCTCCTCT	0.522000													38	26					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56527021	56527021	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:56527021C>T	ENST00000424459.3	+	5	1558	c.284C>T	c.(283-285)tCc>tTc	p.S95F	GPBP1_ENST00000454432.2_Missense_Mutation_p.S95F|GPBP1_ENST00000538707.1_Missense_Mutation_p.S102F|GPBP1_ENST00000264779.6_Missense_Mutation_p.S102F|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000506184.2_Missense_Mutation_p.S95F|GPBP1_ENST00000511209.1_Missense_Mutation_p.S102F	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGTGGAAGTTCCCGTTCTCGT	0.408000													13	15					0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	298634	298634	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:298634G>A	ENST00000382614.2	-	2	301	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	89					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACATCGCGGCCAGGATGTT	0.647000													22	28					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568238	131568238	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:131568238C>T	ENST00000372648.5	+	10	1169	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	TBC1D13_ENST00000539497.1_Missense_Mutation_p.S159F|TBC1D13_ENST00000223865.8_Missense_Mutation_p.S215F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	340	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ATCTGGGACTCCCTCTTCGCC	0.582000													15	34					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145598600	145598600	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145598600G>T	ENST00000334163.3	-	8	1053	c.893C>A	c.(892-894)cCt>cAt	p.P298H	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.P298H	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	298					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ATAGCCAACAGGTAGGGATCT	0.398000													18	72					4.63292e-17	4.72479e-17	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70733538	70733538	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:70733538G>A	ENST00000322773.4	+	12	1148	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	349	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAAAAAGGAGATCCAGCT	0.328000													5	11					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41911244	41911244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41911244G>A	ENST00000381647.2	+	4	468	c.449G>A	c.(448-450)aGa>aAa	p.R150K	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	150										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACCAAAAGAAGAGAGTGGCTC	0.388000													13	30					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156655310	156655310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156655310G>A	ENST00000422843.3	+	7	804	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	218	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAACAGGCATGAAGGATATGT	0.284000			T	SYK	peripheral T-cell lymphoma								11	21					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67064725	67064725	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67064725C>T	ENST00000315962.4	+	8	1472	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	TRIM55_ENST00000353317.5_Missense_Mutation_p.P367S|TRIM55_ENST00000276573.7_Missense_Mutation_p.P367S|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	367						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AACAGAGTTTCCAGGAGAAGA	0.502000													12	29					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844642	5844642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5844642C>T	ENST00000303225.6	-	3	843	c.209G>A	c.(208-210)tGg>tAg	p.W70*	FUT3_ENST00000589620.1_Nonsense_Mutation_p.W70*|FUT3_ENST00000458379.2_Nonsense_Mutation_p.W70*|FUT3_ENST00000589918.1_Nonsense_Mutation_p.W70*	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	70					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGAAAGGCCATGTCCGTAG	0.647000													26	42					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28849340	28849340	+	Missense_Mutation	SNP	G	G	A	rs145348249		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:28849340G>A	ENST00000422425.2	+	50	3636	c.3592G>A	c.(3592-3594)Ggg>Agg	p.G1198R	PLB1_ENST00000327757.5_Missense_Mutation_p.G1209R|PLB1_ENST00000541605.1_Missense_Mutation_p.G174R	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1209	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)					ACTCTTCATTGGGGTCAACGA	0.532000													11	19					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075789	149075789	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:149075789C>T	ENST00000355292.3	-	5	2652	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Missense_Mutation_p.D764N|NR3C2_ENST00000358102.3_Missense_Mutation_p.D760N|NR3C2_ENST00000344721.4_Missense_Mutation_p.D760N|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	760	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCGGCTGTATCTGGTTTTGAG	0.493000													30	53					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896750	227896750	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:227896750G>A	ENST00000396625.3	-	40	3935	c.3728C>T	c.(3727-3729)cCt>cTt	p.P1243L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1243L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1243	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			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)		GGCACCTGCAGGACCAGGTGG	0.502000													5	23					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906179	42906179	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:42906179G>A	ENST00000422265.1	+	3	360	c.185G>A	c.(184-186)aGc>aAc	p.S62N	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S62N|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.S62N|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TTGGGCCTCAGCGGGAACCTC	0.517000													63	51					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35700363	35700363	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:35700363G>A	ENST00000314888.9	-	49	6838	c.6485C>T	c.(6484-6486)tCc>tTc	p.S2162F	TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2162					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCTCTGGGGAACAGAAAAC	0.517000													14	17					0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48715041	48715041	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:48715041G>A	ENST00000391898.3	-	11	1582	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CARD8_ENST00000357778.5_Intron|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Silent_p.L464L|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000519940.1_Silent_p.L514L|CARD8_ENST00000447740.2_Silent_p.L464L|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000359009.4_Silent_p.L408L|CARD8_ENST00000520153.1_Silent_p.L464L	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	408					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AGCACGTCCAGGGCCAGGTCC	0.493000													36	111					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427623	75427623	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:75427623G>A	ENST00000502798.2	+	2	490	c.48G>A	c.(46-48)aaG>aaA	p.K16K	SV2C_ENST00000322285.7_Silent_p.K16K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	16	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGGGTGCCAAGGACATTGCCA	0.468000													10	41					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29240740	29240740	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:29240740C>T	ENST00000379558.4	+	10	1629	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	426							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCAGCATCATCCTGAGGAAGT	0.682000													6	9					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690955	38690955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:38690955G>A	ENST00000449981.2	+	2	479	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAATCTACAGGAAACATTAAA	0.438000													28	34					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132472	161132472	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161132472C>T	ENST00000368002.3	+	6	1226	c.849C>T	c.(847-849)ttC>ttT	p.F283F	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Silent_p.F283F|USP21_ENST00000289865.8_Silent_p.F283F	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	283					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTACTCGATTCCGAGCTGTCT	0.547000													8	30					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186282	5186282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:5186282C>T	ENST00000274181.7	+	5	1019	c.881C>T	c.(880-882)aCc>aTc	p.T294I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T294I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	294	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AACGTGGAGACCTTGGTGGTG	0.458000													37	38					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641339	99641339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:99641339C>T	ENST00000345514.2	-	3	1887	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K	BCL11B_ENST00000357195.3_Missense_Mutation_p.E612K|BCL11B_ENST00000443726.2_Missense_Mutation_p.E418K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	612	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCAGGAGCTCGCCGTACTGC	0.756000			T	TLX3	T-ALL								11	28					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40094426	40094426	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:40094426C>T	ENST00000299092.3	-	4	650	c.452G>A	c.(451-453)aGg>aAg	p.R151K	GPR176_ENST00000561100.1_Missense_Mutation_p.R152K|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Missense_Mutation_p.R107K	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	152					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGATATTTTCCTCTCCAGTGG	0.443000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	38					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653655	159653655	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:159653655G>A	ENST00000297267.9	+	11	2311	c.2111G>A	c.(2110-2112)gGg>gAg	p.G704E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G641E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	704	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCATTCAGGGGCCGCAGAG	0.682000													13	11					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227441847	227441847	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:227441847A>C	ENST00000366769.3	-	2	1479	c.188T>G	c.(187-189)tTt>tGt	p.F63C	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.F63C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.F63C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.F63C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.F63C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.F63C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.F63C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	63					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTAGAAGTAAATGGTTTAGC	0.289000													15	49					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189910627	189910627	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:189910627G>A	ENST00000374866.3	-	46	3482	c.3208C>T	c.(3208-3210)Cgt>Tgt	p.R1070C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1070					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTCTCCACGATCACCCTAA	0.443000													11	35					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973216	115973216	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:115973216C>T	ENST00000251864.2	+	15	2096	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	TDRD1_ENST00000369282.1_Missense_Mutation_p.S648F|TDRD1_ENST00000369281.2_Missense_Mutation_p.S591F|TDRD1_ENST00000422662.1_Missense_Mutation_p.S252F|TDRD1_ENST00000369280.1_Missense_Mutation_p.S648F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	648					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAAACAGTTCCCTGGTGGAG	0.418000													32	34					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184233	55184233	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:55184233C>T	ENST00000337714.3	+	2	1641	c.1408C>T	c.(1408-1410)Ccc>Tcc	p.P470S	AKAP1_ENST00000572557.1_Missense_Mutation_p.P470S|AKAP1_ENST00000539273.1_Missense_Mutation_p.P470S|AKAP1_ENST00000314126.3_Missense_Mutation_p.P470S|AKAP1_ENST00000571629.1_Missense_Mutation_p.P470S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	470					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)					ACTGACCACCCCCAGTGAAGA	0.592000													4	135					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666693	57666693	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57666693C>T	ENST00000554048.2	-	5	485	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CCACAGGTTCCCTTTTTCTCT	0.413000													10	25					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451539	19451539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19451539G>A	ENST00000396229.2	+	3	928	c.179G>A	c.(178-180)aGa>aAa	p.R60K	TMC5_ENST00000542583.2_Missense_Mutation_p.R60K|TMC5_ENST00000381414.4_Missense_Mutation_p.R60K|TMC5_ENST00000541464.1_Missense_Mutation_p.R60K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	60						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTAGCCTCCAGAACACGTCCA	0.483000													26	36					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408000													5	12					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45535577	45535577	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45535577C>T	ENST00000291576.7	+	7	739	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	204						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGCAGCTGTACTCACTCAGCC	0.662000													45	82					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949796	56949796	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56949796C>T	ENST00000497933.1	+	1	576	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	113						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACAACAACTCCTTAATGGAGC	0.582000													6	14					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157164	4157164	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:4157164C>T	ENST00000078445.2	+	3	476	c.329C>T	c.(328-330)cCc>cTc	p.P110L	CREB3L3_ENST00000252587.3_Missense_Mutation_p.P100L|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P110L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.P110L|CREB3L3_ENST00000595923.1_Missense_Mutation_p.P109L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	110					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACCTCCCCCGCCGGCTGC	0.662000													21	50					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323052	61323052	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:61323052C>T	ENST00000283752.5	-	8	1155	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.E286K	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	338					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E338Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTCCCTCCTCTGTAACCTCC	0.517000													26	40					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741202	48741202	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48741202G>A	ENST00000285238.8	+	9	1239	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S	ABCC3_ENST00000427699.1_Missense_Mutation_p.G387S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	387	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)	TGGGATCATGGGTGTCATCTA	0.547000													6	57					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18537661	18537661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:18537661G>A	ENST00000536719.1	-	3	312	c.178C>T	c.(178-180)Cct>Tct	p.P60S	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.P60S			Q99816	TS101_HUMAN	tumor susceptibility 101	60	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TAAGGCACAGGGATTGTTCCA	0.338000													8	18					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399966	87399966	+	Silent	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87399966T>G	ENST00000338056.3	+	8	1161	c.750T>G	c.(748-750)acT>acG	p.T250T	RUNDC3B_ENST00000493037.1_Silent_p.T233T|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.T233T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	250										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAAGCAGTACTCCAGAGAATG	0.418000													12	25					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66878805	66878805	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:66878805C>T	ENST00000269080.2	-	28	3780	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1255N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1255N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1215						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACATCTTCATCCTCTCCTTCT	0.348000													8	75					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664106	39664106	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:39664106G>A	ENST00000263881.3	-	1	347	c.23C>T	c.(22-24)tCc>tTc	p.S8F	MAP4K3_ENST00000341681.5_Missense_Mutation_p.S8F|AC007246.3_ENST00000426083.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	8					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTTCCGGCGGGACAAATCGAA	0.726000													8	17					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186908283	186908283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:186908283G>A	ENST00000367466.3	+	9	991	c.839G>A	c.(838-840)tGg>tAg	p.W280*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.W220*|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	280	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGTCTTTATGGAAGAAGAAA	0.358000													23	33					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158165122	158165122	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:158165122G>A	ENST00000259056.4	+	9	3049	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	855	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATTAAATGTGGAGAATGGTGT	0.433000													61	119					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411587	126411587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:126411587C>T	ENST00000394329.3	+	17	13623	c.13610C>T	c.(13609-13611)cCc>cTc	p.P4537L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2778L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4537					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCAAAAATCCCAAAGAGGAG	0.527000													12	22					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49939861	49939861	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49939861G>A	ENST00000296474.3	-	1	1209	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.L394L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	394	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGCCTCGCCGGAGGCCTGGAT	0.577000													24	85					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138563	55138563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:55138563C>T	ENST00000257290.5	+	9	1571	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	414	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTTGCAGTTCCTTCATCCAT	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			10	38					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52833931	52833931	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52833931A>T	ENST00000449956.2	+	9	1075	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*	ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Nonsense_Mutation_p.K357*	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	357	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CATGGAGGATAAAGGAAGTAA	0.587000													4	26					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50118112	50118112	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:50118112C>T	ENST00000299192.7	+	9	1391	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	HEATR3_ENST00000285767.4_Silent_p.S314S|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	400							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGGAGAATTCCTTCAGTGAGT	0.502000													10	24					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													14	92					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6204669	6204669	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6204669G>A	ENST00000261405.5	-	6	868	c.614C>T	c.(613-615)cCt>cTt	p.P205L	VWF_ENST00000572068.1_Missense_Mutation_p.P242L	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	205	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGCTGGGAGGAGATGCCCG	0.542000													32	87					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554978	52554978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52554978G>A	ENST00000321725.6	+	55	5941	c.5865G>A	c.(5863-5865)tgG>tgA	p.W1955*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1955					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACCACCTGGAAGCCCAGCT	0.607000													17	19					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494248	157494248	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:157494248G>A	ENST00000361835.3	-	10	2217	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	FCRL5_ENST00000368190.3_Missense_Mutation_p.S687F|FCRL5_ENST00000368191.3_Missense_Mutation_p.S602F|FCRL5_ENST00000356953.4_Missense_Mutation_p.S687F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	687	Ig-like C2-type 7.		S -> C (in a breast cancer sample; somatic mutation).			integral to membrane|plasma membrane	receptor activity	p.S687C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGATTGGGGAGGAGCCTCT	0.582000													30	34					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978999	1978999	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:1978999G>A	ENST00000255641.8	+	6	1084	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	197	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGTACATCGACCCCGAGAC	0.642000													11	36					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	598398	598398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:598398C>T	ENST00000264555.5	+	9	1048	c.920C>T	c.(919-921)tCc>tTc	p.S307F	PHRF1_ENST00000413872.2_Missense_Mutation_p.S306F|PHRF1_ENST00000416188.2_Missense_Mutation_p.S307F|PHRF1_ENST00000533464.1_Missense_Mutation_p.S303F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	307	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCGGGTCTTCCCTGCTGGAT	0.672000													8	28					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459540	92459540	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:92459540C>T	ENST00000318445.6	+	2	712	c.498C>T	c.(496-498)atC>atT	p.I166I	SLCO3A1_ENST00000424469.2_Silent_p.I166I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	166					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCGACCTCATCTGCCGCAACC	0.697000													14	15					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166278	140166278	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140166278G>A	ENST00000504120.2	+	1	403	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	PCDHA1_ENST00000394633.3_Missense_Mutation_p.G135S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G135S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTTCAGGGGCAGAGAACA	0.483000													15	62					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11299807	11299807	+	Silent	SNP	C	C	T	rs17853611		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:11299807C>T	ENST00000379261.4	+	5	581	c.489C>T	c.(487-489)atC>atT	p.I163I	CELF2_ENST00000354440.2_Silent_p.I139I|CELF2_ENST00000427450.1_Silent_p.I139I|CELF2_ENST00000399850.3_Silent_p.I139I|CELF2_ENST00000354897.3_Silent_p.I139I|CELF2_ENST00000537122.1_Silent_p.I52I|CELF2_ENST00000315874.3_Silent_p.I139I|CELF2_ENST00000450189.1_Silent_p.I170I|CELF2_ENST00000417956.2_Silent_p.I139I|CELF2_ENST00000416382.2_Silent_p.I163I|CELF2_ENST00000542579.1_Silent_p.I170I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	163	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AATGCCGGATCCTCCGGGGAC	0.488000													13	27					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48896834	48896834	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:48896834G>A	ENST00000315869.7	-	3	591	c.332C>T	c.(331-333)tCa>tTa	p.S111L	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	111					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GACCCTCGATGAAGAAGATGA	0.647000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								10	5					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89753625	89753625	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:89753625T>A	ENST00000268125.5	-	9	1284	c.845A>T	c.(844-846)gAg>gTg	p.E282V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	282	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CAGGATGTTCTCATCGATCTC	0.577000													7	106					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4904108G>A	ENST00000380378.1	+	1	1060	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.D327N|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468000													7	17					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745154	172745154	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:172745154C>T	ENST00000265087.4	-	4	1914	c.605G>A	c.(604-606)gGa>gAa	p.G202E		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	202					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCACAGGCTTCCCCAGTTCTG	0.632000													10	29					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17939556	17939556	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17939556T>C	ENST00000361221.3	+	8	772	c.613T>C	c.(613-615)Tct>Cct	p.S205P	ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S205P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	205					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCTCCAGCTTTCTCCAGACCT	0.547000													21	131					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438296	125438296	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:125438296G>A	ENST00000304820.2	+	1	982	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACAAAGACATGAAACGGGGCT	0.378000													8	24					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424898	91424898	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91424898C>T	ENST00000268171.3	+	16	2454	c.2175C>T	c.(2173-2175)atC>atT	p.I725I		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	725					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.I725I(1)|p.V717fs*18(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCGCCTTCATCGTGCTGGTCT	0.662000													23	344					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863241	6863241	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:6863241C>T	ENST00000307659.5	+	7	1587	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P378S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	378							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAGAAAAGATCCTGGGAGCAC	0.443000													26	89					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276987	75276987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:75276987C>T	ENST00000325680.7	+	9	5216	c.5092C>T	c.(5092-5094)Cgt>Tgt	p.R1698C	YLPM1_ENST00000552421.1_Missense_Mutation_p.R992C|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1503C	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTATTTTGATCGTCAAAGTAA	0.393000													23	28					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49074219	49074219	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:49074219T>G	ENST00000376265.2	-	26	3178	c.3117A>C	c.(3115-3117)gaA>gaC	p.E1039D	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E974D|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1028D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1039					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTCACTTGCATTCTTGAGGGG	0.547000													37	10					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113635860	113635860	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:113635860C>T	ENST00000361127.4	+	3	536	c.338C>T	c.(337-339)cCg>cTg	p.P113L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	113						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACAGAAATCCCGTATTTTGGA	0.284000													9	22					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510542	4510542	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4510542C>T	ENST00000307632.3	+	1	434	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACGACGGTCCTGACTGGGTC	0.572000													12	31					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124065235	124065235	+	Silent	SNP	C	C	T	rs116956127	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:124065235C>T	ENST00000373823.3	+	11	1148	c.243C>T	c.(241-243)acC>acT	p.T81T	GSN_ENST00000341272.2_Silent_p.T81T|GSN_ENST00000449733.1_Silent_p.T81T|GSN_ENST00000545652.1_Silent_p.T89T|GSN_ENST00000436847.1_Silent_p.T92T|GSN_ENST00000373818.4_Silent_p.T132T|GSN_ENST00000412819.1_Silent_p.T81T|GSN_ENST00000394353.2_Silent_p.T92T|GSN_ENST00000373808.2_Silent_p.T81T			P06396	GELS_HUMAN	gelsolin	132	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CCATCTTTACCGTGCAGCTGG	0.607000													17	70					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101580612	101580612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:101580612C>T	ENST00000335681.5	+	8	976	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.R296C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	231					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCCACCGTTCGTCTGGCAAC	0.478000													19	29					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228789	39228789	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39228789G>A	ENST00000340369.3	-	2	2376	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	XIRP1_ENST00000396251.1_Silent_p.I716I|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	716							actin binding	p.I716I(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGACCCAGCGATTACCCGGG	0.592000													14	27					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3529890	3529890	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:3529890C>T	ENST00000262919.5	+	6	1085	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	ATRN_ENST00000446916.2_Silent_p.L339L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	339					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTTAAAGCTCCCCAGAGCAT	0.393000													18	52					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660973	8660973	+	Missense_Mutation	SNP	T	T	A	rs142981402		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8660973T>A	ENST00000270328.4	-	10	1587	c.1321A>T	c.(1321-1323)Atc>Ttc	p.I441F	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.I441F			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	441	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AAGCTGGTGATGTAGTCACGG	0.582000													21	51					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419298	10419298	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10419298C>T	ENST00000226207.5	-	5	544	c.450G>A	c.(448-450)gaG>gaA	p.E150E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	150	Myosin head-like.					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						GGGGTGGGGCCTCCTGGCGCT	0.498000													23	67					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561695	147561695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:147561695G>A	ENST00000281321.3	+	2	1213	c.965G>A	c.(964-966)tGg>tAg	p.W322*		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	322	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CTGCAGGCATGGCTCGAGGAG	0.607000													25	58					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922816	24922816	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922816C>A	ENST00000329468.2	+	1	2276	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGCTCTCTCCCAAATTCCCAA	0.468000													12	71					0.00010058	0.000101142	1	1	0
UIMC1	51720	broad.mit.edu	37	5	176409486	176409486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:176409486G>A	ENST00000377219.2	-	2	297	c.131C>T	c.(130-132)tCc>tTc	p.S44F	UIMC1_ENST00000511320.1_Missense_Mutation_p.S44F|UIMC1_ENST00000377227.4_Missense_Mutation_p.S44F|UIMC1_ENST00000506128.1_Missense_Mutation_p.S44F	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	44	Necessary for transcriptional repression.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACTATCGGATATCACAAT	0.453000													22	71					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101156531	101156531	+	Missense_Mutation	SNP	C	C	T	rs146990467	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:101156531C>T	ENST00000259455.2	-	9	1763	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	435					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTTCACCTCCCTGCTGTCTGT	0.562000													13	19					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166902340	166902340	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:166902340C>T	ENST00000510118.1	-	12	1303	c.963G>A	c.(961-963)cgG>cgA	p.R321R	RPS6KA2_ENST00000405189.3_Silent_p.R207R|RPS6KA2_ENST00000503859.1_Silent_p.R304R|RPS6KA2_ENST00000265678.4_Silent_p.R296R|RPS6KA2_ENST00000481261.2_Silent_p.R207R|RPS6KA2_ENST00000366863.2_Silent_p.R142R			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	296	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGCAGGGGTTCCGTTTGAAGA	0.587000													4	14					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112724519	112724519	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:112724519A>T	ENST00000314400.5	-	9	1759	c.1568T>A	c.(1567-1569)aTt>aAt	p.I523N	C3orf17_ENST00000383675.2_Missense_Mutation_p.I453N|C3orf17_ENST00000393857.2_Missense_Mutation_p.I387N	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	523						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATTTTCATGAATCATTTTCTC	0.378000													38	49					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053615	73053615	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:73053615C>T	ENST00000335350.6	+	13	2516	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	UNC5B_ENST00000373192.4_Silent_p.F689F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	700					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGCCGTCTTCGCCCCCGCCC	0.657000													3	30					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720799	95720799	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:95720799C>T	ENST00000480546.1	-	0	498					NR_002319.2																						CTACAGAGTTCAATCAGCGGC	0.488000													10	33					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250618	18250618	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:18250618C>T	ENST00000377369.2	+	3	643	c.370C>T	c.(370-372)Cat>Tat	p.H124Y	SLC39A12_ENST00000377371.3_Missense_Mutation_p.H124Y|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H124Y	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	124					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTACATTATTCATCAGGAAGA	0.388000													8	40					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018646	5018646	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:5018646G>A	ENST00000307746.4	-	3	270	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	82					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTCCAACACGGGGGCGAGGCC	0.547000													44	90					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734891	92734891	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92734891G>A	ENST00000379958.2	-	3	789	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	174						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACTTGTAACGATATGGATTA	0.378000													37	96					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651434	135651434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:135651434C>T	ENST00000513104.1	-	3	1096	c.814G>A	c.(814-816)Gat>Aat	p.D272N	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	272					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTACAAAATCCTTGCATTGC	0.493000													14	19					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468960	56468960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:56468960G>A	ENST00000288221.6	-	2	331	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	26						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R26C(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGCCCAAACGAGGAGACCTT	0.488000													12	32					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45473543	45473543	+	Missense_Mutation	SNP	C	C	T	rs141013517		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:45473543C>T	ENST00000361462.2	+	4	2801	c.2618C>T	c.(2617-2619)tCg>tTg	p.S873L	FAM179B_ENST00000382233.2_Missense_Mutation_p.S873L|FAM179B_ENST00000361577.3_Missense_Mutation_p.S873L|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	873							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCCAAAAATCGTCTGATCCT	0.358000													14	23					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741276	207741276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:207741276C>T	ENST00000367049.4	+	25	4060	c.4060C>T	c.(4060-4062)Cca>Tca	p.P1354S	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.P904S|CR1_ENST00000367053.1_Missense_Mutation_p.P904S|CR1_ENST00000400960.2_Missense_Mutation_p.P904S|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	904	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGACCCCCACCCAGACAGAGG	0.537000													43	171					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057802	56057802	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56057802C>T	ENST00000313022.2	-	1	764	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G246A(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGGTGACTCCCAAGAGATG	0.358000													15	42					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225088	107225088	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:107225088C>T	ENST00000302917.1	-	2	362	c.270G>A	c.(268-270)gtG>gtA	p.V90V		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	90										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCAGCCACTGCACCCTGCGGT	0.602000													46	30					0	0	1	0	0
NEURL1	9148	broad.mit.edu	37	10	105330765	105330765	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:105330765C>T	ENST00000369780.4	+	2	631	c.222C>T	c.(220-222)atC>atT	p.I74I	NEURL_ENST00000369777.2_Silent_p.I57I	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		74	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTCCCAGATCCTCATGGACC	0.642000													35	102					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53779852	53779852	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:53779852G>A	ENST00000288139.3	+	26	3295	c.3177G>A	c.(3175-3177)ggG>ggA	p.G1059G	CACNA1D_ENST00000422281.2_Silent_p.G1039G|CACNA1D_ENST00000350061.5_Silent_p.G1039G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1039					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATACCCAGGGGAAGTTCTATC	0.458000													9	7					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30521683	30521683	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30521683C>T	ENST00000356798.6	+	22	2690	c.2508_splice	c.e22-1	p.P837_splice	ITGAL_ENST00000358164.5_Splice_Site_p.P753_splice|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	837					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACTCCCAGCCCCATAGCCAG	0.557000													8	108					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885196	29885196	+	Missense_Mutation	SNP	G	G	A	rs56916487		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:29885196G>A	ENST00000310624.6	+	4	1600	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	523	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTAAAGGAAGAGGCAAAGTC	0.547000													10	53					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885493	43885493	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:43885493C>T	ENST00000562955.1	+	8	968	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	323				S -> A (in Ref. 3; BU101724).		peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACATTTGGGTCCTACCTGTCC	0.517000													20	62					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52574367	52574367	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52574367C>T	ENST00000313234.5	-	4	693	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	KRT80_ENST00000394815.2_Missense_Mutation_p.R199Q	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	199	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGTTCAGTCCGATGAAGACA	0.567000													25	86					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267166	123267166	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:123267166G>A	ENST00000451558.1	+	11	1221	c.700G>A	c.(700-702)Ggt>Agt	p.G234S	ASB15_ENST00000275699.3_Missense_Mutation_p.G234S|ASB15_ENST00000451215.1_Missense_Mutation_p.G234S|ASB15_ENST00000434204.1_Missense_Mutation_p.G234S|ASB15_ENST00000540573.1_Missense_Mutation_p.G234S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	234					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ACTGCCAGGTGGTGATGTGCT	0.517000													38	49					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	51					0	0	1	0	0
CTD-2090I13.1	0	broad.mit.edu	37	1	227618273	227618273	+	RNA	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:227618273T>A	ENST00000445817.1	+	0	1508																											CTGCGAGTACTCAACACCAGC	0.522000													18	29					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815070	106815070	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:106815070G>A	ENST00000407775.2	+	8	3010	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G	ZFPM2_ENST00000378472.4_Silent_p.G651G|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.G788G|ZFPM2_ENST00000520492.1_Silent_p.G788G|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	920					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAAATGGGAATTTGAAGC	0.453000													5	25					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608545	608545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:608545C>T	ENST00000264555.5	+	14	3217	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	PHRF1_ENST00000413872.2_Missense_Mutation_p.S1028L|PHRF1_ENST00000416188.2_Missense_Mutation_p.S1029L|PHRF1_ENST00000533464.1_Missense_Mutation_p.S1026L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1030	Arg-rich.						RNA polymerase binding|zinc ion binding	p.S1030L(1)|p.S1035L(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GACAGGAGCTCGAGGTCAGCG	0.672000													5	21					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811297	45811297	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45811297C>T	ENST00000397928.1	+	11	2028	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	TRPM2_ENST00000300481.9_Missense_Mutation_p.P528L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.P528L|TRPM2_ENST00000397932.2_Missense_Mutation_p.P528L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	528						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AACCTGGACCCCTCCTGCCTG	0.627000													22	76					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107691340	107691340	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:107691340G>A	ENST00000370067.1	+	2	752	c.125G>A	c.(124-126)gGg>gAg	p.G42E	NTNG1_ENST00000370068.1_Missense_Mutation_p.G42E|NTNG1_ENST00000370070.2_Missense_Mutation_p.G42E|NTNG1_ENST00000370071.2_Missense_Mutation_p.G42E|NTNG1_ENST00000370072.3_Missense_Mutation_p.G42E|NTNG1_ENST00000370074.4_Missense_Mutation_p.G42E|NTNG1_ENST00000542803.1_Missense_Mutation_p.G42E|NTNG1_ENST00000370061.3_Missense_Mutation_p.G42E|NTNG1_ENST00000370065.1_Missense_Mutation_p.G42E|NTNG1_ENST00000370073.2_Missense_Mutation_p.G42E|NTNG1_ENST00000370066.1_Missense_Mutation_p.G42E			Q9Y2I2	NTNG1_HUMAN	netrin G1	42					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACGGAAGAAGGGAAAGTTTGG	0.473000													18	77					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153206	105153206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:105153206C>T	ENST00000428173.2	+	13	1879	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q525*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	525	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGGTCAAGATCAGGTACCCGA	0.547000										HNSCC(51;0.14)			11	6					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624314	624314	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:624314C>T	ENST00000321878.5	+	2	399	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PIGQ_ENST00000026218.5_Silent_p.F80F|PIGQ_ENST00000409527.2_Silent_p.F80F|PIGQ_ENST00000470411.2_Silent_p.F80F	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	80					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGGCCGCTTCCTGGAGAGCC	0.726000													8	11					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993177	38993177	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38993177G>A	ENST00000355481.4	+	48	7776	c.7645G>A	c.(7645-7647)Gcg>Acg	p.A2549T	RYR1_ENST00000359596.3_Missense_Mutation_p.A2549T|RYR1_ENST00000360985.3_Missense_Mutation_p.A2549T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2549	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGGCGCTGGCGCTGAACCG	0.652000													7	16					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15818773	15818773	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:15818773G>A	ENST00000281172.5	-	8	1089	c.653C>T	c.(652-654)cCt>cTt	p.P218L	EPS8_ENST00000543612.1_Missense_Mutation_p.P218L|EPS8_ENST00000543523.1_Missense_Mutation_p.P218L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	218					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGGGGCGCAGGGGCAGGAGC	0.507000													19	44					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24727398	24727398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:24727398G>A	ENST00000376454.3	+	5	866	c.836G>A	c.(835-837)gGa>gAa	p.G279E	KIAA1217_ENST00000376462.1_Missense_Mutation_p.G199E|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G279E|KIAA1217_ENST00000430453.2_Missense_Mutation_p.G200E|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G279E	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	279					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTATGAATGGAGACATGAGG	0.403000													17	40					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348652	140348652	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140348652G>C	ENST00000289269.5	+	1	2833	c.2301G>C	c.(2299-2301)agG>agC	p.R767S	PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		767					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGCCAGGATACCGCATG	0.522000													23	28					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035359	201035359	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:201035359T>C	ENST00000362061.3	-	21	2969	c.2743A>G	c.(2743-2745)Aag>Gag	p.K915E	CACNA1S_ENST00000367338.3_Missense_Mutation_p.K915E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	915					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTCTCACCTTCAACCCCTTG	0.647000													16	72					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207002	58207002	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58207002G>A	ENST00000302572.2	-	1	644	c.623C>T	c.(622-624)tCt>tTt	p.S208F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACCAGGATAGAAAAGAGGTC	0.408000													12	16					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29773697	29773697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:29773697G>A	ENST00000375398.2	-	29	5292	c.4843C>T	c.(4843-4845)Caa>Taa	p.Q1615*	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Nonsense_Mutation_p.Q529*|SVIL_ENST00000355867.4_Nonsense_Mutation_p.Q1615*|SVIL_ENST00000538146.1_Nonsense_Mutation_p.Q407*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.Q1189*			O95425	SVIL_HUMAN	supervillin	1615	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATTTTTCGTTGTGCTAATGTG	0.408000													8	12					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3072591	3072591	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:3072591G>A	ENST00000397461.1	+	15	2099	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	CNTN4_ENST00000418658.1_Missense_Mutation_p.G572E|CNTN4_ENST00000397459.2_Missense_Mutation_p.G244E|CNTN4_ENST00000448906.2_Missense_Mutation_p.G244E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G572E|CNTN4_ENST00000358480.3_Missense_Mutation_p.G353E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	572	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGCATGCTGGGAAATATGTC	0.423000													22	55					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412267	139412267	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139412267G>A	ENST00000277541.6	-	8	1453	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	460	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTGGCACGGGTTCGAGACG	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			15	65					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969438	5969438	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5969438C>T	ENST00000329564.6	+	1	869	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTCATTCCTGCAGCCCT	0.483000													26	55					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561262	69561262	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:69561262C>T	ENST00000261858.2	+	5	1761	c.1533C>T	c.(1531-1533)ggC>ggT	p.G511G	GLCE_ENST00000559420.2_Silent_p.G447G	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	511					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTTAAATGGCTTTATGTATT	0.383000													26	27					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76209645	76209645	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76209645C>T	ENST00000308275.3	+	5	643	c.538C>T	c.(538-540)Cct>Tct	p.P180S	FBXO22_ENST00000540507.1_Missense_Mutation_p.P76S|FBXO22_ENST00000453211.2_Missense_Mutation_p.P180S	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	180					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTTATTATTCCCTCAAATTGA	0.333000													48	30					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44523713	44523713	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:44523713C>T	ENST00000372484.3	+	11	1365	c.1083C>T	c.(1081-1083)aaC>aaT	p.N361N	CTSA_ENST00000354880.5_Silent_p.N344N|CTSA_ENST00000191018.5_Silent_p.N343N|CTSA_ENST00000372459.2_Silent_p.N343N	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	343					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACCTCAACAACCCGTACGTGC	0.607000													19	25					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048155	20048155	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:20048155G>A	ENST00000400230.2	-	6	335	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.F60F|TPTE2_ENST00000382975.4_Silent_p.F97F|TPTE2_ENST00000382978.1_Silent_p.F97F|TPTE2_ENST00000382977.4_Silent_p.F97F|TPTE2_ENST00000255310.6_Silent_p.F60F|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	97						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)		TGCTGTCAGTGAAAATTAGGT	0.303000													11	36					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58154266	58154266	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:58154266A>G	ENST00000295956.4	+	44	7463	c.7298A>G	c.(7297-7299)gAa>gGa	p.E2433G	FLNB_ENST00000348383.5_Missense_Mutation_p.E2392G|FLNB_ENST00000419752.2_Missense_Mutation_p.E2253G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.E2240G|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.E2464G|FLNB_ENST00000358537.3_Missense_Mutation_p.E2409G|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000429972.2_Missense_Mutation_p.E2422G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2433	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GATTGCCAGGAAACACCTGAA	0.522000													10	23					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592933	38592933	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38592933G>A	ENST00000413689.1	-	28	5123	c.4930C>T	c.(4930-4932)Cgc>Tgc	p.R1644C	SCN5A_ENST00000449557.2_Missense_Mutation_p.R1590C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1643C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1626C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1643C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1611C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1644C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1590C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1626C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1590C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1644			R -> C (in LQT3 and BRS1).|R -> H (in LQT3; dbSNP:rs28937316).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGCAGCGTGCGGATCCCCTTG	0.582000													28	98					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118107914	118107914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:118107914G>A	ENST00000278949.4	-	3	357	c.302C>T	c.(301-303)tCc>tTc	p.S101F	MPZL3_ENST00000527472.1_Missense_Mutation_p.S89F|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	101	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCAACCCAGGAAATCCGATC	0.428000													24	28					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853249	70853249	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:70853249C>T	ENST00000333538.5	+	3	1085	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	151	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTCCAAGGACCTGCCCCAGAT	0.542000													9	59					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611576	61611576	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61611576C>T	ENST00000583023.1	+	5	1016	c.1005C>T	c.(1003-1005)cgC>cgT	p.R335R	KCNH6_ENST00000580652.1_Silent_p.R335R|KCNH6_ENST00000456941.2_Silent_p.R335R|KCNH6_ENST00000314672.5_Silent_p.R335R|KCNH6_ENST00000581784.1_Silent_p.R335R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	335					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCCACCCCCGCCGCATCGCCG	0.567000													15	63					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436168	8436168	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8436168G>A	ENST00000301455.2	+	6	972	c.801G>A	c.(799-801)ggG>ggA	p.G267G	ANGPTL4_ENST00000541807.1_Silent_p.G100G|ANGPTL4_ENST00000393962.2_Silent_p.G229G	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	267	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCATCACGGGGGACCGCAACA	0.647000													14	38					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538564	39538564	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39538564T>A	ENST00000394001.1	-	1	91	c.61A>T	c.(61-63)Aga>Tga	p.R21*		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	21	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGTTTGAGTCTCTCCTTCCTC	0.483000													6	57					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280029	73280029	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:73280029C>T	ENST00000320531.2	+	3	660	c.624C>T	c.(622-624)acC>acT	p.T208T		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	208						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CCTGGACCACCTGCCTGGCCT	0.612000													103	238					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130368455	130368455	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:130368455C>T	ENST00000456951.1	-	4	930	c.79G>A	c.(79-81)Gga>Aga	p.G27R	TSGA13_ENST00000356588.3_Missense_Mutation_p.G27R			Q96PP4	TSG13_HUMAN	testis specific, 13	27										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					ACAACCATTCCTTTCTCACGT	0.388000													21	46					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7907921	7907921	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:7907921C>T	ENST00000377516.2	-	5	600	c.280G>A	c.(280-282)Gat>Aat	p.D94N	UTS2_ENST00000054668.5_Missense_Mutation_p.D109N|UTS2_ENST00000361696.5_Missense_Mutation_p.D94N			O95399	UTS2_HUMAN	urotensin 2	94					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		ATGTTAGGATCTTGTCCAGAG	0.368000													28	39					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064163	70064163	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:70064163G>T	ENST00000370598.1	+	27	4319	c.3498G>T	c.(3496-3498)caG>caT	p.Q1166H	BAI3_ENST00000238918.8_Missense_Mutation_p.Q372H|BAI3_ENST00000546190.1_Missense_Mutation_p.Q130H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1166					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAACTGTCAGGATCCCATCA	0.388000													19	22					1.40151e-16	1.42699e-16	1	1	0
USP31	57478	broad.mit.edu	37	16	23080226	23080226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23080226G>A	ENST00000219689.7	-	16	3199	c.3200C>T	c.(3199-3201)tCt>tTt	p.S1067F	USP31_ENST00000567975.1_Missense_Mutation_p.S360F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1067	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGGCTTTAGAGAGACTTTTAC	0.557000													10	56					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700962	23700962	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23700962C>T	ENST00000300093.4	+	9	1684	c.1573C>T	c.(1573-1575)Ctc>Ttc	p.L525F		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	525	POLO box 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CATCCTGCACCTCAGCAACGG	0.657000													3	26					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568522	223568522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:223568522G>A	ENST00000366875.3	+	1	1808	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	569										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TAAGAAAAAGGAGCAGAGGGT	0.527000													6	30					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079036	67079036	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:67079036G>A	ENST00000284425.2	-	36	4768	c.4594C>T	c.(4594-4596)Cca>Tca	p.P1532S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1532					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAGCCTGTGGGAAAAGCTTC	0.438000													49	291					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25132911	25132911	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:25132911C>T	ENST00000276440.7	+	4	222	c.178C>T	c.(178-180)Cct>Tct	p.P60S	DOCK5_ENST00000481100.1_Missense_Mutation_p.P60S	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	60	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGGCATTTTCCCTGAAACATA	0.363000													7	17					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43421444	43421444	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:43421444C>T	ENST00000039989.4	+	9	1079	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L355L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	355							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TAAGATCTCTCCAGCGAACAC	0.358000													7	41					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133750428	133750428	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133750428C>T	ENST00000318560.5	+	7	1640	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	420	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCCATCAAGTCCGACGTCTGG	0.527000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								8	32					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378838	142378838	+	RNA	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142378838A>C	ENST00000390398.3	+	0	143																											AGGCACAGGAAAGAAGATCAC	0.438000													63	94					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40475946	40475946	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:40475946C>T	ENST00000287598.6	+	6	808	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	BUB1B_ENST00000412359.3_Silent_p.L219L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	205	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCGGCAAACTCTGTTGGCACT	0.413000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				12	59					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922212	31922212	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31922212A>T	ENST00000375429.3	-	8	976	c.750T>A	c.(748-750)gaT>gaA	p.D250E	NELFE_ENST00000444811.2_Missense_Mutation_p.D220E|NELFE_ENST00000375425.5_Missense_Mutation_p.D257E	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		CAGGGAATGAATCCGACCCTT	0.488000													40	64					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922564	104922564	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:104922564G>A	ENST00000262231.10	+	3	1312	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	578					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTCAAAAGGGAAAAAGAAAA	0.363000										HNSCC(12;0.0054)			9	54					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108672937	108672937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:108672937G>A	ENST00000361189.2	-	10	2361	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	PJA2_ENST00000361557.3_Missense_Mutation_p.P708S	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	708	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		AAGGTTTAGGGTGCTTCTGCA	0.393000													10	49					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18801781	18801781	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:18801781G>A	ENST00000406451.3	+	15	2186	c.2034_splice	c.e15-1	p.R679_splice	HDAC9_ENST00000401921.1_Splice_Site_p.R638_splice|HDAC9_ENST00000432645.2_Splice_Site_p.R679_splice|HDAC9_ENST00000441542.2_Splice_Site_p.R682_splice	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	679	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R682Q(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCTTGCAGCGAATTCAAGGT	0.438000													11	18					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73459563	73459563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:73459563C>T	ENST00000252034.7	+	10	880	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	ELN_ENST00000458204.1_Missense_Mutation_p.P151S|ELN_ENST00000380576.5_Missense_Mutation_p.P161S|ELN_ENST00000429192.1_Missense_Mutation_p.P166S|ELN_ENST00000380584.4_Missense_Mutation_p.P161S|ELN_ENST00000380575.4_Missense_Mutation_p.P151S|ELN_ENST00000320492.7_Missense_Mutation_p.P149S|ELN_ENST00000358929.4_Missense_Mutation_p.P161S|ELN_ENST00000414324.1_Missense_Mutation_p.P156S|ELN_ENST00000357036.5_Missense_Mutation_p.P166S|ELN_ENST00000380562.4_Missense_Mutation_p.P161S|ELN_ENST00000380553.4_Intron|ELN_ENST00000320399.6_Missense_Mutation_p.P161S|ELN_ENST00000445912.1_Missense_Mutation_p.P161S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	161					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AGCTCGGTTCCCCGGTGTGGG	0.657000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						14	88					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541928	55541928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:55541928C>T	ENST00000220676.1	+	4	5634	c.5486C>T	c.(5485-5487)cCt>cTt	p.P1829L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1829					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACTCAGAACCTTTTCATGAG	0.428000													4	22					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453371	32453371	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:32453371G>A	ENST00000341377.5	+	2	643	c.126G>A	c.(124-126)atG>atA	p.M42I	NRG1_ENST00000521670.1_Missense_Mutation_p.M42I|NRG1_ENST00000287840.5_Missense_Mutation_p.M42I|NRG1_ENST00000287845.5_Missense_Mutation_p.M42I|NRG1_ENST00000356819.4_Missense_Mutation_p.M42I|NRG1_ENST00000405005.2_Missense_Mutation_p.M42I|NRG1_ENST00000338921.4_Missense_Mutation_p.M42I|NRG1_ENST00000519301.1_Missense_Mutation_p.M21I|NRG1_ENST00000287842.3_Missense_Mutation_p.M42I|NRG1_ENST00000520407.1_Missense_Mutation_p.M257I|NRG1_ENST00000523079.1_Missense_Mutation_p.M42I			Q02297	NRG1_HUMAN	neuregulin 1	42	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGAAAGAGATGAAAAGCCAGG	0.423000													11	58					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042167	75042167	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:75042167G>T	ENST00000343932.4	+	2	151	c.88G>T	c.(88-90)Ggt>Tgt	p.G30C		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	30					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGTGCTCAAGGGTTTGAGGCC	0.602000													113	210					1.26781e-57	1.29663e-57	1	1	0
DEFB115	245929	broad.mit.edu	37	20	29847349	29847349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:29847349G>A	ENST00000400552.1	+	2	181	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	61					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAAATGTGGGGAAAAACATAT	0.373000													14	35					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670431	49670431	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:49670431C>T	ENST00000561648.1	-	4	2685	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	ZNF423_ENST00000562520.1_Missense_Mutation_p.D818N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D878N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D761N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D818N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D818N|ZNF423_ENST00000567169.1_Missense_Mutation_p.D761N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	878					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCGTCCACGTCATCCTCGCTG	0.607000													22	22					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117002512	117002512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:117002512G>A	ENST00000356083.3	+	20	3131	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	914	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATTCCCAGGAGACATCGGCCC	0.622000													28	48					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376927	88376927	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:88376927C>T	ENST00000298699.2	-	12	1352	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.R352Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	391								p.R391Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAAAGGAATTCGTTTTCGCCA	0.264000													11	48					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089294	43089294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43089294C>T	ENST00000401850.1	-	2	1153	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	A4GALT_ENST00000381278.3_Missense_Mutation_p.A222T|A4GALT_ENST00000249005.2_Missense_Mutation_p.A222T			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	222					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGCTCGAAGGCCAGGAACGCG	0.627000													15	36					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76965164	76965164	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:76965164C>T	ENST00000261532.7	+	8	1464	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000380887.2_Intron|ESRRB_ENST00000509242.1_Intron			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATGTGCATTTCCTAACTCCCT	0.642000													3	16					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953661	8953661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8953661G>A	ENST00000595891.1	+	3	538	c.307G>A	c.(307-309)Gga>Aga	p.G103R	MBD3L1_ENST00000305625.2_Missense_Mutation_p.G103R			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	103	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TTACACAGGTGGATCTCTGCT	0.537000													7	17					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354476	220354476	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:220354476C>T	ENST00000312358.7	+	36	8868	c.8736C>T	c.(8734-8736)gcC>gcT	p.A2912A	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2912	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCACCAGCCCCTGAGCCCC	0.627000													69	25					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433037	10433037	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10433037C>T	ENST00000245503.5	-	24	3345	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.E987E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	987					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCTGCCATCTCTTCTGTGA	0.493000													35	90					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33163700	33163700	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33163700G>A	ENST00000374680.3	-	6	1318	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	RXRB_ENST00000544186.1_Silent_p.V179V|RXRB_ENST00000374685.4_Silent_p.V369V	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	369	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCAGCAATATGACCTGATCAT	0.507000													17	22					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70493934	70493934	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:70493934G>A	ENST00000310961.5	+	19	2194	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.V587V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	587						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAATTTGGTGGGTAAGCCAA	0.388000													35	40					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416994	138416994	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:138416994G>A	ENST00000263598.2	+	6	582	c.522G>A	c.(520-522)ggG>ggA	p.G174G	LCN1_ENST00000371781.3_Silent_p.G174G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	174					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCTCTCCAGGGAGCGATTAGG	0.572000													9	43					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885270	63885270	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:63885270G>A	ENST00000246841.3	+	2	2574	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	483					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GGTCACCATGGAGACCAGCAA	0.582000													12	36					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49073883	49073883	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:49073883G>A	ENST00000344532.3	-	13	1681	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	RCBTB2_ENST00000430805.2_Missense_Mutation_p.R425C|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R146C	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	420	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AATGACGAACGAAAATGCTCA	0.453000													7	23					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150749305	150749305	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:150749305G>A	ENST00000357922.4	+	9	2033	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	ASIC3_ENST00000349064.5_Missense_Mutation_p.R480K|ASIC3_ENST00000297512.8_Missense_Mutation_p.R480K	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	480					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CACTCCCAAAGGCACTCCAGC	0.612000													44	167					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182551259	182551259	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:182551259G>A	ENST00000367559.3	-	4	1954	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	RNASEL_ENST00000539397.1_Silent_p.F567F|RNASEL_ENST00000444138.1_Silent_p.F567F	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	567	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCCAGGATGGAAGAGACGAT	0.468000													53	87					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21546549	21546549	+	Missense_Mutation	SNP	G	G	A	rs142918103		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:21546549G>A	ENST00000415912.2	-	19	2289	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	ECE1_ENST00000357071.4_Missense_Mutation_p.R726W|ECE1_ENST00000374893.6_Missense_Mutation_p.R738W|ECE1_ENST00000436918.2_Missense_Mutation_p.R706W|ECE1_ENST00000264205.6_Missense_Mutation_p.R735W	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	738					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCGATGACCCGGAAGCGAGAG	0.612000													8	51					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113358	94113358	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:94113358T>A	ENST00000243673.2	-	4	1400	c.1229A>T	c.(1228-1230)aAg>aTg	p.K410M	GPR83_ENST00000539203.2_Missense_Mutation_p.K368M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	410						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGGTCTGTCTTCCCAGACTG	0.567000													12	22					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032923	49032923	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:49032923A>T	ENST00000226432.4	+	11	1637	c.1454A>T	c.(1453-1455)gAa>gTa	p.E485V	CWH43_ENST00000513409.1_Missense_Mutation_p.E458V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	485					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGCTAGGGGAAAAGTTGGGT	0.418000													21	75					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39513431	39513431	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:39513431G>A	ENST00000287152.7	-	11	1309	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	KIF6_ENST00000373216.3_Silent_p.D405D|KIF6_ENST00000373215.3_Silent_p.D405D|KIF6_ENST00000373213.4_Silent_p.D244D|KIF6_ENST00000538893.1_Silent_p.D405D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	405					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAATCCTGGTCTTCCAAAA	0.348000													15	80					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647194	37647194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:37647194G>A	ENST00000356958.4	-	3	394	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ZNF585A_ENST00000355533.2_5'UTR|ZNF585A_ENST00000292841.5_5'UTR|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_5'UTR			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGAGAAGGGTCCAGGTGC	0.522000													14	32					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331329	55331329	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55331329G>C	ENST00000391728.4	+	4	550	c.517G>C	c.(517-519)Gat>Cat	p.D173H	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D173H|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D78H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D173H|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D173H|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.D173H	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATCCATGATGGGGTCTC	0.507000													41	104					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039670	31039670	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:31039670G>A	ENST00000355537.3	+	4	3291	c.3144G>A	c.(3142-3144)gcG>gcA	p.A1048A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCGGGAGGCGAGTAAGATGG	0.537000													7	33					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812342	2812342	+	Missense_Mutation	SNP	C	C	T	rs115253860	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2812342C>T	ENST00000301740.8	+	11	2362	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	605	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGTAGGTCTCGGTCTAGAAC	0.607000													21	44					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534073	88534073	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:88534073T>G	ENST00000399271.1	+	4	855	c.735T>G	c.(733-735)agT>agG	p.S245R	DSPP_ENST00000282478.7_Missense_Mutation_p.S245R|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	245					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CCGATGGGAGTCCTAGTGGGA	0.468000													6	15					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866946	131866946	+	Silent	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:131866946T>A	ENST00000359827.3	-	17	4124	c.3162A>T	c.(3160-3162)ggA>ggT	p.G1054G	PLXNA4_ENST00000321063.4_Silent_p.G1054G			Q9HCM2	PLXA4_HUMAN	plexin A4	1054	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGTGTGTTTCCACTGAGCA	0.493000													24	36					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499872	90499872	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:90499872T>A	ENST00000325643.5	+	4	536	c.470T>A	c.(469-471)tTa>tAa	p.L157*		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CACCTGCCCTTAGGTGGAGAC	0.632000													10	31					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657981	143657981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143657981G>A	ENST00000392899.1	+	1	955	c.918G>A	c.(916-918)tgG>tgA	p.W306*		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W306C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTG	0.433000													19	37					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297166	44297166	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:44297166G>A	ENST00000329255.3	-	2	612	c.509C>T	c.(508-510)tCt>tTt	p.S170F		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	170					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CACAGTGTCAGAGTCAGGGGG	0.582000													11	47					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907323	164907323	+	Silent	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:164907323A>C	ENST00000475390.1	-	2	1739	c.1296T>G	c.(1294-1296)tcT>tcG	p.S432S	SLITRK3_ENST00000241274.3_Silent_p.S432S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	432						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GATCCAAGGAAGAAAAATTCC	0.403000										HNSCC(40;0.11)			15	55					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62149192	62149192	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:62149192C>T	ENST00000280772.1	-	1	296	c.105G>A	c.(103-105)cgG>cgA	p.R35R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	35					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTTTTCTTCCGATCCCGGG	0.398000													33	34					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031087	56031087	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:56031087A>C	ENST00000309675.2	+	1	444	c.412A>C	c.(412-414)Agc>Cgc	p.S138R		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CACCCTCTTGAGCCCACGGGC	0.597000													14	60					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142185496	142185496	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:142185496C>T	ENST00000519811.1	+	14	2543	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	DENND3_ENST00000424248.1_Silent_p.L693L|DENND3_ENST00000262585.2_Silent_p.L745L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	745										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAAGCGCCTGTTCCTCCT	0.532000											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	55					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819414	17819414	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:17819414G>A	ENST00000545871.1	-	3	1177	c.717C>T	c.(715-717)ccC>ccT	p.P239P	RAI2_ENST00000415486.3_Silent_p.P189P|RAI2_ENST00000451717.1_Silent_p.P239P|RAI2_ENST00000331511.1_Silent_p.P239P|RAI2_ENST00000360011.1_Silent_p.P239P	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	239	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCACAGGCAAGGGGACGATTA	0.602000													15	12					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394684	17394684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:17394684C>T	ENST00000394458.3	+	5	1387	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.R393*|ANKLE1_ENST00000433424.2_Nonsense_Mutation_p.R425*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.R360*|ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.R371*	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	371	LEM.					nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GAAGGGACTCCGAGCACTTGG	0.577000													19	30					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57585270	57585270	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:57585270C>T	ENST00000243077.3	+	44	7870	c.7404C>T	c.(7402-7404)atC>atT	p.I2468I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2468					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGGCATCATCGCCGTGGCCA	0.647000													8	44					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369770	139369770	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139369770G>A	ENST00000313050.7	-	1	2371	c.2298C>T	c.(2296-2298)tcC>tcT	p.S766S	SEC16A_ENST00000371706.3_Silent_p.S588S|SEC16A_ENST00000290037.6_Silent_p.S588S|SEC16A_ENST00000431893.2_Silent_p.S588S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	588					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACTGCTGCCCGGACATCGCCT	0.597000													13	21					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36997697	36997697	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:36997697C>T	ENST00000217407.2	+	10	1201	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	347					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCCTCTGCTCCGCTCCTGAAC	0.522000													26	148					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53337877	53337877	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:53337877C>T	ENST00000566029.1	+	31	6168	c.5959C>T	c.(5959-5961)Ctt>Ttt	p.L1987F	CHD9_ENST00000447540.1_Missense_Mutation_p.L1987F|CHD9_ENST00000398510.3_Missense_Mutation_p.L1987F|CHD9_ENST00000564845.1_Missense_Mutation_p.L1987F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1987					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTATCACATTCTTCGTGATCC	0.458000													29	23					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206691	121206691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121206691G>A	ENST00000264233.5	-	16	5215	c.5087C>T	c.(5086-5088)tCt>tTt	p.S1696F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1696					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTATTAGAAGAAAATGAAAT	0.303000								DNA polymerases (catalytic subunits)					11	39					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341989	121341989	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121341989T>G	ENST00000338040.4	+	3	2127	c.1713T>G	c.(1711-1713)aaT>aaG	p.N571K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	571	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGCCAGAATTCTTTAACCA	0.527000													22	59					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307305	39307305	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39307305C>T	ENST00000541347.1	-	2	935	c.696G>A	c.(694-696)ctG>ctA	p.L232L	CX3CR1_ENST00000399220.2_Silent_p.L232L|CX3CR1_ENST00000358309.3_Silent_p.L264L|CX3CR1_ENST00000542107.1_Silent_p.L232L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	232					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAGAAGGATCAGTTTAATGG	0.448000													17	52					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491562	128491562	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:128491562G>A	ENST00000325888.8	+	35	5983	c.5722G>A	c.(5722-5724)Gac>Aac	p.D1908N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D1875N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1908					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCTGTAAGGACAACAAGGA	0.612000													13	66					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482500	152482500	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:152482500G>A	ENST00000356661.5	-	3	729	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	171	MAGE.					cytoplasm|plasma membrane		p.L171F(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517000													81	17					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35742522	35742522	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:35742522G>A	ENST00000400441.3	-	20	2561	c.2562C>T	c.(2560-2562)tcC>tcT	p.S854S	MROH8_ENST00000217333.8_Silent_p.S683S|MROH8_ENST00000441008.2_Silent_p.S840S					maestro heat-like repeat family member 8																		AGAGAGTCACGGAGAAACGAT	0.478000													9	15					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994006	106994006	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106994006C>T	ENST00000390624.2	-	0	237																											GGACCCAGTTCATGCTATAGC	0.557000													89	49					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389425	117389425	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:117389425C>T	ENST00000321322.6	-	7	1447	c.1446G>A	c.(1444-1446)ggG>ggA	p.G482G	DSCAML1_ENST00000527706.1_Silent_p.G212G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	422	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGAACTGCTCCCCGGGGTTGA	0.672000													11	16					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398923	90398923	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:90398923C>T	ENST00000337338.5	+	3	703	c.296C>T	c.(295-297)tCc>tTc	p.S99F	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S99F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	99						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AACGACATTTCCTTTGGGACA	0.498000													8	20					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996152	140996152	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:140996152C>T	ENST00000285879.4	+	4	3248	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L	MAGEC1_ENST00000406005.2_Silent_p.L55L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	988	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGTGTCTGAGTGATGA	0.473000										HNSCC(15;0.026)			76	22					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619591	619591	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:619591G>A	ENST00000588649.2	-	13	3145	c.3061C>T	c.(3061-3063)Ccc>Tcc	p.P1021S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1021	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACCTGGGGAAAGTCGCTC	0.637000													23	55					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141304153	141304153	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:141304153C>T	ENST00000432126.2	+	2	173	c.39C>T	c.(37-39)ccC>ccT	p.P13P	KIAA0141_ENST00000194118.4_Silent_p.P13P	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	13					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCTTCCCCGTACACTGG	0.527000													13	64					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:97887590G>A	ENST00000356526.2	+	1	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000													24	120					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44806847	44806847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:44806847C>T	ENST00000260327.4	+	9	1584	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.Q269*|CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.Q269*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.Q341*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	341	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACGAATGTCTCAGATGTATGA	0.289000													15	53					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	102					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368641	111368641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:111368641C>T	ENST00000428084.1	-	53	5889	c.5617G>A	c.(5617-5619)Ggc>Agc	p.G1873S	DOCK4_ENST00000437633.1_Missense_Mutation_p.G1864S|DOCK4_ENST00000494651.2_Missense_Mutation_p.G747S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1864					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTTCAAAGCCTGAGGTTTCC	0.622000													16	92					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81171181	81171181	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:81171181G>A	ENST00000394685.3	+	4	633	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	KIAA1199_ENST00000356249.5_Missense_Mutation_p.V72I|KIAA1199_ENST00000220244.3_Missense_Mutation_p.V72I			Q8WUJ3	K1199_HUMAN	KIAA1199	72	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCTGCCACGGTCTATTCCAT	0.572000													14	75					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197009702	197009702	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:197009702A>T	ENST00000346964.2	-	4	355	c.166T>A	c.(166-168)Tat>Aat	p.Y56N	DLG1_ENST00000314062.3_Missense_Mutation_p.Y56N|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000422288.1_Missense_Mutation_p.Y56N|DLG1_ENST00000450955.1_Missense_Mutation_p.Y56N|DLG1_ENST00000357674.4_Missense_Mutation_p.Y56N|DLG1_ENST00000419354.1_Missense_Mutation_p.Y56N|DLG1_ENST00000448528.2_Missense_Mutation_p.Y56N|DLG1_ENST00000392382.2_Missense_Mutation_p.Y56N	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	56	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTCACTTCATAAAATTCTTGA	0.313000													28	110					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022389	189022389	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:189022389A>T	ENST00000512729.1	-	3	525	c.151T>A	c.(151-153)Ttt>Att	p.F51I	TRIML2_ENST00000326754.3_Missense_Mutation_p.F51I|TRIML2_ENST00000536972.1_Missense_Mutation_p.F101I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	51							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCTTTTTAAAATTTTGTTCC	0.358000													9	15					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681098	161681098	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161681098C>T	ENST00000367959.2	+	4	644	c.402C>T	c.(400-402)acC>acT	p.T134T	FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000236938.6_Silent_p.T128T|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000349527.4_Silent_p.T111T|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367953.3_Silent_p.T117T|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540926.1_Silent_p.T117T	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	111	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTCAGGTGACCTTCTACCGAG	0.597000													24	37					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772070	39772070	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39772070C>T	ENST00000328933.5	+	3	366	c.351C>T	c.(349-351)ttC>ttT	p.F117F	SYNGR1_ENST00000318801.4_Silent_p.F117F|SYNGR1_ENST00000381535.4_Silent_p.F118F|SYNGR1_ENST00000406293.3_Silent_p.F117F	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCTGGGCTTTCCTCTGGTTCG	0.632000													38	183					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086143	56086143	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56086143G>A	ENST00000312711.1	+	1	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121N(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATGTCCTACGACCTCTATGT	0.398000													12	53					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144645035	144645035	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144645035C>T	ENST00000526406.1	+	14	2299	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	GSDMD_ENST00000262580.4_Silent_p.S472S|GSDMD_ENST00000533063.1_Silent_p.S520S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	472				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTACGCCTCCCTGGCACTGC	0.672000													8	26					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409857	30409857	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30409857T>C	ENST00000320159.2	+	2	1662	c.1286T>C	c.(1285-1287)tTg>tCg	p.L429S		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	429	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTGCCTGGCTTGGAGCCAGAG	0.697000													33	29					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679360	100679360	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100679360C>T	ENST00000306151.4	+	3	4727	c.4663C>T	c.(4663-4665)Cct>Tct	p.P1555S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1555	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.493000													69	219					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153573855	153573855	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:153573855G>T	ENST00000304385.3	-	2	520	c.289C>A	c.(289-291)Ctt>Att	p.L97I	TMEM154_ENST00000504064.1_Missense_Mutation_p.L97I	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	97						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATGTTGCAAGGAATACCACG	0.318000													9	29					0.000274275	0.000275697	1	1	0
DEAF1	10522	broad.mit.edu	37	11	674722	674722	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:674722G>A	ENST00000382409.3	-	10	1801	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	DEAF1_ENST00000338675.6_Silent_p.P350P|DEAF1_ENST00000525904.1_5'UTR|RP11-754B17.1_ENST00000527799.1_RNA	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	439	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TGACCAACGCGGGAGGTGCCG	0.567000													38	77					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612751	31612751	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31612751G>A	ENST00000404765.2	-	10	1630	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	BAG6_ENST00000375964.6_Silent_p.P453P|BAG6_ENST00000362049.6_Silent_p.P447P|BAG6_ENST00000211379.5_Silent_p.P447P|BAG6_ENST00000375976.4_Silent_p.P447P|BAG6_ENST00000439687.2_Silent_p.P447P			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	453	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TCATGACCACGGGTTCCACAC	0.597000													50	199					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027793	19027793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19027793G>A	ENST00000304381.5	+	3	463	c.333G>A	c.(331-333)atG>atA	p.M111I	TMC7_ENST00000569532.1_Missense_Mutation_p.M111I|TMC7_ENST00000421369.3_Start_Codon_SNP_p.M1I	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	111						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGACACAAATGAAGTATCTCT	0.498000													7	28					0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90774220	90774220	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90774220G>A	ENST00000328649.6	-	6	661	c.500C>T	c.(499-501)aCc>aTc	p.T167I		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	167	EF-hand 2.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGGTTGATGGTTCCATCCCT	0.577000													13	180					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103358598	103358598	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:103358598G>A	ENST00000520539.1	-	7	1208	c.602C>T	c.(601-603)tCc>tTc	p.S201F	UBR5_ENST00000521922.1_Missense_Mutation_p.S201F|UBR5_ENST00000220959.4_Missense_Mutation_p.S201F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	201					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GACACTTCTGGATTTGCCTTG	0.333000													14	71					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151124995	151124995	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151124995C>T	ENST00000296550.7	+	5	1764	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	DCLK2_ENST00000506325.1_Missense_Mutation_p.S337F|DCLK2_ENST00000302176.8_Missense_Mutation_p.S354F	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	337	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTACGAAATCCTCCAGTTCC	0.393000													6	28					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010648	161010648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161010648G>A	ENST00000368021.3	-	8	779	c.575C>T	c.(574-576)cCc>cTc	p.P192L	USF1_ENST00000368019.1_Missense_Mutation_p.P164L|USF1_ENST00000368020.1_Missense_Mutation_p.P192L|USF1_ENST00000435396.1_Missense_Mutation_p.P133L	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	192					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTCGTCCGGGGAGCTTCTGA	0.478000													23	28					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149627	18149627	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:18149627C>T	ENST00000375406.1	+	2	340	c.124C>T	c.(124-126)Cct>Tct	p.P42S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	42						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGGAGAACCCTGGCCCCAG	0.597000													37	55					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149772279	149772279	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149772279C>T	ENST00000451292.1	+	23	3745	c.3637C>T	c.(3637-3639)Ccc>Tcc	p.P1213S	TCOF1_ENST00000504761.2_Missense_Mutation_p.P1176S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P1176S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1139S|TCOF1_ENST00000323668.7_Missense_Mutation_p.P1099S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P1100S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P1177S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1176					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637000													5	34					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545183	54545183	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:54545183C>T	ENST00000338372.2	-	7	715	c.540G>A	c.(538-540)gaG>gaA	p.E180E	VSTM1_ENST00000376626.1_Silent_p.E149E|VSTM1_ENST00000366170.2_Silent_p.E92E|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	180						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAGCCTCCTGCTCCGGAAGTT	0.498000													13	22					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049273	184049273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:184049273C>T	ENST00000342981.4	+	29	4691	c.4277C>T	c.(4276-4278)aCc>aTc	p.T1426I	EIF4G1_ENST00000414031.1_Missense_Mutation_p.T1385I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.T1432I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.T1262I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.T1339I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.T1261I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.T1338I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.T1386I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.T1432I|EIF4G1_ENST00000346169.2_Missense_Mutation_p.T1425I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.T1229I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.T1425I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.T1432I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.T1230I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1425					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGTATACCCTGGGAGAG	0.557000													44	136					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95158228	95158228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:95158228G>A	ENST00000027335.3	-	15	2219	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	CDH17_ENST00000441892.2_Missense_Mutation_p.R485W|CDH17_ENST00000450165.2_Missense_Mutation_p.R699W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	699	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGGGGACCCCGAAATAAGTGC	0.463000													9	36					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062304	144062304	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:144062304C>T	ENST00000056217.5	+	2	2716	c.2542C>T	c.(2542-2544)Ccc>Tcc	p.P848S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	848					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CATAGACCCTCCCACCGAACC	0.597000													5	51					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301182	110301182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:110301182G>A	ENST00000369805.3	-	7	797	c.568C>T	c.(568-570)Cct>Tct	p.P190S	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P189S|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P189S	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	189	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGTTCTGGAGGGATCCCCGGC	0.582000													16	63					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169158913	169158913	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:169158913A>T	ENST00000393743.3	-	31	4489	c.4198T>A	c.(4198-4200)Ttc>Atc	p.F1400I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1400							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGTTGCTTGAAGGACAGCAAT	0.358000													7	23					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163685	159163685	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159163685T>A	ENST00000368125.4	+	5	703	c.546T>A	c.(544-546)gaT>gaA	p.D182E	CADM3_ENST00000368124.4_Missense_Mutation_p.D216E	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	182	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACAGGAAGATCCCAATGGTA	0.493000													16	22					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90344760	90344760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90344760G>A	ENST00000300060.6	-	11	1961	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	550	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTGATGACCGGGAAGCCCATC	0.612000													26	134					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10584230	10584230	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:10584230G>A	ENST00000234111.4	-	5	950	c.440C>T	c.(439-441)cCc>cTc	p.P147L	ODC1_ENST00000405333.1_Missense_Mutation_p.P147L|ODC1_ENST00000446285.1_5'UTR	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	147					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CTTTGCTTTGGGATGTGCTCT	0.358000													54	127					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321651	79321651	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:79321651C>T	ENST00000428286.1	-	8	5662	c.4462G>A	c.(4462-4464)Gag>Aag	p.E1488K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1847K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1847					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAGACAGCTCCCTTTCAAAT	0.493000													7	3					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123985898	123985898	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:123985898G>A	ENST00000369005.1	+	13	7966	c.7626G>A	c.(7624-7626)ccG>ccA	p.P2542P	TACC2_ENST00000369004.3_Silent_p.P632P|TACC2_ENST00000334433.3_Silent_p.P2542P|TACC2_ENST00000368999.1_Silent_p.P632P|TACC2_ENST00000360561.3_Silent_p.P620P|TACC2_ENST00000369001.1_Silent_p.P246P|TACC2_ENST00000369000.1_Silent_p.P242P|TACC2_ENST00000515273.1_Silent_p.P2546P|TACC2_ENST00000358010.1_Silent_p.P688P|TACC2_ENST00000260733.3_Silent_p.P620P|TACC2_ENST00000513429.1_Silent_p.P688P|TACC2_ENST00000515603.1_Silent_p.P2497P|TACC2_ENST00000453444.2_Silent_p.P2546P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2542						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGATGCCCCGAAGAAGCAGG	0.537000													6	18					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010396	71010396	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:71010396G>A	ENST00000354624.5	+	12	1957	c.1824G>A	c.(1822-1824)atG>atA	p.M608I	HKDC1_ENST00000395086.2_Missense_Mutation_p.M608I	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	608	Glucose-binding (Potential).				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCAGGCAGATGAGCATTGACA	0.567000													20	77					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537946	36537946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:36537946G>A	ENST00000397293.2	-	4	645	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000349314.2_Missense_Mutation_p.R171C|APOL3_ENST00000361710.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	171					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GCAAGGGCACGAAGCTTTTCT	0.502000													18	71					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676661	7676661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:7676661C>T	ENST00000446248.2	+	13	1464	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R428C	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	428	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGTGCTCCTCCGCTCTGTGAG	0.716000													5	4					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170290	113170290	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113170290G>A	ENST00000401783.2	-	38	7926	c.7590C>T	c.(7588-7590)ctC>ctT	p.L2530L	SVEP1_ENST00000374469.1_Silent_p.L2507L|SVEP1_ENST00000297826.5_Silent_p.L456L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2530	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGACCTTCGAGCCGAAAGC	0.493000													6	24					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327654	28327654	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28327654C>T	ENST00000377255.3	+	3	588	c.291C>T	c.(289-291)atC>atT	p.I97I	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Silent_p.I97I	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	97	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCCTGACCATCCTGCCGGGGA	0.617000													10	64					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890060	139890060	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139890060G>A	ENST00000303045.6	-	3	1037	c.591C>T	c.(589-591)gtC>gtT	p.V197V	COL22A1_ENST00000435777.1_Silent_p.V197V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	197	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACACGTGGAAGACGTGGGCGG	0.667000										HNSCC(7;0.00092)			14	32					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149457785	149457785	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149457785G>A	ENST00000286301.3	-	5	910	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	CSF1R_ENST00000543093.1_Silent_p.L207L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	207	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCAGGCACCAGTGTCAAGGCT	0.582000													7	27					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236032	140236032	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140236032C>T	ENST00000307360.5	+	1	399	c.399C>T	c.(397-399)tcC>tcT	p.S133S	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.S133S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTTCTCCGTAACAGAAC	0.522000													4	147					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146908	70146908	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:70146908G>A	ENST00000335568.5	+	1	692	c.690G>A	c.(688-690)aaG>aaA	p.K230K	UGT2B28_ENST00000511240.1_Silent_p.K230K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	230					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTGATATGAAGAAGTGGGATC	0.313000													15	49					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3551793	3551793	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3551793G>A	ENST00000378322.3	-	7	727	c.669C>T	c.(667-669)tcC>tcT	p.S223S	WRAP73_ENST00000270708.7_Silent_p.S223S			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	223						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGATGCCCAGGGACCACTCGT	0.517000													10	47					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997730	28997730	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:28997730C>T	ENST00000395456.2	+	5	595	c.273C>T	c.(271-273)tcC>tcT	p.S91S	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Intron|LAT_ENST00000395461.3_Silent_p.S127S|LAT_ENST00000360872.5_Silent_p.S91S|LAT_ENST00000566177.1_Silent_p.S90S|LAT_ENST00000564277.1_Silent_p.S90S|LAT_ENST00000454369.2_Silent_p.S90S|LAT_ENST00000563964.1_3'UTR	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	91					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TTGGGGGCTCCCACCGGACGC	0.637000													42	55					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37618032	37618032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:37618032C>T	ENST00000434837.2	-	8	2640	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	MDGA1_ENST00000297153.7_Missense_Mutation_p.G488R|MDGA1_ENST00000505425.1_Missense_Mutation_p.G488R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	488	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGGGCAGCCCCGAGGGCAGC	0.701000													9	17					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271019	1271019	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1271019G>A	ENST00000447027.1	+	31	12976	c.12918G>A	c.(12916-12918)agG>agA	p.R4306R	MUC5B_ENST00000529681.1_Silent_p.R4303R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4303	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGTCCAAGGACTGCAACCA	0.632000													52	116					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849777	1849777	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:1849777C>T	ENST00000378602.3	-	1	459	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TMEM52_ENST00000310991.3_Silent_p.Q88Q			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	88						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGATGTGGCTGGGCCTGTG	0.627000													19	35					0	0	1	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199151	107199151	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:107199151G>A	ENST00000433072.2	-	0	217																											CACTGAAGGTGAATCCAGAGG	0.587000													49	29					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14958792	14958792	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:14958792G>A	ENST00000285046.5	+	12	3552	c.3442G>A	c.(3442-3444)Gat>Aat	p.D1148N	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.D907N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1148	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCCCAGAAGGATGGGAAGTA	0.582000													5	22					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63527019	63527019	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:63527019G>A	ENST00000536984.2	+	10	2264	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH7_ENST00000397968.2_Missense_Mutation_p.D524N|CDH7_ENST00000323011.3_Missense_Mutation_p.D524N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTTAACAACGGATGCAACAAA	0.363000													16	7					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22591460	22591460	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22591460C>T	ENST00000390455.3	+	0	185																											ACTCTGGGTCCACAATCCTCA	0.448000													4	2					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89339334	89339334	+	Silent	SNP	G	G	A	rs148050831	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:89339334G>A	ENST00000286614.6	-	1	383	c.102C>T	c.(100-102)gtC>gtT	p.V34V	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	34					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCGTTCCGCAGACTGTAGCAC	0.498000													13	36					0	0	1	0	0
HNMT	3176	broad.mit.edu	37	2	138759652	138759652	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:138759652C>T	ENST00000280097.3	+	4	499	c.317C>T	c.(316-318)tCg>tTg	p.S106L	HNMT_ENST00000410115.1_Missense_Mutation_p.S106L|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	106					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GCCAAGACATCGAACCTCGAG	0.363000													14	18					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131418796	131418796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:131418796G>A	ENST00000512055.1	-	8	2515	c.389C>T	c.(388-390)tCc>tTc	p.S130F	CPNE4_ENST00000512332.1_Missense_Mutation_p.S148F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S148F|CPNE4_ENST00000511604.1_Missense_Mutation_p.S130F|CPNE4_ENST00000429747.1_Missense_Mutation_p.S130F			Q96A23	CPNE4_HUMAN	copine IV	130	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTTCAGCAAGGATTTGGACAG	0.448000													11	18					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90070088	90070088	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:90070088C>T	ENST00000405460.2	+	60	12467	c.12371C>T	c.(12370-12372)tCa>tTa	p.S4124L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4124					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCTGATATCAATTGATGAG	0.363000													4	21					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110240892	110240892	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110240892G>A	ENST00000418703.2	-	3	710	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	TRPV4_ENST00000544971.1_Missense_Mutation_p.R206C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R172C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R206C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R206C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R206C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R206C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R206C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	206					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTGTCGTTGCGGCCATTGCTC	0.582000													7	26					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140742014	140742014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140742014C>T	ENST00000522605.1	+	1	2312	c.2312C>T	c.(2311-2313)aCc>aTc	p.T771I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACATAACCCCGGAATTG	0.488000													29	88					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813839	106813839	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:106813839T>A	ENST00000407775.2	+	8	1779	c.1529T>A	c.(1528-1530)gTc>gAc	p.V510D	ZFPM2_ENST00000378472.4_Missense_Mutation_p.V241D|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.V378D|ZFPM2_ENST00000520492.1_Missense_Mutation_p.V378D|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	510					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCACCATGGTCCCTCAAGCT	0.502000													5	117					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699077	17699077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:17699077C>T	ENST00000353383.1	+	3	3284	c.2815C>T	c.(2815-2817)Cag>Tag	p.Q939*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.Q939*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	939			Q -> P (in dbSNP:rs1759075).			cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTCAAAGGTCCAGAGCTGGTT	0.637000													10	32					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780866	96780866	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:96780866G>A	ENST00000409345.3	-	1	1118	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	344					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCCTGCCCAGGAGCACCTGGC	0.692000													3	8					0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	120991240	120991240	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:120991240A>T	ENST00000359943.3	-	9	764	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	184					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					CCCACCACAGAAGACCCAGTT	0.423000													24	49					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942540	11942540	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11942540C>T	ENST00000304060.5	+	4	713	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTTTATTTCCCATTCAAGTG	0.398000													27	62					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678234	66678234	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:66678234G>A	ENST00000360242.5	+	7	1444	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	CCDC102B_ENST00000584156.1_Missense_Mutation_p.E443K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E443K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	443								p.E443*(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAATATTGCAGAACTGACTCA	0.343000													10	9					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386869	45386869	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:45386869G>A	ENST00000389039.6	-	33	4801	c.4416C>T	c.(4414-4416)ttC>ttT	p.F1472F	DUOX2_ENST00000603300.1_Silent_p.F1472F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1472					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCACTTTCTGGAAGTGCCGCT	0.627000													5	25					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879911	27879911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27879911G>A	ENST00000303324.2	-	1	263	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGATTGCTAAGAAAAAAGTAC	0.388000													6	41					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483096	158483096	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:158483096G>A	ENST00000355585.4	+	8	1102	c.1027G>A	c.(1027-1029)Ggt>Agt	p.G343S	SYNJ2_ENST00000367122.2_Missense_Mutation_p.G343S|SYNJ2_ENST00000367121.3_Missense_Mutation_p.G343S|SYNJ2_ENST00000449859.2_Missense_Mutation_p.G271S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	343	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTTTGCCAAAGGTGGGAAGCT	0.537000													52	109					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23563520	23563520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23563520C>T	ENST00000449606.1	-	2	276	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EARS2_ENST00000564501.1_Missense_Mutation_p.R82H|EARS2_ENST00000563232.1_Missense_Mutation_p.R82H|EARS2_ENST00000563459.1_Missense_Mutation_p.R82H	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	82					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	AGGCACAACGCGAGTCTGATC	0.547000													17	64					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67086709	67086709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67086709G>A	ENST00000276573.7	+	11	1842	c.1616G>A	c.(1615-1617)tGg>tAg	p.W539*	TRIM55_ENST00000315962.4_Missense_Mutation_p.G510R|TRIM55_ENST00000353317.5_Missense_Mutation_p.G414R|TRIM55_ENST00000350034.4_Missense_Mutation_p.G203R	NM_033058.2	NP_149047.2	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	0						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATTGCAGATTGGATTTGAGGC	0.453000													19	60					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122413480	122413480	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:122413480C>T	ENST00000288912.4	+	19	3749	c.2895C>T	c.(2893-2895)ctC>ctT	p.L965L		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	965							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATTCTCAGCTCCGCAGTCAAG	0.438000													13	27					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997356	19997356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:19997356G>A	ENST00000391403.2	-	1	522	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	140						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TATCCTTTTGGAAATATCCGC	0.358000													24	58					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	432368	432368	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:432368G>A	ENST00000399788.2	-	16	2517	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	KDM5A_ENST00000382815.4_Missense_Mutation_p.R719C	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	719					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATGGGTAGCGATATCTACaa	0.318000			T	NUP98	AML								8	7					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139769	50139769	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:50139769G>A	ENST00000371564.3	-	2	1230	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	NFATC2_ENST00000396009.3_Silent_p.S337S|NFATC2_ENST00000414705.1_Silent_p.S317S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	337					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCCGGCCTTGGATGGGGCGG	0.672000													23	73					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:93015490G>A	ENST00000333334.2	+	1	607	c.112G>A	c.(112-114)Gga>Aga	p.G38R	C15orf32_ENST00000556865.1_Missense_Mutation_p.G38R	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													11	167					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474096	28474096	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28474096C>T	ENST00000361902.1	-	3	401	c.352G>A	c.(352-354)Ggt>Agt	p.G118S	GPX6_ENST00000474923.1_Missense_Mutation_p.G118S	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	118					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CACTTGAGACCAAGAAGTATT	0.473000													6	40					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886169	88886169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:88886169C>T	ENST00000319675.3	-	1	127	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	11								p.E11*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTGTCTGCTTCCTCGAGCAGT	0.522000													10	43					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124993032	124993032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:124993032C>T	ENST00000522917.1	+	11	1597	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	FER1L6_ENST00000399018.1_Missense_Mutation_p.S464L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	464						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGGTGGAATCGTTCGATGTC	0.493000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	9					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	95001533	95001533	+	Missense_Mutation	SNP	C	C	T	rs2375003		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:95001533C>T	ENST00000265627.5	-	4	329	c.319G>A	c.(319-321)Gac>Aac	p.D107N	PON3_ENST00000427422.1_Missense_Mutation_p.D107N|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			AATTCTTTGTCAAATCCACCA	0.398000													11	67					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175506	207175506	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:207175506G>T	ENST00000374423.3	+	5	6640	c.6254G>T	c.(6253-6255)aGg>aTg	p.R2085M		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2085							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CATTTTAATAGGAGCAACCAA	0.413000													20	15					0.00121646	0.00122131	1	1	0
SYCE1	93426	broad.mit.edu	37	10	135369161	135369161	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:135369161G>A	ENST00000368517.3	-	11	800	c.662C>T	c.(661-663)gCt>gTt	p.A221V	SYCE1_ENST00000343131.5_Missense_Mutation_p.A257V|SYCE1_ENST00000432597.2_Missense_Mutation_p.A221V|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	257					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		gcgctgggcagcagctgctAG	0.662000													10	46					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136974685	136974685	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:136974685G>A	ENST00000508657.1	-	10	1794	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	KLHL3_ENST00000506491.1_Silent_p.L310L|KLHL3_ENST00000309755.4_Silent_p.L392L|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Intron	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	392						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCAAGTCATTGAGCACCGCTG	0.597000													4	19					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170417084	170417084	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:170417084G>A	ENST00000453153.2	-	5	1130	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	FASTKD1_ENST00000453929.2_Missense_Mutation_p.H262Y	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	262					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAATCAAGGTGGTCCACATTA	0.284000													11	18					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921246	60921246	+	Silent	SNP	C	C	T	rs141164486		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:60921246C>T	ENST00000252999.3	-	10	1374	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	LAMA5_ENST00000370692.3_Silent_p.T436T|LAMA5_ENST00000370677.3_Silent_p.T436T	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	436	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTGCCATCCGTGAAGTCGG	0.647000													9	2					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662654	49662654	+	Silent	SNP	C	C	T	rs150855300	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49662654C>T	ENST00000296452.4	+	2	585	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	157					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCCTACTCCGTCCCTCAGA	0.632000													13	46					0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159707958	159707958	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:159707958C>T	ENST00000305579.2	+	2	430	c.123C>T	c.(121-123)ctC>ctT	p.L41L	IL12A_ENST00000466512.1_Silent_p.L41L|IL12A_ENST00000480787.1_Silent_p.L41L|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	7					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCCAGGCCTCCTCCTTGTGG	0.602000													20	36					0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34106267	34106267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:34106267G>A	ENST00000250144.8	-	2	501	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	58					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGCTGAATCGAGTGGAGGTG	0.542000													8	9					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996589	39996589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39996589G>A	ENST00000336649.4	+	5	413	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CACNA1I_ENST00000404898.1_Missense_Mutation_p.G138E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G138E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G138E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G138E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G138E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	138					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGGCCCTGGGGATTTTTGGC	0.562000													11	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066182	9066182	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9066182G>A	ENST00000397910.4	-	3	21467	c.21264C>T	c.(21262-21264)ccC>ccT	p.P7088P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7090	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCCAGAGAGGGAGAGCTTT	0.498000													18	26					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878443	5878443	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5878443G>A	ENST00000537935.1	-	1	521	c.490C>T	c.(490-492)Cca>Tca	p.P164S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACACCAGTGGAACAACCATG	0.522000													26	85					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449478	104449478	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104449478G>A	ENST00000361820.3	-	2	1304	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	235					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAGGTGAAGGGGATTCTGTAT	0.343000													16	45					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520823	70520823	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:70520823C>T	ENST00000265872.6	+	16	2099	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	CCAR1_ENST00000543719.1_Silent_p.S645S|CCAR1_ENST00000535016.1_Silent_p.S645S	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	660	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GATTAAAATCCCAGTTAATAG	0.363000													15	59					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41600975	41600975	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:41600975C>T	ENST00000313860.7	+	4	330	c.276C>T	c.(274-276)ctC>ctT	p.L92L	LIMCH1_ENST00000512820.1_Silent_p.L92L|LIMCH1_ENST00000511496.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000508501.1_Silent_p.L92L|LIMCH1_ENST00000512946.1_Silent_p.L92L|LIMCH1_ENST00000512632.1_Silent_p.L92L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	92	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAAAGAGCTCGGCCTTAAAG	0.353000													4	23					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221195	63221195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:63221195C>T	ENST00000449996.3	+	18	1546	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	RGS9_ENST00000443584.3_Missense_Mutation_p.P492S|RGS9_ENST00000262406.9_Missense_Mutation_p.P495S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	495					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCTTCTAGCCCCTTCTCCTC	0.647000													33	220					0	0	1	0	0
ASB1	51665	broad.mit.edu	37	2	239353082	239353082	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:239353082C>T	ENST00000264607.4	+	4	841	c.594C>T	c.(592-594)atC>atT	p.I198I	ASB1_ENST00000409297.1_Silent_p.I97I	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	198					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CCTTGTACATCAGCGCAGCCT	0.597000													8	20					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167698	140167698	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140167698C>T	ENST00000504120.2	+	1	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S608F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCCTATGAACTG	0.677000													38	96					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27004568	27004568	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:27004568G>A	ENST00000382009.3	+	7	1351	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	STIM2_ENST00000467011.1_Missense_Mutation_p.E275K|STIM2_ENST00000412829.2_Missense_Mutation_p.E362K|STIM2_ENST00000237364.5_Missense_Mutation_p.E362K|STIM2_ENST00000465503.1_Missense_Mutation_p.E275K|STIM2_ENST00000467087.1_Missense_Mutation_p.E275K	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	275					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GGCACAGGAAGAAAACAGAAA	0.328000													18	25					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190335	101190335	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:101190335A>T	ENST00000294728.2	+	4	918	c.817A>T	c.(817-819)Aat>Tat	p.N273Y	VCAM1_ENST00000370115.1_Missense_Mutation_p.N273Y|VCAM1_ENST00000347652.2_Missense_Mutation_p.N273Y|VCAM1_ENST00000370119.4_Missense_Mutation_p.N211Y	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	273	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTTCTGGAAATGCAACTCT	0.413000													13	21					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583504	10583504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10583504G>A	ENST00000304501.1	-	2	989	c.911C>T	c.(910-912)tCc>tTc	p.S304F	SOX7_ENST00000554914.1_Missense_Mutation_p.S356F|SOX7_ENST00000553390.1_Missense_Mutation_p.S356F	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	304	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGAGGCGGGGAAAGCTGGCC	0.607000													15	21					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922244	24922244	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922244C>T	ENST00000329468.2	+	1	1704	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCACAGACTCCCTGCCCCTGA	0.557000													28	44					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645520	122645520	+	Silent	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:122645520T>C	ENST00000195173.4	-	9	1158	c.855A>G	c.(853-855)ccA>ccG	p.P285P	SEMA5B_ENST00000357599.3_Silent_p.P285P|SEMA5B_ENST00000451055.2_Silent_p.P339P			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	285	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCACGAAGTTTGGCTCTGGGT	0.582000													7	44					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873523	64873523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:64873523G>A	ENST00000533854.1	+	2	310	c.73G>A	c.(73-75)Ggt>Agt	p.G25S	CACNG5_ENST00000169565.3_Missense_Mutation_p.G25S|CACNG5_ENST00000307139.3_Missense_Mutation_p.G25S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	25					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGGCCTCCTGGGTATCGCGGT	0.597000													31	88					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230938	1230938	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:1230938G>A	ENST00000381312.1	-	9	2231	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	ADARB2_ENST00000381305.1_Missense_Mutation_p.P38S|ADARB2_ENST00000381310.3_Missense_Mutation_p.P145S	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	636	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATGCTGAAGGGGGGCGACTTC	0.677000													6	21					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359494	70359494	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:70359494C>T	ENST00000305107.6	-	2	833	c.787G>A	c.(787-789)Gat>Aat	p.D263N	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D127N|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D263N	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	263					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATTGAAAATCCCAGTAGTTT	0.418000													47	51					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769144	88769144	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:88769144C>T	ENST00000444431.1	+	0	3744				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCGCCTTTCCCGTGTGCGATC	0.527000													66	186					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893173	76893173	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:76893173C>T	ENST00000409709.3	+	24	3353	c.3081C>T	c.(3079-3081)ctC>ctT	p.L1027L	MYO7A_ENST00000409893.1_Silent_p.L1027L|MYO7A_ENST00000409619.2_Silent_p.L1016L|MYO7A_ENST00000458637.2_Silent_p.L1027L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1027	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCCACTGCTCTACCATGACG	0.602000													13	37					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2087431	2087431	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:2087431C>T	ENST00000511885.2	-	21	2459	c.2106G>A	c.(2104-2106)caG>caA	p.Q702Q	POLN_ENST00000382865.1_Silent_p.Q702Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	702					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGGCAGCTTCCTGAATAGGAA	0.527000								DNA polymerases (catalytic subunits)					41	189					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408964	179408964	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179408964C>T	ENST00000589042.1	-	345	96216	c.95992G>A	c.(95992-95994)Gaa>Aaa	p.E31998K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29430K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30357K|TTN_ENST00000359218.5_Missense_Mutation_p.E23058K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22933K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23125K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30357	Ig-like 142.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATTGATTCGCTGTATTCG	0.383000													29	9					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18622975	18622975	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:18622975G>A	ENST00000440756.2	-	9	2264	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	PSD3_ENST00000523619.1_Missense_Mutation_p.S654F|PSD3_ENST00000286485.8_Missense_Mutation_p.S185F|PSD3_ENST00000327040.8_Missense_Mutation_p.S719F			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	720	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGATCCTTGGAGAAATCAAC	0.398000													24	79					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148982	125148982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:125148982G>A	ENST00000362012.2	+	9	1272	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000373698.5_Missense_Mutation_p.D314N|PTGS1_ENST00000540753.1_Intron	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	423					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GGCCCTGGTGGATGCCTTCTC	0.592000													7	46					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324716	7324716	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7324716C>T	ENST00000323675.3	+	3	747	c.722C>T	c.(721-723)cCc>cTc	p.P241L	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	241					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTCCCAGCTCCCACCCTGGGC	0.657000													9	24					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14951475	14951475	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:14951475C>T	ENST00000287667.7	+	11	1354	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	395						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAAAATTGCACCGAACACACC	0.478000													58	43					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100388730	100388730	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100388730C>T	ENST00000542585.1	+	0	7669				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCTGCGCTTCCCCAGGTGCA	0.607000													4	16					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14689583	14689583	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:14689583G>A	ENST00000240617.5	-	5	1272	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	207					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGAGTGAGGGAATCAGATC	0.443000													11	63					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998726	33998726	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:33998726G>A	ENST00000373381.4	-	64	10271	c.10095C>T	c.(10093-10095)ttC>ttT	p.F3365F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3221						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTGAGGGAGAAGCCCTCCT	0.657000													12	19					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280863	280863	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:280863G>A	ENST00000534750.1	+	4	1334	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	NLRP6_ENST00000312165.5_Missense_Mutation_p.E377K	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	377	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTTCGTGAAGGAGAACGAGAC	0.622000													14	95					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011960	160011960	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:160011960G>A	ENST00000368089.3	-	2	589	c.363C>T	c.(361-363)ttC>ttT	p.F121F	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	121						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCAAGGGAGAAGAGGAAGG	0.577000													37	59					0	0	1	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197133	89197133	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:89197133C>T	ENST00000390244.2	+	0	241																											CCAACAGAAACCAGGAGAAGC	0.463000													24	60					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139937542	139937542	+	Silent	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139937542A>G	ENST00000371600.3	-	1	1002	c.330T>C	c.(328-330)ccT>ccC	p.P110P	NPDC1_ENST00000371601.4_Intron|NPDC1_ENST00000488145.1_Intron			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	32						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGAAGCAGAAGGCAGGGCCG	0.731000													5	20					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21147271	21147271	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:21147271C>T	ENST00000377122.4	-	9	1197	c.801G>A	c.(799-801)gtG>gtA	p.V267V	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	267					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTTGTACTTCACCTATGAAA	0.323000													8	17					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530082	140530082	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140530082G>T	ENST00000231136.1	+	1	244	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		82	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGACCCATGATTTACTGCT	0.527000													19	75					1.56452e-12	1.58784e-12	1	1	0
ZFP91	80829	broad.mit.edu	37	11	58379782	58379782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58379782C>T	ENST00000316059.6	+	7	1060	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.P297S	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	297					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGACAAAAGTCCACGTTTACC	0.393000													4	19					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32148937	32148937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:32148937G>A	ENST00000373672.3	-	35	2929	c.2413C>T	c.(2413-2415)Cag>Tag	p.Q805*	COL16A1_ENST00000271069.6_Nonsense_Mutation_p.Q804*|COL16A1_ENST00000373668.3_Nonsense_Mutation_p.Q805*	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	805	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGACGTACCTGAATGCCAGGC	0.612000													132	304					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544089	186544089	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:186544089C>T	ENST00000431808.1	-	14	3045	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	SORBS2_ENST00000355634.5_Missense_Mutation_p.D928N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.D828N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.D732N|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	828						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCGCCACGGTCTTGGTGGTGG	0.527000													19	34					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847694	123847694	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:123847694G>A	ENST00000531945.1	-	1	794	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGCTGCCACGATGAAGATGT	0.592000													20	8					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832295	86832295	+	Silent	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:86832295A>T	ENST00000237455.4	-	4	1697	c.729T>A	c.(727-729)ctT>ctA	p.L243L	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	243					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGGGCTGGTCAAGGTTTGCAA	0.338000													9	28					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513807	99513807	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513807C>T	ENST00000261037.3	+	5	1442	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	COL8A1_ENST00000273342.4_Silent_p.G354G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	354	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGAAACCAGGCTTCCCAGGAC	0.622000													20	16					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533023	165533023	+	Nonsense_Mutation	SNP	C	C	T	rs144838654	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:165533023C>T	ENST00000294818.1	+	2	1194	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	302						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTTTCAAACCCAGACGAGCTC	0.567000													19	64					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007540	53007540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53007540C>T	ENST00000305748.3	-	5	950	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	306	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGCACGGACCTCAGCAATG	0.582000													23	83					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91428316	91428316	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91428316G>A	ENST00000328850.3	+	2	183	c.41G>A	c.(40-42)gGg>gAg	p.G14E	FES_ENST00000394300.3_Missense_Mutation_p.G14E|FES_ENST00000450438.2_Missense_Mutation_p.G14E|FES_ENST00000444422.2_Missense_Mutation_p.G14E|FES_ENST00000394302.1_Missense_Mutation_p.G14E|FES_ENST00000414248.2_Missense_Mutation_p.G14E	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	14	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGGGCCACGGGGTCCTGCAG	0.617000													49	653					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77242566	77242566	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:77242566G>A	ENST00000167106.4	+	5	1495	c.862G>A	c.(862-864)Gat>Aat	p.D288N	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	288					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCTGGGCCGCGATGACTTCCG	0.701000													3	16					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20373828	20373828	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:20373828G>A	ENST00000302451.4	-	10	1562	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	438	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGATAATTGTGGAGTGGTTTT	0.483000													19	18					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364789	30364789	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30364789G>A	ENST00000305596.3	-	5	883	c.708C>T	c.(706-708)acC>acT	p.T236T	CD2BP2_ENST00000569466.1_Silent_p.T236T	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	236					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GGGGTCCTAGGGTCTGACACC	0.622000													13	55					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100523245	100523245	+	Missense_Mutation	SNP	C	C	T	rs147230521		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:100523245C>T	ENST00000376355.3	+	6	785	c.754C>T	c.(754-756)Cct>Tct	p.P252S	CLYBL_ENST00000339105.4_Missense_Mutation_p.P286S|CLYBL_ENST00000376354.1_Missense_Mutation_p.P252S|CLYBL_ENST00000444838.2_Missense_Mutation_p.P252S|CLYBL_ENST00000376360.1_Missense_Mutation_p.P286S	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	286					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTTTTCTCCTTCCCCTGA	0.408000													24	12					0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62317022	62317022	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:62317022C>T	ENST00000494481.1	+	5	514	c.200C>T	c.(199-201)tCa>tTa	p.S67L	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.S67L|C3orf14_ENST00000232519.5_Missense_Mutation_p.S67L|C3orf14_ENST00000462069.1_Missense_Mutation_p.S67L			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	67										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		GCAGAAAAGTCACTACAGACC	0.393000													13	33					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45758822	45758822	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45758822G>A	ENST00000357450.4	-	16	2504	c.2505C>T	c.(2503-2505)atC>atT	p.I835I	SMC1B_ENST00000404354.3_Silent_p.I835I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	835					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATGTGTTGATCTTATTCA	0.313000													16	41					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784255	8784255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:8784255C>T	ENST00000359865.3	+	6	1287	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	SOGA2_ENST00000517570.1_Missense_Mutation_p.P382L|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.P382L|SOGA2_ENST00000306329.11_Missense_Mutation_p.P742L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	733																	GCCCCCAGTCCCCGGGACAGC	0.682000													8	21					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67298951	67298951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:67298951G>A	ENST00000392676.3	-	8	1091	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L343F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L343F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	343					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATTATCATAAGGCCAATAAAT	0.338000													21	18					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136221611	136221611	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:136221611G>A	ENST00000383202.2	-	8	943	c.687C>T	c.(685-687)ctC>ctT	p.L229L	STAG1_ENST00000434713.2_Silent_p.L3L|STAG1_ENST00000236698.5_Silent_p.L229L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	229					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GAGCAGTCATGAGCTTCATGG	0.333000													9	29					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922221	13922221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13922221C>T	ENST00000265104.4	-	5	759	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	219	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCACCTTCTCCTTCAGACTC	0.488000									Kartagener syndrome				13	15					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124805848	124805848	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124805848G>C	ENST00000298251.4	-	1	460	c.55C>G	c.(55-57)Cct>Gct	p.P19A		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	19					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TAGACAAAAGGAGCAAGGCGC	0.542000													11	12					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57109933	57109933	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:57109933G>A	ENST00000454682.1	-	3	5662	c.5381C>T	c.(5380-5382)cCc>cTc	p.P1794L	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P641L|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGTGGGGAGGGTGCTGCAGA	0.567000			T	BCL6	NHL								8	22					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:42166142G>A	ENST00000320955.6	-	25	5018	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647000													28	30					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102984267	102984267	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:102984267G>A	ENST00000504592.1	+	17	2557	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	BANK1_ENST00000508653.1_Silent_p.G595G|BANK1_ENST00000428908.1_Silent_p.G595G|BANK1_ENST00000444316.2_Silent_p.G698G|BANK1_ENST00000322953.4_Silent_p.G728G			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	728					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GCATTATTGGGAAAAGGCCAG	0.338000													13	16					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428581	128428581	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:128428581G>A	ENST00000465342.2	+	2	1627	c.470G>A	c.(469-471)aGg>aAg	p.R157K	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.R157K			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	157	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AAGCAGAAGAGGATCACCCTG	0.527000													5	18					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693229	69693229	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:69693229C>T	ENST00000265403.7	+	5	1297	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	UGT2B10_ENST00000458688.2_Silent_p.L340L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	424					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGTACAGACCTGCTGAATGC	0.393000													55	123					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863828	176863828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176863828C>T	ENST00000367654.2	-	17	2847	c.2834G>A	c.(2833-2835)gGa>gAa	p.G945E	ASTN1_ENST00000361833.2_Missense_Mutation_p.G937E|ASTN1_ENST00000367657.3_Missense_Mutation_p.G937E|ASTN1_ENST00000424564.2_Missense_Mutation_p.G937E			O14525	ASTN1_HUMAN	astrotactin 1	945					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGGCATCGTCCCTTGCTGTG	0.607000													40	67					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695588	219695588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:219695588C>T	ENST00000439262.2	-	3	130	c.35G>A	c.(34-36)tGg>tAg	p.W12*	PRKAG3_ENST00000392098.3_Nonsense_Mutation_p.W37*|PRKAG3_ENST00000529249.1_Nonsense_Mutation_p.W37*|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	37					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTGATGGCCATGAGCTGCT	0.502000													43	29					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372678	175372678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:175372678C>T	ENST00000367674.1	-	4	1282	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	TNR_ENST00000263525.2_Missense_Mutation_p.E192K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	192	Cys-rich.|EGF-like 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AACCAGCCTTCGTTGCAGATG	0.562000													65	112					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703977	33703977	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:33703977C>T	ENST00000336934.5	-	5	953	c.837G>A	c.(835-837)ggG>ggA	p.G279G	STARD13_ENST00000255486.4_Silent_p.G271G|STARD13_ENST00000399365.3_Silent_p.G161G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	279					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACCTGTCCGCCCAGACCCCT	0.552000													11	41					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586098	7586098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7586098C>T	ENST00000313599.3	-	3	374	c.317G>A	c.(316-318)aGa>aAa	p.R106K	CD163L1_ENST00000396630.1_Missense_Mutation_p.R106K|CD163L1_ENST00000416109.2_Missense_Mutation_p.R106K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	106	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTTTCCATGTCTAGTCACGGC	0.448000													25	48					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158265	139158265	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139158265C>T	ENST00000395297.1	-	15	3647	c.3477G>A	c.(3475-3477)aaG>aaA	p.K1159K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1159										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTATGAAAGTCTTTACCAGCC	0.443000										HNSCC(54;0.14)			10	36					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079713	104079713	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104079713C>T	ENST00000374874.3	+	7	1319	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	LPPR1_ENST00000395056.2_Missense_Mutation_p.P294S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		294						integral to membrane	catalytic activity										GCCTGAGGATCCCCGTGGAGT	0.483000													27	98					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677198	64677198	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64677198G>A	ENST00000421419.2	-	14	2176	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	ATG2A_ENST00000377264.3_Missense_Mutation_p.P688S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	688							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGACTGGGGGACCAGGCCCA	0.667000													12	52					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682170	127682170	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:127682170C>T	ENST00000405109.1	+	5	2098	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.S119F|KBTBD12_ENST00000407609.3_Missense_Mutation_p.S151F|KBTBD12_ENST00000405256.1_Missense_Mutation_p.S544F			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	544										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CGCACCAATTCCACCAATGCA	0.537000													4	16					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162470	41162470	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:41162470G>A	ENST00000483722.1	-	3	663	c.478C>T	c.(478-480)Cct>Tct	p.P160S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	160					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGTAAAAGGGGCATCAGGG	0.542000													6	37					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613984	48613984	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:48613984G>A	ENST00000328333.8	-	68	5814	c.5707C>T	c.(5707-5709)Cct>Tct	p.P1903S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1871S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1903	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACACCAGGAAAACCCTGA	0.597000													3	3					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028429	142028429	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142028429C>T	ENST00000390353.2	+	0	220																											GTACTGGTATCGACAAGACCC	0.493000													56	99					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392768	178392768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:178392768C>T	ENST00000320129.3	+	5	1666	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	ZNF454_ENST00000519564.1_Missense_Mutation_p.L455F	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CCATTCAGCCCTTACCCAACA	0.408000													12	55					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351399	89351399	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:89351399G>A	ENST00000301030.4	-	9	2011	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	ANKRD11_ENST00000378330.2_Silent_p.S517S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	517	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGGCAGAGAGGGAGCTGAACA	0.632000													13	31					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257747	70257747	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:70257747C>T	ENST00000310961.5	+	5	644	c.226C>T	c.(226-228)Cta>Tta	p.L76L	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.L109L|LRRC7_ENST00000035383.5_Silent_p.L71L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	71						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGTCAAGCTCTACGAAAACT	0.299000													17	59					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952682	56952682	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:56952682C>T	ENST00000504904.3	-	7	2401	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.G561E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G689E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAATGCCTTCCCACATTCATT	0.413000													12	48					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64679749	64679749	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:64679749C>T	ENST00000543942.2	-	7	1831	c.1205G>A	c.(1204-1206)aGg>aAg	p.R402K	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.R242K	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	405										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTCATCAACCCTTTGGCTTTG	0.358000													5	12					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43538391	43538391	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43538391G>A	ENST00000265351.7	-	5	679	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	157					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGTCGCAAAAGGATAAACATC	0.368000													9	48					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063167	72063167	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:72063167C>T	ENST00000305425.4	-	7	2112	c.1690G>A	c.(1690-1692)Gga>Aga	p.G564R	DACH1_ENST00000359684.2_Missense_Mutation_p.G616R|DACH1_ENST00000313174.7_Missense_Mutation_p.G416R|DACH1_ENST00000354591.4_Missense_Mutation_p.G362R	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	614					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAAGACAGTCCATCAGGAAAC	0.438000													45	87					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686197	54686197	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:54686197G>A	ENST00000540264.2	-	2	1592	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	NFE2_ENST00000435572.2_Silent_p.F361F|NFE2_ENST00000312156.4_Silent_p.F361F|NFE2_ENST00000553070.1_Silent_p.F361F|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	361					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGGCACAAGGAAGATGGTCC	0.557000													46	19					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374607	39374607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39374607C>T	ENST00000326306.4	+	2	923	c.785C>T	c.(784-786)tCc>tTc	p.S262F	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.S179F	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	262					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.S262F(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTCCTCACTTCCTTGCACAGT	0.453000													13	35					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128270	6128270	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6128270G>A	ENST00000261405.5	-	28	4568	c.4314C>T	c.(4312-4314)ttC>ttT	p.F1438F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1438	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCTCAGCACGAAGGCCTTGT	0.592000													24	68					0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536960	141536960	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141536960C>T	ENST00000350549.3	-	4	890	c.519G>A	c.(517-519)agG>agA	p.R173R	PRSS37_ENST00000438520.1_Silent_p.R173R	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	173	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ATAAGGAATTCCTGTGGCTTT	0.453000													12	71					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047294	67047294	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67047294G>A	ENST00000315962.4	+	3	784	c.411G>A	c.(409-411)ctG>ctA	p.L137L	TRIM55_ENST00000353317.5_Silent_p.L137L|TRIM55_ENST00000276573.7_Silent_p.L137L|TRIM55_ENST00000350034.4_Silent_p.L137L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	137						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCTACTGTCTGAACTGCGAAG	0.522000													14	55					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347944	156347944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156347944G>A	ENST00000400992.2	+	4	699	c.331G>A	c.(331-333)Gga>Aga	p.G111R	RHBG_ENST00000255013.3_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.G111R|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	177					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGAGTCTGGGGAGGGATGGA	0.662000													3	20					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15263059	15263059	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:15263059C>T	ENST00000378116.4	-	6	761	c.754_splice	c.e6-1	p.G252_splice	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	252						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGCCACGTTCCTGTGGAATT	0.498000													10	34					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473243	105473243	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:105473243C>T	ENST00000361360.2	+	1	1275	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	425					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGAGCCACTTCCTCAAGTGCC	0.657000													11	22					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865664	19865664	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:19865664A>C	ENST00000400519.1	-	16	1390	c.1391T>G	c.(1390-1392)tTc>tGc	p.F464C	TXNRD2_ENST00000542719.1_Missense_Mutation_p.F435C|TXNRD2_ENST00000535882.1_Missense_Mutation_p.F464C|TXNRD2_ENST00000400521.1_Missense_Mutation_p.F465C|TXNRD2_ENST00000400525.1_Missense_Mutation_p.F442C|TXNRD2_ENST00000400518.1_Missense_Mutation_p.F435C			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	465					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGGCCAAGGAAATGCAGGCC	0.612000													11	22					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892567	22892567	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:22892567G>A	ENST00000543184.1	-	4	1396	c.534C>T	c.(532-534)ctC>ctT	p.L178L	PRAME_ENST00000405655.3_Silent_p.L178L|PRAME_ENST00000398743.2_Silent_p.L178L|PRAME_ENST00000424204.2_Silent_p.L162L|PRAME_ENST00000402697.1_Silent_p.L178L|PRAME_ENST00000539862.1_Silent_p.L162L|PRAME_ENST00000398741.1_Silent_p.L178L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	178					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGGTCTACGAGCACCTCTA	0.478000													51	42					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40364148	40364148	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40364148G>A	ENST00000344138.4	+	6	825	c.562G>A	c.(562-564)Gat>Aat	p.D188N	GRAP2_ENST00000544756.1_Missense_Mutation_p.D116N|GRAP2_ENST00000543252.1_Missense_Mutation_p.D148N|GRAP2_ENST00000407075.3_Missense_Mutation_p.D188N|GRAP2_ENST00000399090.2_Missense_Mutation_p.D75N|GRAP2_ENST00000540310.1_Missense_Mutation_p.D122N	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	188					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGCTGTCGGATCACCCCCC	0.672000													8	26					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020958	5020958	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:5020958G>A	ENST00000382545.3	+	2	1521	c.414G>A	c.(412-414)aaG>aaA	p.K138K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	138					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTCATCAAGGAGGAGGAGC	0.632000													13	63					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885494	43885494	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:43885494C>T	ENST00000562955.1	+	8	969	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	323				S -> A (in Ref. 3; BU101724).		peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CATTTGGGTCCTACCTGTCCA	0.517000													20	66					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361812	9361812	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9361812C>T	ENST00000456448.1	+	1	207	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CAGAATTCCTCCTCCTGGGAC	0.502000													6	18					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649722	121649722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121649722C>T	ENST00000489711.1	+	18	1977	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.S499F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	530					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTCAACATCTCCCTGAGTACA	0.413000													9	32					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020537	2020537	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:2020537G>A	ENST00000262113.4	+	9	1047	c.906G>A	c.(904-906)ctG>ctA	p.L302L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	302	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCACCATGCTGGTGACGCCGG	0.617000													11	35					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992948	28992948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28992948C>T	ENST00000359747.4	+	15	2599	c.2570C>T	c.(2569-2571)cCa>cTa	p.P857L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P838L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	838					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTTTAGATCCAAAATTTAGG	0.438000													24	52					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227868	30227868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:30227868G>A	ENST00000376075.3	+	3	290	c.215G>A	c.(214-216)tGg>tAg	p.W72*	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	72					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGGGAAGCTGGACCCAGCTG	0.592000													13	20					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965751	88965751	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:88965751C>T	ENST00000333190.4	+	4	4064	c.3455C>T	c.(3454-3456)cCt>cTt	p.P1152L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1152						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACATTTTCTCCTGACGAAATA	0.418000										HNSCC(36;0.09)			31	46					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599194	62599194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:62599194G>A	ENST00000512091.1	+	7	1864	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	LPHN3_ENST00000504896.1_Missense_Mutation_p.D373N|LPHN3_ENST00000506720.1_Missense_Mutation_p.D441N|LPHN3_ENST00000507625.1_Missense_Mutation_p.D441N|LPHN3_ENST00000511324.1_Missense_Mutation_p.D441N|LPHN3_ENST00000508946.1_Missense_Mutation_p.D373N|LPHN3_ENST00000514157.1_Missense_Mutation_p.D373N|LPHN3_ENST00000507164.1_Missense_Mutation_p.D441N|LPHN3_ENST00000514996.1_Missense_Mutation_p.D373N|LPHN3_ENST00000509896.1_Missense_Mutation_p.D441N|LPHN3_ENST00000506746.1_Missense_Mutation_p.D441N|LPHN3_ENST00000506700.1_Missense_Mutation_p.D373N|LPHN3_ENST00000514591.1_Missense_Mutation_p.D373N|LPHN3_ENST00000545650.1_Missense_Mutation_p.D373N|LPHN3_ENST00000508693.1_Missense_Mutation_p.D441N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	373	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAACCCCAGGGACAACCTACT	0.398000													4	16					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2428508	2428508	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:2428508C>T	ENST00000452833.1	-	20	2973	c.2965G>A	c.(2965-2967)Ggc>Agc	p.G989S	TRPM5_ENST00000533060.1_Missense_Mutation_p.G987S|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.G987S|TRPM5_ENST00000528453.1_Missense_Mutation_p.G987S			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	987						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTGCGTTGCCCTGCACCACC	0.642000													11	15					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91674419	91674419	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:91674419C>T	ENST00000359028.2	+	22	5521	c.5296C>T	c.(5296-5298)Ctt>Ttt	p.L1766F	AKAP9_ENST00000358100.2_Missense_Mutation_p.L1766F|AKAP9_ENST00000356239.3_Missense_Mutation_p.L1754F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1766					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423000			T	BRAF	papillary thyroid								25	104					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132398367	132398367	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:132398367C>T	ENST00000321867.4	+	15	1584	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	411	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAGCAGCTCCCCCAGTCCCT	0.687000													7	25					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	192992935	192992935	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:192992935C>T	ENST00000342358.4	-	30	3670	c.3553G>A	c.(3553-3555)Gga>Aga	p.G1185R	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1185					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATGTAGAATCCATTTTTGCCA	0.438000													26	99					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738808	33738808	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:33738808G>A	ENST00000394562.1	-	6	1809	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	SLFN12_ENST00000452764.3_Missense_Mutation_p.S429F|SLFN12_ENST00000304905.5_Missense_Mutation_p.S429F|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	429							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGATCCACAGACCAGCTCCT	0.453000													39	23					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6461429	6461429	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:6461429A>T	ENST00000265983.3	-	4	402	c.302T>A	c.(301-303)tTc>tAc	p.F101Y	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	101	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ACCTTGACGGAATGCAGCATC	0.527000													23	36					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724476	140724476	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140724476C>T	ENST00000253812.6	+	1	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGATTTTCCATCTTAACT	0.413000													10	23					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553569	50553569	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50553569G>A	ENST00000262794.5	+	8	1236	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G385R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G385R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G365R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	385					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGAGAAAATGGAGAAAAAGA	0.423000													28	168					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574249	140574249	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140574249C>T	ENST00000239446.4	+	1	2308	c.2124C>T	c.(2122-2124)ctC>ctT	p.L708L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCGGTGCTCCTGTTCGTGG	0.697000													52	94					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042488	75042488	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:75042488C>T	ENST00000343932.4	+	2	472	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	137					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGCTGCCCGCCGGCGCCTGGC	0.612000													31	250					0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68595678	68595678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:68595678C>T	ENST00000229134.4	-	5	527	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	155					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATCCAGTTCACTGATGGCT	0.269000													12	29					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21462981	21462981	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:21462981T>A	ENST00000339374.6	+	9	1030	c.797T>A	c.(796-798)tTt>tAt	p.F266Y	METTL17_ENST00000382985.4_Missense_Mutation_p.F266Y|METTL17_ENST00000556670.2_Missense_Mutation_p.F266Y	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	266					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GTGTCAGCTTTTTCCTTAAGT	0.453000													4	11					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114504973	114504973	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114504973C>T	ENST00000369558.1	+	9	2248	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	HIPK1_ENST00000369559.4_Silent_p.F672F|HIPK1_ENST00000369555.2_Silent_p.F672F|HIPK1_ENST00000340480.4_Silent_p.F298F|HIPK1_ENST00000426820.2_Silent_p.F672F|HIPK1_ENST00000369561.4_Silent_p.F638F|HIPK1_ENST00000406344.1_Silent_p.F278F|HIPK1_ENST00000369554.2_Silent_p.F672F|HIPK1_ENST00000369553.1_Silent_p.F278F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	672					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)		ATTCTGGATTCCCTGTGAGGA	0.438000													25	81					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157161	4157161	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:4157161C>T	ENST00000078445.2	+	3	473	c.326C>T	c.(325-327)tCc>tTc	p.S109F	CREB3L3_ENST00000252587.3_Missense_Mutation_p.S99F|CREB3L3_ENST00000602147.1_Missense_Mutation_p.S109F|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S109F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S108F	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	109					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCACCTCCCCCGCCGGC	0.667000													22	49					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057925	152057925	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152057925C>T	ENST00000368806.1	-	3	2297	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	745							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTTCCTCCTCTGATGTTACA	0.463000													25	81					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028622	27028622	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:27028622C>T	ENST00000314616.6	+	37	5443	c.5160C>T	c.(5158-5160)ctC>ctT	p.L1720L	SUPT6H_ENST00000347486.4_Silent_p.L1720L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1720					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCCCACTCCTGGACGAGA	0.657000													10	38					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30529015	30529015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30529015G>A	ENST00000356798.6	+	27	3202	c.3022G>A	c.(3022-3024)Gat>Aat	p.D1008N	ITGAL_ENST00000358164.5_Missense_Mutation_p.D924N|ITGAL_ENST00000433423.2_Missense_Mutation_p.D242N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1008					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAGGCTCCCGGATGCAGCTGA	0.612000													19	59					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031228	33031228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:33031228G>A	ENST00000340811.4	-	3	694	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	PKP2_ENST00000070846.6_Missense_Mutation_p.R196C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	196					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATCTCGGAACGAGCATATCTC	0.607000													31	57					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139797366	139797366	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:139797366G>A	ENST00000397560.2	-	15	2092	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	JHDM1D_ENST00000006967.5_Silent_p.S665S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		665					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCGGGTCCGGAGTCTTCTG	0.453000													15	17					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949486	61949486	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61949486C>T	ENST00000392886.2	-	5	805	c.654G>A	c.(652-654)taG>taA	p.*218*	CSH2_ENST00000560142.1_Silent_p.*161*|CSH2_ENST00000345366.7_Silent_p.*123*|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ACGCGGGCACCTAGAAGCCAC	0.582000													36	36					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039296	248039296	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248039296C>T	ENST00000366481.3	+	6	1014	c.966C>T	c.(964-966)gtC>gtT	p.V322V	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	322	B30.2/SPRY.		V -> I (in dbSNP:rs1339847).			intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGGATGTCCCCAACAACC	0.597000													16	10					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66441132	66441132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:66441132C>T	ENST00000404260.3	+	23	3336	c.3028C>T	c.(3028-3030)Cct>Tct	p.P1010S	MAST4_ENST00000405643.1_Missense_Mutation_p.P828S|MAST4_ENST00000403625.2_Missense_Mutation_p.P1007S|MAST4_ENST00000403666.1_Missense_Mutation_p.P818S|MAST4_ENST00000261569.7_Missense_Mutation_p.P813S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1010						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAGCCCTTCCTCCTGAAGA	0.612000													6	29					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053173	124053173	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:124053173C>T	ENST00000360013.3	+	9	1599	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	KALRN_ENST00000460856.1_Missense_Mutation_p.S491F|KALRN_ENST00000240874.3_Missense_Mutation_p.S491F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	491					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTGGGAACTCCGAATCCCTC	0.567000													32	87					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46077903	46077903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:46077903C>T	ENST00000397907.1	+	1	55	c.7C>T	c.(7-9)Cac>Tac	p.H3Y	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	3						intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CACCATGTGCCACACCAGCTG	0.612000													30	128					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712210	41712210	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:41712210T>G	ENST00000373025.3	-	3	315	c.253A>C	c.(253-255)Aac>Cac	p.N85H	PGC_ENST00000425343.2_Missense_Mutation_p.N85H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	85					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACCAGGAAGTTCTGGGGTGGA	0.617000													13	88					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44035263	44035263	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:44035263G>A	ENST00000359947.4	+	6	722	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	PTPRF_ENST00000438120.1_Missense_Mutation_p.E128K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E128K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E128K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	128					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCTGCAGAGGAACAGCTGCC	0.617000													14	72					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127737999	127737999	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:127737999G>A	ENST00000368679.4	-	16	2058	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	ADAM12_ENST00000368676.4_Silent_p.I583I	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	583	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTGACACTGGATTTTTCCAC	0.502000													34	42					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943944	26943944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:26943944G>A	ENST00000528896.2	-	34	6058	c.5984C>T	c.(5983-5985)cCc>cTc	p.P1995L	KIAA0100_ENST00000579924.2_Intron|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.P1852L|KIAA0100_ENST00000389003.3_Missense_Mutation_p.P1852L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1995						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCAACAGGGGGCCGAACTTT	0.537000													9	29					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80992912	80992912	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:80992912G>A	ENST00000320865.3	-	4	354	c.342_splice	c.e4+1	p.S114_splice	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	114							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTTACTTACCGAATCCAAAAA	0.323000													19	108					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5749173	5749173	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5749173C>T	ENST00000381624.3	+	11	1027	c.966C>T	c.(964-966)atC>atT	p.I322I	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	322						integral to membrane											ATCTGGGCATCGTGCCAAGTT	0.438000													15	27					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890790	23890790	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:23890790C>T	ENST00000532292.1	-	1	385	c.291G>A	c.(289-291)ccG>ccA	p.P97P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGCTGCTACCGGGGGTCCGG	0.632000													3	11					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642220	196642220	+	Silent	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:196642220A>G	ENST00000367429.4	+	2	411	c.171A>G	c.(169-171)agA>agG	p.R57R	CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Silent_p.R57R|CFH_ENST00000439155.2_Silent_p.R57R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	57	Sushi 1.				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						CTGGATATAGATCTCTTGGAA	0.393000													30	40					0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153347001	153347001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:153347001C>T	ENST00000368737.3	-	2	185	c.68G>A	c.(67-69)gGg>gAg	p.G23E		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	23	EF-hand 1.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GTCAAAATGCCCCTTCCGAAC	0.463000													24	93					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053488	5053488	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:5053488G>A	ENST00000251170.7	+	11	1396	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	406	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCGGATGATTGAGGTGGTTGA	0.627000													48	58					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129154390	129154390	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:129154390C>T	ENST00000361171.3	+	5	536	c.455C>T	c.(454-456)cCa>cTa	p.P152L	MVB12B_ENST00000545391.1_Missense_Mutation_p.P152L|MVB12B_ENST00000436593.3_Missense_Mutation_p.P137L|MVB12B_ENST00000535766.1_Missense_Mutation_p.P145L	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		AAATTTATTCCACGGGATTCA	0.453000													47	120					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31335980	31335980	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:31335980C>T	ENST00000544665.3	+	18	2240	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	ITGAM_ENST00000287497.8_Silent_p.I722I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	722					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAATTGCATCGAGGACCCAG	0.602000													11	5					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313031	48313031	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:48313031C>T	ENST00000435803.1	+	17	3792	c.3768C>T	c.(3766-3768)tcC>tcT	p.S1256S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1256					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAGAAATCCCTTTTCACCA	0.383000													6	13					0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92085780	92085780	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92085780C>T	ENST00000287957.3	+	5	991	c.714C>T	c.(712-714)ccC>ccT	p.P238P		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	238							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACCATTTCCCACAGTTCCCA	0.448000													52	72					0	0	1	0	0
CCL13	6357	broad.mit.edu	37	17	32685087	32685087	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:32685087G>A	ENST00000225844.2	+	3	309	c.234G>A	c.(232-234)aaG>aaA	p.K78K		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	78					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				CTGACCCAAAGGAGAAGTGGG	0.502000													8	25					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082626	73082626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:73082626C>T	ENST00000373189.5	+	2	167	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	39					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCTGGACCGCCCGCCCCCTGG	0.567000													25	82					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712768	43712768	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:43712768G>A	ENST00000263801.3	-	21	4653	c.4401C>T	c.(4399-4401)ttC>ttT	p.F1467F	TP53BP1_ENST00000450115.2_Silent_p.F1472F|TP53BP1_ENST00000382044.4_Silent_p.F1472F|TP53BP1_ENST00000382039.3_Silent_p.F1422F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1467					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGCAGCCTGGAAAGGAATTT	0.547000								Other conserved DNA damage response genes					33	72					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128645159	128645159	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:128645159G>A	ENST00000393245.1	-	5	980	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	TNPO3_ENST00000265388.5_Missense_Mutation_p.R203C|TNPO3_ENST00000482320.1_Missense_Mutation_p.R137C|TNPO3_ENST00000471166.1_Missense_Mutation_p.R203C|TNPO3_ENST00000471234.1_Missense_Mutation_p.R203C	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	203					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCCAAACAGCGAAAAACCTTC	0.323000													42	81					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025132	16025132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:16025132G>A	ENST00000326742.7	-	10	1316	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	CYP4F11_ENST00000248041.7_Silent_p.P460P|CYP4F11_ENST00000402119.3_Silent_p.P460P			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	0					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGCCGAGAAGGGAATAAAAG	0.562000													45	118					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537728	27537728	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:27537728C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTTTCCCGGTCCAACTGTATG	0.368000													19	50					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072843	125072843	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:125072843C>T	ENST00000522917.1	+	24	3246	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1014W|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1014						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTGTGGATCGGCCTCAGGC	0.547000													20	22					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80640035	80640035	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:80640035C>T	ENST00000307624.3	-	9	953		c.e9-1			NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12						acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGAAATCATCCTTTAATCAaa	0.343000													10	35					0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112234012	112234012	+	Silent	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:112234012T>G	ENST00000369709.3	+	2	209	c.30T>G	c.(28-30)ggT>ggG	p.G10G	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Silent_p.G10G|RAP1A_ENST00000436150.2_Silent_p.G10G|RAP1A_ENST00000356415.1_Silent_p.G10G	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	10					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TGGTCCTTGGTTCAGGAGGCG	0.368000													6	43					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31897539	31897539	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:31897539C>T	ENST00000253354.1	+	16	1582	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	474						extracellular space	lipid binding										ACTCCAGCCTCCTTGTGGAAA	0.512000													24	40					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936623	74936623	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:74936623C>T	ENST00000569840.2	+	14	2298	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	MGAT5B_ENST00000301618.4_Missense_Mutation_p.S573F|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S584F	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	575						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCCCACCTCCAGAGAGGTG	0.627000													21	90					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517435	158517435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158517435C>T	ENST00000302617.3	-	1	460	c.461G>A	c.(460-462)tGg>tAg	p.W154*		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCACAGAACCAGCATCCTCC	0.463000													4	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294925	31294925	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:31294925G>A	ENST00000542188.1	-	27	4342	c.4029C>T	c.(4027-4029)ttC>ttT	p.F1343F	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.F1326F|TRPM1_ENST00000397795.2_Silent_p.F1304F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1304					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCTTTATACGGAAGGAACAGG	0.453000													40	69					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767331	41767331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:41767331G>A	ENST00000379483.3	-	1	1371	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	355							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CAGAGAAAGGGATCTCTAGGA	0.498000													6	30					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845042	80845042	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:80845042C>T	ENST00000533983.1	+	11	1322	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ARNT2_ENST00000303329.4_Missense_Mutation_p.S339F|ARNT2_ENST00000527771.1_Missense_Mutation_p.S328F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	339	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S339F(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GAGTTCTTATCCCGGCATAAC	0.493000													23	80					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972598	61972598	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61972598G>A	ENST00000329882.8	-	4	761	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGAAGGAAGAGAAGGAGAGGC	0.552000									Russell-Silver syndrome				12	122					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40668655	40668655	+	Splice_Site	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:40668655G>T	ENST00000298910.7	+	16	1859		c.e16-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATTTTCCTAGAAATTCAGTG	0.318000													7	17					2.7689e-08	2.79776e-08	1	1	0
DGCR8	54487	broad.mit.edu	37	22	20074187	20074187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:20074187C>T	ENST00000351989.3	+	2	1130	c.701C>T	c.(700-702)gCc>gTc	p.A234V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A234V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A234V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	234	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GATGAAGAGGCCTTGAATTTC	0.468000													18	77					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389661	20389661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:20389661G>A	ENST00000315915.4	+	1	921	c.896G>A	c.(895-897)aGg>aAg	p.R299K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGCCGTAAGGAAAATTGTG	0.383000													24	44					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049388	161049388	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161049388C>T	ENST00000368012.3	-	2	733	c.431G>A	c.(430-432)cGa>cAa	p.R144Q		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	144	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACCCAGCACTCGGAGCCGCAG	0.662000													5	12					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199313	42199313	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:42199313C>T	ENST00000373100.1	+	8	877	c.417C>T	c.(415-417)taC>taT	p.Y139Y	SGK2_ENST00000426287.1_Silent_p.Y165Y|SGK2_ENST00000373077.1_Silent_p.Y138Y|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373092.3_Silent_p.Y139Y|SGK2_ENST00000423407.3_Silent_p.Y139Y|SGK2_ENST00000341458.4_Silent_p.Y199Y			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	199	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAGGTTCTACGCTGCTGAGG	0.622000													17	82					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102250018	102250018	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:102250018G>A	ENST00000370345.3	-	21	2809	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	904	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGTCCCAGGGAATCCCACCG	0.537000													9	24					0	0	1	0	0
EFCAB4A	283229	broad.mit.edu	37	11	828713	828713	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:828713G>A	ENST00000450448.1	+	2	611	c.106G>A	c.(106-108)Gag>Aag	p.E36K	EFCAB4A_ENST00000528542.2_Missense_Mutation_p.E36K|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000525077.1_Missense_Mutation_p.E36K	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN	EF-hand calcium binding domain 4A	36	EF-hand 1.				store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCTGAGGAGCTGTTTCT	0.642000													20	52					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43368078	43368078	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:43368078G>A	ENST00000344686.2	-	0	142							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTGAGCCAGGGGCACCTGGG	0.582000													11	86					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854010	88854010	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:88854010C>T	ENST00000537554.1	-	2	4546	c.984G>A	c.(982-984)caG>caA	p.Q328Q	CNR1_ENST00000468898.1_Silent_p.Q295Q|CNR1_ENST00000428600.2_Silent_p.Q328Q|CNR1_ENST00000369501.2_Silent_p.Q328Q|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Silent_p.Q267Q|CNR1_ENST00000549890.1_Silent_p.Q328Q|CNR1_ENST00000369499.2_Silent_p.Q328Q|CNR1_ENST00000535130.1_Silent_p.Q328Q	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	328					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCCGGGTCACCTGTACCTTCC	0.567000													21	21					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013537	133013537	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:133013537A>T	ENST00000367928.4	-	5	1026	c.1013T>A	c.(1012-1014)tTt>tAt	p.F338Y		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	338					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTCATCGAAAAAGACAGTGCC	0.423000													18	15					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109782128	109782128	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:109782128C>T	ENST00000399132.1	-	23	1728		c.e23-1		COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1							collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CACGATCCCCCTTTTCCCGTT	0.433000													5	17					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19486765	19486765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19486765G>A	ENST00000375267.2	-	39	5420	c.5417C>T	c.(5416-5418)tCc>tTc	p.S1806F	UBR4_ENST00000375254.3_Missense_Mutation_p.S1806F|UBR4_ENST00000375217.2_Missense_Mutation_p.S1806F|UBR4_ENST00000375226.2_Missense_Mutation_p.S1806F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1806					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAGCGAAGGAGAAATTGGC	0.403000													11	19					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94667336	94667336	+	Silent	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:94667336T>C	ENST00000260526.6	-	12	1403	c.1221A>G	c.(1219-1221)aaA>aaG	p.K407K		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	407					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATTTCTCTTTTGGTATTTT	0.323000													6	27					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513430	99513430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513430G>A	ENST00000261037.3	+	5	1065	c.685G>A	c.(685-687)Gga>Aga	p.G229R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G229R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	229	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGACCCAAAGGACTACCAGG	0.622000													22	84					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785626	111785626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:111785626G>A	ENST00000261726.6	+	22	4112	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGACTCAGGGGAGCTGGACAA	0.627000													21	59					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275232	29275232	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29275232G>A	ENST00000377160.2	+	1	830	c.766G>A	c.(766-768)Gag>Aag	p.E256K		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGCAGGCTTTGAGTTTCTCAG	0.478000													52	106					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139149502	139149502	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139149502C>T	ENST00000395297.1	-	19	4073	c.3901_splice	c.e19-1	p.G1301_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1301										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATACTGCAGCCCTGTAAAAA	0.423000										HNSCC(54;0.14)			8	31					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564652	176564652	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176564652G>A	ENST00000367662.3	+	3	3076	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D638N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	638	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGCTGAACGACTTTGACGA	0.602000													25	31					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133498099	133498099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133498099C>T	ENST00000319725.9	+	10	851	c.776C>T	c.(775-777)tCt>tTt	p.S259F		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	259	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCCTAGGTATCTGTGCCTAGG	0.408000													33	36					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639603	142639603	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142639603C>T	ENST00000355265.2	-	18	2429	c.1955G>A	c.(1954-1956)aGg>aAg	p.R652K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	652					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCGTAACAGCCTCTTGCTGTA	0.592000													11	6					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257710	18257710	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:18257710G>A	ENST00000286479.3	+	2	304	c.197G>A	c.(196-198)gGg>gAg	p.G66E	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	66					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AACCGGGGTGGGTGGTGTCTC	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				22	73					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35456345	35456345	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:35456345C>T	ENST00000378880.2	-	10	1786	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PAMR1_ENST00000278360.3_Silent_p.G464G|PAMR1_ENST00000378878.3_Silent_p.G336G|PAMR1_ENST00000532848.1_Silent_p.G407G	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	447	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCTCAATTTTCCCGCAGACTA	0.512000													15	34					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769176	13769176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13769176C>T	ENST00000265104.4	-	58	9894	c.9790G>A	c.(9790-9792)Gac>Aac	p.D3264N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3264	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3264H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGGCCCTGTCCTTCACCTTC	0.448000									Kartagener syndrome				110	177					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651333	38651333	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38651333G>A	ENST00000413689.1	-	7	1019	c.826C>T	c.(826-828)Cta>Tta	p.L276L	SCN5A_ENST00000449557.2_Silent_p.L276L|SCN5A_ENST00000443581.1_Silent_p.L276L|SCN5A_ENST00000425664.1_Silent_p.L276L|SCN5A_ENST00000423572.2_Silent_p.L276L|SCN5A_ENST00000455624.2_Silent_p.L276L|SCN5A_ENST00000333535.4_Silent_p.L276L|SCN5A_ENST00000450102.2_Silent_p.L276L|SCN5A_ENST00000414099.2_Silent_p.L276L|SCN5A_ENST00000451551.2_Silent_p.L276L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	276					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGTGCCTTAGGTTGCCCATG	0.587000													19	55					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475152	5475152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5475152G>A	ENST00000341449.2	+	1	515	c.434G>A	c.(433-435)gGt>gAt	p.G145D	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCAATGGGTTTAGGTGCA	0.488000													21	75					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:74806855G>A	ENST00000412021.2	-	9	1238	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P302L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	302						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353000													7	36					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94943183	94943183	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:94943183G>A	ENST00000357742.4	+	15	1924	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	MCTP2_ENST00000451018.3_Missense_Mutation_p.E642K|MCTP2_ENST00000331706.4_Missense_Mutation_p.E230K|MCTP2_ENST00000557742.1_Missense_Mutation_p.E230K	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	642					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TACTCCCCGGGAAAAGCGCTT	0.458000													20	99					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214639	13214639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:13214639C>T	ENST00000378694.1	+	4	541	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	MCM10_ENST00000378714.3_Missense_Mutation_p.R156W|MCM10_ENST00000484800.2_Missense_Mutation_p.R157W			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	157					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GAAGTCTCCCCGGCCACCTCT	0.463000													8	20					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110230	151110230	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151110230A>C	ENST00000341697.3	-	10	2404	c.713T>G	c.(712-714)tTc>tGc	p.F238C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	238	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCGGAAGAAGAAGTAGACATG	0.552000													44	44					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27758942	27758942	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:27758942G>A	ENST00000295743.4	-	6	1883	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	EOMES_ENST00000449599.1_Silent_p.A579A|EOMES_ENST00000537516.1_Silent_p.A284A			O95936	EOMES_HUMAN	eomesodermin	560					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AATACCCCAGGGCATGGGATG	0.502000													14	43					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41015530	41015530	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41015530T>A	ENST00000399564.4	-	29	3385	c.2935A>T	c.(2935-2937)Agt>Tgt	p.S979C	MROH2B_ENST00000506092.2_Missense_Mutation_p.S534C	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACGTCATCACTTTCCAGCCCT	0.403000													28	19					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225292	107225292	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:107225292G>A	ENST00000302917.1	-	2	158	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	22										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCATTTTCTCGATGATGAAGG	0.562000													21	7					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34046479	34046479	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:34046479G>A	ENST00000373381.4	-	48	7437	c.7261C>T	c.(7261-7263)Ctg>Ttg	p.L2421L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2423	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTTCAGCAGAGGACTCTGT	0.562000													9	29					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654278	654278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:654278C>T	ENST00000255622.6	+	12	1533	c.1490C>T	c.(1489-1491)aCc>aTc	p.T497I	PDE6B_ENST00000496514.1_Missense_Mutation_p.T497I|PDE6B_ENST00000429163.2_Missense_Mutation_p.T218I	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	497					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T497S(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCAGGGCCCACCACATTTGAC	0.567000													22	29					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755657	39755657	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:39755657G>A	ENST00000442448.1	-	11	1328	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	ERG_ENST00000398905.1_Missense_Mutation_p.R346C|ERG_ENST00000453032.2_Missense_Mutation_p.R278C|ERG_ENST00000417133.2_Missense_Mutation_p.R377C|ERG_ENST00000398911.1_Missense_Mutation_p.R353C|ERG_ENST00000398910.1_Missense_Mutation_p.R354C|ERG_ENST00000288319.7_Missense_Mutation_p.R370C|ERG_ENST00000398907.1_Missense_Mutation_p.R347C|ERG_ENST00000398897.1_Missense_Mutation_p.R254C|ERG_ENST00000398919.2_Missense_Mutation_p.R377C	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	377					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TAGTAGTAACGGAGGGCGCGG	0.602000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								28	84					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73720551	73720551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73720551C>T	ENST00000427855.1	+	12	1286	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	PAPLN_ENST00000555445.1_Missense_Mutation_p.A395V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A368V|PAPLN_ENST00000554301.1_Missense_Mutation_p.A395V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A395V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	395	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCTGACGGGGCCGGCATCCAG	0.687000													41	24					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39307287G>A	ENST00000541347.1	-	2	953	c.714C>T	c.(712-714)atC>atT	p.I238I	CX3CR1_ENST00000399220.2_Silent_p.I238I|CX3CR1_ENST00000358309.3_Silent_p.I270I|CX3CR1_ENST00000542107.1_Silent_p.I238I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000													35	28					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291407	141291407	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:141291407C>T	ENST00000247452.3	-	3	714	c.367G>A	c.(367-369)Gat>Aat	p.D123N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	123						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTGTATCCTCCCCTTTC	0.537000										HNSCC(46;0.14)			32	46					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454764	130454764	+	Silent	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:130454764A>G	ENST00000356763.3	-	3	1373	c.816T>C	c.(814-816)ttT>ttC	p.F272F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	272	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTCAGGGAAAAAATGTCCAT	0.328000													13	49					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642832	156642832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156642832G>A	ENST00000368223.3	-	4	1280	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	383	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCAAGGTAGGGGTACGGGC	0.602000													75	86					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074188	20074188	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:20074188C>T	ENST00000351989.3	+	2	1131	c.702C>T	c.(700-702)gcC>gcT	p.A234A	DGCR8_ENST00000407755.1_Silent_p.A234A|DGCR8_ENST00000383024.2_Silent_p.A234A	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	234	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ATGAAGAGGCCTTGAATTTCC	0.468000													19	78					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227403	28227403	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28227403C>A	ENST00000343684.3	+	1	306	c.254C>A	c.(253-255)tCc>tAc	p.S85Y		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	85										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GCCTTCGCGTCCTCCTGGTCG	0.582000													15	65					1.52009e-12	1.54336e-12	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86124902	86124902	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:86124902C>T	ENST00000394518.2	+	7	3698	c.3603C>T	c.(3601-3603)ctC>ctT	p.L1201L	AKAP13_ENST00000361243.2_Silent_p.L1201L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1201					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACATGGAGCTCTCAGCCCATG	0.587000													14	41					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332051	144332051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144332051C>T	ENST00000330701.4	+	2	407	c.38C>T	c.(37-39)aCc>aTc	p.T13I	ZFP41_ENST00000520584.1_Missense_Mutation_p.T13I|ZFP41_ENST00000522452.1_Missense_Mutation_p.T13I	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	13					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGACGCCGACCCCAAGGGAG	0.602000													5	9					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766229	13766229	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13766229G>A	ENST00000265104.4	-	59	10061	c.9957C>T	c.(9955-9957)atC>atT	p.I3319I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3319	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATCCGCATGATGAGGTGAG	0.532000									Kartagener syndrome				25	106					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695306	64695306	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64695306C>T	ENST00000164133.2	+	4	1051	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	143					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTCTGCCGCCCAGTGAGAACC	0.522000													11	35					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53010066	53010066	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53010066G>A	ENST00000305748.3	-	2	580	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	182	Linker 1.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCAAGGATGGGCTCCA	0.607000													23	101					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122277240	122277240	+	Silent	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:122277240A>G	ENST00000360356.2	-	3	317	c.90T>C	c.(88-90)ttT>ttC	p.F30F	PARP9_ENST00000462315.1_Intron|PARP9_ENST00000477522.2_Intron|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	30					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AGATCTGAGCAAAGACTTTCT	0.493000													13	40					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124619760	124619760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124619760G>A	ENST00000403470.1	-	4	485	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	VSIG2_ENST00000326621.5_Missense_Mutation_p.P144S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	144	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TTACTGGGGGGAACTGCaaaa	0.458000													7	3					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52549467	52549467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52549467G>A	ENST00000321725.6	+	37	3969	c.3893G>A	c.(3892-3894)cGa>cAa	p.R1298Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1298					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGTCTACCGATCTGGCTTC	0.612000													16	40					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929881	121929881	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:121929881C>T	ENST00000265922.3	-	8	2228	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		589					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGAGACGGATCTTCTCCCAGC	0.527000													34	44					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123340686	123340686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:123340686C>T	ENST00000253083.4	+	14	1413	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	430					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CGAGCGGAGCCAGGGCCTGCG	0.692000													6	12					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13183421	13183421	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:13183421G>A	ENST00000319217.7	-	19	2892	c.2645C>T	c.(2644-2646)cCt>cTt	p.P882L	MPDZ_ENST00000536827.1_Missense_Mutation_p.P882L|MPDZ_ENST00000447879.1_Missense_Mutation_p.P882L|MPDZ_ENST00000381022.2_Missense_Mutation_p.P882L|MPDZ_ENST00000546205.1_Missense_Mutation_p.P882L|MPDZ_ENST00000381015.4_Missense_Mutation_p.P882L|MPDZ_ENST00000541718.1_Missense_Mutation_p.P882L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	882					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGTACCTTAGGAGGAGATGA	0.403000													3	4					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749428	22749428	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:22749428G>A	ENST00000511446.1	+	0	799				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTATCCTGAAGTTGTCAA	0.423000													18	24					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277525	135277525	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:135277525G>A	ENST00000334270.2	-	2	723	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	228					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CATATTCCCGGTTACTGGACT	0.493000													15	23					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86375655	86375655	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:86375655G>A	ENST00000370571.2	-	26	3014	c.2648C>T	c.(2647-2649)cCg>cTg	p.P883L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P883L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	883	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCTCCCTGCGGACCTAGTGG	0.403000													55	126					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513808	99513808	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513808T>A	ENST00000261037.3	+	5	1443	c.1063T>A	c.(1063-1065)Ttc>Atc	p.F355I	COL8A1_ENST00000273342.4_Missense_Mutation_p.F355I	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	355	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GAAACCAGGCTTCCCAGGACC	0.627000													19	15					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129289910	129289910	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:129289910G>A	ENST00000393239.1	-	18	3751	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	PLXND1_ENST00000324093.4_Silent_p.P1191P			Q9Y4D7	PLXD1_HUMAN	plexin D1	1191					axon guidance	integral to membrane|intracellular|plasma membrane		p.P1191P(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGGCTCCCCGGGGTGGTGCT	0.667000													66	179					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100011406	100011406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:100011406C>T	ENST00000260702.3	-	13	2155	c.2005G>A	c.(2005-2007)Ggc>Agc	p.G669S		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	669	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TCCCAGCAGCCTACAGTCACT	0.562000													8	39					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8137961	8137961	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8137961G>A	ENST00000600128.1	-	62	8337	c.7923C>T	c.(7921-7923)ttC>ttT	p.F2641F	FBN3_ENST00000270509.2_Silent_p.F2641F|FBN3_ENST00000601739.1_Silent_p.F2641F			Q75N90	FBN3_HUMAN	fibrillin 3	2641	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGCCCGGAAGTAGCCTT	0.647000													21	67					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165308	139165308	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139165308C>T	ENST00000395297.1	-	13	1580	c.1410G>A	c.(1408-1410)atG>atA	p.M470I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	470										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCAGAATCCATTTGGGATG	0.373000										HNSCC(54;0.14)			24	33					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15967478	15967478	+	Silent	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:15967478A>T	ENST00000255759.6	-	4	347	c.318T>A	c.(316-318)ctT>ctA	p.L106L	FOPNL_ENST00000575744.1_Silent_p.L40L|FOPNL_ENST00000573429.1_Silent_p.L130L|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000575073.1_Intron	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	106					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						TCCCATATAAAAGAGGTCTAT	0.378000													24	14					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226058	23226058	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23226058T>A	ENST00000300061.2	+	12	1662	c.1519T>A	c.(1519-1521)Ttc>Atc	p.F507I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	507					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACTCTTGATATTCTACAAAGA	0.502000													6	27					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580612	234580612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234580612C>T	ENST00000354728.4	+	1	114	c.32C>T	c.(31-33)cCt>cTt	p.P11L	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AGCCCCCTTCCTCTATGTGTG	0.557000													20	13					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106497	148106497	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:148106497C>T	ENST00000361727.3	+	23	4246	c.3730C>T	c.(3730-3732)Cca>Tca	p.P1244S	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P303S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1244					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGGATTTTCCATATAATCC	0.408000										HNSCC(39;0.1)			4	24					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521553	125521553	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:125521553C>T	ENST00000241305.3	-	11	1766	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	538					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGGTGTGTTCCTGCGTCTTC	0.652000													25	83					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193153	104193153	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104193153G>A	ENST00000374855.4	-	2	141	c.17C>T	c.(16-18)cCa>cTa	p.P6L	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	6					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGTGAGGGCTGGAAATCGGTG	0.537000													5	23					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400934	77400934	+	Silent	SNP	G	G	A	rs149732972		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:77400934G>A	ENST00000451710.3	-	21	3012	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	TRPM6_ENST00000449912.2_Silent_p.F920F|TRPM6_ENST00000376864.4_Silent_p.F925F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.F920F|TRPM6_ENST00000360774.1_Silent_p.F925F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	925					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCGAAGGACGAAGCCAGCTG	0.478000													28	66					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102239042	102239042	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:102239042C>T	ENST00000227758.2	+	6	2528	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	BIRC2_ENST00000530675.1_Missense_Mutation_p.H328Y|BIRC2_ENST00000532672.1_Missense_Mutation_p.H356Y|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	377					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AATAGTTATTCATTTTGGACC	0.343000													14	35					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902919	22902919	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22902919C>T	ENST00000166244.3	+	3	441	c.369C>T	c.(367-369)aaC>aaT	p.N123N	EPHA8_ENST00000374644.4_Silent_p.N123N|EPHA8_ENST00000538803.1_Silent_p.N123N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	123			N -> K (in a breast infiltrating ductal carcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.N123K(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACCTTCAACCTCTACTACC	0.607000													13	48					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33136303	33136303	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33136303C>T	ENST00000341947.2	-	54	4180	c.3953G>A	c.(3952-3954)gGa>gAa	p.G1318E	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1211E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1271E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1237E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1292E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1258E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1297E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1232E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1318	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TACTCGCTTTCCAAGTGGCCC	0.637000													10	47					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73021965	73021965	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:73021965C>T	ENST00000313375.3	-	3	485	c.438G>A	c.(436-438)gtG>gtA	p.V146V	MLXIPL_ENST00000414749.2_Silent_p.V146V|MLXIPL_ENST00000395189.1_Silent_p.V146V|MLXIPL_ENST00000354613.1_Silent_p.V146V|MLXIPL_ENST00000434326.1_Silent_p.V146V|MLXIPL_ENST00000429400.2_Silent_p.V146V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	146					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGGGGGGTCACGAAGCCAC	0.682000											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2147900	2147900	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2147900G>A	ENST00000262304.4	-	31	10344	c.10136C>T	c.(10135-10137)tCc>tTc	p.S3379F	PKD1_ENST00000423118.1_Missense_Mutation_p.S3379F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3379					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTGAGGAAGGAGCTGTCCAG	0.682000													9	15					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567235	46567235	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:46567235G>A	ENST00000458649.2	-	5	888	c.470C>T	c.(469-471)gCc>gTc	p.A157V	AMBRA1_ENST00000528950.1_Missense_Mutation_p.A157V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A157V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A157V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A157V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A157V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A157V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	157					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCTCATTGGCAGTGGCAAT	0.567000													14	50					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101542534	101542534	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:101542534G>A	ENST00000353234.4	-	6	1352	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P	ANKS6_ENST00000540940.1_Silent_p.P240P|ANKS6_ENST00000375018.1_Silent_p.P435P|ANKS6_ENST00000375019.2_Silent_p.P134P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	435										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCTTCGAGTGGGGCAGGGGAG	0.572000													7	22					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968039	2968039	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2968039G>A	ENST00000342628.2	-	10	2284	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.S671F|FOXM1_ENST00000359843.3_Missense_Mutation_p.S686F	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	686					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAAGGGGACGGAGATGAGGTC	0.577000													13	30					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003054	122003054	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:122003054C>T	ENST00000498619.1	+	7	2721	c.2283C>T	c.(2281-2283)taC>taT	p.Y761Y	CASR_ENST00000490131.1_Silent_p.Y751Y|CASR_ENST00000296154.5_Silent_p.Y751Y	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	751					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGTCAAGCTACCGCAACCAGG	0.597000													7	33					0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147281206	147281206	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:147281206G>A	ENST00000515291.1	-	2	237	c.201C>T	c.(199-201)tcC>tcT	p.S67S	C5orf46_ENST00000318315.4_Silent_p.S67S|C5orf46_ENST00000510432.1_5'UTR			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	67						extracellular region				NS(1)|lung(1)|prostate(1)	3						TCCTGGACATGGAGCGGAGGA	0.473000													7	32					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110240893	110240893	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110240893G>A	ENST00000418703.2	-	3	709	c.615C>T	c.(613-615)ggC>ggT	p.G205G	TRPV4_ENST00000544971.1_Silent_p.G205G|TRPV4_ENST00000536838.1_Silent_p.G171G|TRPV4_ENST00000346520.2_Silent_p.G205G|TRPV4_ENST00000537083.1_Silent_p.G205G|TRPV4_ENST00000392719.2_Silent_p.G205G|TRPV4_ENST00000261740.2_Silent_p.G205G|TRPV4_ENST00000541794.1_Silent_p.G205G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	205					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTCGTTGCGGCCATTGCTCA	0.577000													7	27					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725577	158725577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158725577G>A	ENST00000368144.2	+	1	1068	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACAAGGACATGAAAGAGGCTA	0.453000													15	83					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41101087	41101087	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:41101087G>A	ENST00000373198.3	-	8	1504	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	PTPRT_ENST00000356100.2_Silent_p.T423T|PTPRT_ENST00000373201.1_Silent_p.T423T|PTPRT_ENST00000373184.1_Silent_p.T423T|PTPRT_ENST00000373187.1_Silent_p.T423T|PTPRT_ENST00000373190.1_Silent_p.T423T|PTPRT_ENST00000373193.3_Silent_p.T423T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	423	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTACTGCACGGTGAGGTTGT	0.607000													17	51					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67109305	67109305	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:67109305T>A	ENST00000371037.4	+	7	439	c.362T>A	c.(361-363)aTt>aAt	p.I121N	SGIP1_ENST00000371035.3_Missense_Mutation_p.I78N|SGIP1_ENST00000371036.3_Missense_Mutation_p.I96N|SGIP1_ENST00000371039.1_Missense_Mutation_p.I97N|SGIP1_ENST00000237247.6_Missense_Mutation_p.I125N|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	121					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATATCAAGATTAAACCATTG	0.358000													40	45					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168222545	168222545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:168222545C>T	ENST00000519560.1	-	10	1393	c.974G>A	c.(973-975)gGa>gAa	p.G325E	SLIT3_ENST00000332966.8_Missense_Mutation_p.G325E|SLIT3_ENST00000404867.3_Missense_Mutation_p.G325E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	325					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGAAGGCTCCTGCAGGGAT	0.478000													16	69					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265883	39265883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:39265883C>T	ENST00000280481.7	+	1	4618	c.4402C>T	c.(4402-4404)Cac>Tac	p.H1468Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1468					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGCGAGGTCACCTGGAATG	0.478000													9	28					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156671278	156671278	+	Silent	SNP	C	C	T	rs55635546		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156671278C>T	ENST00000422843.3	+	13	1391	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	413	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGGAAACTCTCTCATCCCA	0.493000			T	SYK	peripheral T-cell lymphoma								8	32					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723658	28723658	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28723658C>T	ENST00000257197.3	-	8	1297	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	DSC1_ENST00000257198.5_Missense_Mutation_p.D346N|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	346	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCATTTTCATCCTCAAGTGAA	0.343000													7	16					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928890	2928890	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:2928890G>A	ENST00000397461.1	+	9	1306	c.922G>A	c.(922-924)Gga>Aga	p.G308R	CNTN4_ENST00000418658.1_Missense_Mutation_p.G308R|CNTN4_ENST00000427331.1_Missense_Mutation_p.G308R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G89R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	308	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTAGCAAGGGGACAGCTAAC	0.378000													4	32					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631221	140631221	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:140631221G>A	ENST00000520439.1	-	2	468	c.405C>T	c.(403-405)ttC>ttT	p.F135F	KCNK9_ENST00000303015.1_Silent_p.F135F			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	135						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTAGCGCACGAAGGTGTTCA	0.582000													4	28					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66441133	66441133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:66441133C>T	ENST00000404260.3	+	23	3337	c.3029C>T	c.(3028-3030)cCt>cTt	p.P1010L	MAST4_ENST00000405643.1_Missense_Mutation_p.P828L|MAST4_ENST00000403625.2_Missense_Mutation_p.P1007L|MAST4_ENST00000403666.1_Missense_Mutation_p.P818L|MAST4_ENST00000261569.7_Missense_Mutation_p.P813L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1010						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAGCCCTTCCTCCTGAAGAG	0.612000													6	29					0	0	1	0	0
RRP7A	27341	broad.mit.edu	37	22	42910224	42910224	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:42910224G>A	ENST00000323013.6	-	6	660	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	215							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CAGTCCGGGGGAGCACAGGCC	0.657000													6	59					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46494544	46494544	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:46494544G>A	ENST00000361297.2	+	18	2440	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	MAST2_ENST00000372008.1_Silent_p.L604L|MAST2_ENST00000372009.2_Silent_p.L649L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	719	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATGAGTTCCTGGTGGGCTGCG	0.582000													132	125					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62989974	62989974	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:62989974C>T	ENST00000561311.1	+	14	1610	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	TLN2_ENST00000306829.6_Silent_p.S460S			Q9Y4G6	TLN2_HUMAN	talin 2	460					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTCGGGCTCCAGCGGGCCTG	0.662000													13	73					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19032984	19032984	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19032984C>T	ENST00000421369.3	+	4	722	c.164C>T	c.(163-165)tCc>tTc	p.S55F	TMC7_ENST00000569532.1_Missense_Mutation_p.S165F|TMC7_ENST00000304381.5_Missense_Mutation_p.S165F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	165						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCTATTTCTCCTTCTTGAGA	0.408000													27	43					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927535	176927535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176927535G>A	ENST00000367654.2	-	10	1719	c.1706C>T	c.(1705-1707)cCa>cTa	p.P569L	ASTN1_ENST00000361833.2_Missense_Mutation_p.P561L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P561L|ASTN1_ENST00000424564.2_Missense_Mutation_p.P561L|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	569					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTTGCTGATGGATTGATGGC	0.552000													20	20					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124480	46124480	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:46124480G>A	ENST00000536630.1	-	14	1686	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	EML2_ENST00000245925.3_Silent_p.F369F|EML2_ENST00000589876.1_Silent_p.F369F|EML2_ENST00000587152.1_Silent_p.F570F	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	369					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCAGCAGTGAGAAGCCTGTGT	0.647000													12	19					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306220	2306220	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:2306220G>A	ENST00000290974.2	-	8	2186	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P546L|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P586L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	616					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ATCTTCTGAGGGTGGGGGCGC	0.667000													32	61					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175917	55175917	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55175917C>T	ENST00000391736.1	+	6	951	c.636C>T	c.(634-636)ccC>ccT	p.P212P	LILRB4_ENST00000430952.2_Silent_p.P212P|LILRB4_ENST00000391734.3_Silent_p.P212P|LILRB4_ENST00000270452.2_Silent_p.P212P|LILRB4_ENST00000391733.3_Silent_p.P212P	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	212	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAGTGACCCCCTGGAGCTCA	0.612000													22	34					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298869	37298869	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:37298869G>A	ENST00000310758.4	-	6	977	c.330C>T	c.(328-330)ctC>ctT	p.L110L	ELMO1_ENST00000448602.1_Silent_p.L110L|ELMO1_ENST00000442504.1_Silent_p.L110L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	110					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						CATCCCGGGAGAGGCTGGCCA	0.547000													17	29					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73620622	73620622	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:73620622C>T	ENST00000544909.1	+	5	971	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PAAF1_ENST00000376384.5_Silent_p.S220S|PAAF1_ENST00000310571.3_Silent_p.S237S|PAAF1_ENST00000535604.1_Silent_p.S122S|PAAF1_ENST00000544552.1_Silent_p.S220S|PAAF1_ENST00000541951.1_Silent_p.S122S|PAAF1_ENST00000536003.1_Silent_p.S220S			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	237					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACCTTGGCTCCCCTGAGCAGA	0.473000													20	29					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33140318	33140318	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33140318C>T	ENST00000341947.2	-	39	3114	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	COL11A2_ENST00000361917.1_Missense_Mutation_p.E856K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E916K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E882K|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.E937K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E903K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E942K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E877K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	963	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTTGTTCCTTCTTTTCCAGCT	0.632000													34	50					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351400	89351400	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:89351400G>A	ENST00000301030.4	-	9	2010	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S517F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	517	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCAGAGAGGGAGCTGAACAG	0.637000													14	32					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27161293	27161293	+	Missense_Mutation	SNP	G	G	A	rs147586444		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:27161293G>A	ENST00000429845.2	-	36	3681	c.3319C>T	c.(3319-3321)Cgt>Tgt	p.R1107C	NEK10_ENST00000383771.4_Missense_Mutation_p.R409C|NEK10_ENST00000383770.3_Missense_Mutation_p.R362C|NEK10_ENST00000295720.6_Missense_Mutation_p.R419C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1107							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1107C(1)|p.R1060C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCGGATGAACGATGTAATAAA	0.393000													10	52					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21984571	21984571	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:21984571C>T	ENST00000381418.4	-	3	2864	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	HR_ENST00000312841.8_Missense_Mutation_p.G462R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	462							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCATGCTGTCCCGAGTCCACA	0.672000													25	88					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94166830	94166830	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:94166830C>A	ENST00000297273.4	+	9	1177	c.890C>A	c.(889-891)cCt>cAt	p.P297H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	297						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTTGAAGCCTGTAGATGGG	0.343000													25	107					7.26314e-15	7.39221e-15	1	1	0
AGK	55750	broad.mit.edu	37	7	141301038	141301038	+	Silent	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141301038C>A	ENST00000355413.4	+	5	515	c.255C>A	c.(253-255)gcC>gcA	p.A85A	AGK_ENST00000535825.1_Silent_p.A82A|AGK_ENST00000473247.1_Silent_p.A57A	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	85	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAAATGCTGCCCCGATTTTAC	0.358000													11	45					4.93089e-13	5.01042e-13	1	1	0
THOC5	8563	broad.mit.edu	37	22	29935384	29935384	+	Silent	SNP	G	G	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:29935384G>C	ENST00000490103.1	-	6	656	c.534C>G	c.(532-534)gtC>gtG	p.V178V	THOC5_ENST00000397872.1_Silent_p.V178V|THOC5_ENST00000397873.2_Silent_p.V178V|THOC5_ENST00000397871.1_Silent_p.V178V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	178	Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCCATGGTGACTTCGGCCT	0.483000													33	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283244	152283244	+	Missense_Mutation	SNP	A	A	G	rs140909774		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152283244A>G	ENST00000368799.1	-	3	4153	c.4118T>C	c.(4117-4119)aTt>aCt	p.I1373T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1373	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)			TCTGTGCCCAATGCCTGAGTG	0.542000									Ichthyosis				151	255					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50888521	50888521	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:50888521G>A	ENST00000313478.7	-	23	3502	c.3221C>T	c.(3220-3222)cCa>cTa	p.P1074L	TRPM7_ENST00000560955.1_Missense_Mutation_p.P1074L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1074					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTGAAGAAATGGAGTCAACCA	0.313000													24	10					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028953	62028953	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62028953T>A	ENST00000578147.1	-	14	2760	c.2684A>T	c.(2683-2685)aAc>aTc	p.N895I	SCN4A_ENST00000435607.1_Missense_Mutation_p.N895I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	895					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCCCATGTGGTTCAGGATGTG	0.637000													10	33					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41863828	41863828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:41863828C>T	ENST00000263798.3	+	14	1920	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F	TYRO3_ENST00000559066.1_Missense_Mutation_p.L521F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	566	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGAAGAGTTCCTCAGGGAAGC	0.498000													20	52					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73100387	73100387	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:73100387C>T	ENST00000264839.7	+	26	4001	c.4001C>T	c.(4000-4002)cCg>cTg	p.P1334L	RIMS1_ENST00000425662.2_Missense_Mutation_p.P553L|RIMS1_ENST00000517827.1_Missense_Mutation_p.P619L|RIMS1_ENST00000401910.3_Missense_Mutation_p.P805L|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1268L|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1135L|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1308L|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1164L|RIMS1_ENST00000538414.1_Missense_Mutation_p.P291L|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1268L|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.P12L|RIMS1_ENST00000523963.1_Missense_Mutation_p.P610L|RIMS1_ENST00000521978.1_Missense_Mutation_p.P1485L|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1084L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1485					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTAAGGCAGCCGAGCCGAGAG	0.498000													10	13					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3432136	3432136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:3432136C>T	ENST00000301365.4	-	10	1527	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	TRPV3_ENST00000572519.1_Missense_Mutation_p.E466K|TRPV3_ENST00000576742.1_Missense_Mutation_p.E466K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	466						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGTACCTCCTCCTCCCGGGGG	0.577000													10	28					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157375	154157375	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:154157375G>A	ENST00000360256.4	-	14	4890	c.4690C>T	c.(4690-4692)Ccc>Tcc	p.P1564S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1564	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P1564S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCAGAAAGGGAACTTTTCCA	0.483000													129	39					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210993	59210993	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:59210993C>T	ENST00000302030.2	+	1	377	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCCTCCTCCTGACTGCTAT	0.542000													53	172					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362702	153362702	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:153362702G>A	ENST00000368733.3	-	3	328	c.159C>T	c.(157-159)gtC>gtT	p.V53V	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Silent_p.V53V	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	53	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTTGAACCAGACGTCTGCAC	0.483000													26	96					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669854	158669854	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158669854T>G	ENST00000359610.2	-	1	632	c.589A>C	c.(589-591)Att>Ctt	p.I197L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACTACCTGAATCATGACGATG	0.458000													18	94					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1157524	1157524	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1157524C>T	ENST00000356191.2	+	11	697	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCATGGAATTCGGGAACCTGC	0.637000													3	13					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45691461	45691461	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45691461G>A	ENST00000216211.4	+	6	757	c.725G>A	c.(724-726)gGg>gAg	p.G242E	UPK3A_ENST00000396082.2_Missense_Mutation_p.G121E	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	242					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGTTCTGATGGGGAAACGACT	0.582000													26	206					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740029	39740029	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39740029C>T	ENST00000167586.6	-	4	996	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	304	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AAGAACCATTCCTCGGCATCC	0.547000													80	128					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229776	7229776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:7229776C>T	ENST00000379938.2	+	10	1981	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	RREB1_ENST00000334984.6_Missense_Mutation_p.P482S|RREB1_ENST00000379933.3_Missense_Mutation_p.P482S|RREB1_ENST00000349384.6_Missense_Mutation_p.P482S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	482	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCGGCTCCCCCTCAGATCAG	0.617000													86	321					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869216	22869216	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:22869216C>T	ENST00000302097.3	-	2	991	c.739G>A	c.(739-741)Gag>Aag	p.E247K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGGCCAGACTCATTTGCTCTC	0.408000													22	62					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868786	189868786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:189868786C>T	ENST00000304636.3	+	39	2910	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	914	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P914T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CACTGGTGCTCCTGGCAGCCC	0.567000													7	17					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868415	39868415	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:39868415C>T	ENST00000314471.6	+	10	2430	c.1395C>T	c.(1393-1395)ccC>ccT	p.P465P	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Silent_p.P465P	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	465							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCCCGGCTCCCGTCGCCGACG	0.617000													10	29					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569993	22569993	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:22569993G>A	ENST00000510882.2	+	1	199	c.189G>A	c.(187-189)aaG>aaA	p.K63K	HDGFL1_ENST00000230012.3_Silent_p.K63K			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	63										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGGAGTGCAAGGAGAAGTTCG	0.607000													10	24					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255665	42255665	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42255665G>A	ENST00000293414.1	+	5	1353	c.1269G>A	c.(1267-1269)ttG>ttA	p.L423L	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	423	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGCTCGGTTGGGAAGCCGCT	0.672000													11	27					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071469	10071469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:10071469G>A	ENST00000264828.3	-	66	5034	c.4949C>T	c.(4948-4950)tCc>tTc	p.S1650F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1650	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ATTCTGGCAGGAGTAGGTGAA	0.592000													20	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067633	9067633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9067633C>T	ENST00000397910.4	-	3	20016	c.19813G>A	c.(19813-19815)Gaa>Aaa	p.E6605K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6607	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATAAGATTCCTTTTCAGAA	0.423000													34	79					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261246	16261246	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:16261246C>T	ENST00000375759.3	+	11	8715	c.8511C>T	c.(8509-8511)atC>atT	p.I2837I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2837	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAGCCAGATCCCCCCGGCCA	0.572000													26	22					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	313370	313370	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:313370C>T	ENST00000399932.3	+	9	1532	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	ITFG3_ENST00000301679.2_Missense_Mutation_p.R361C|ITFG3_ENST00000301678.3_Missense_Mutation_p.R361C|ITFG3_ENST00000450082.2_Missense_Mutation_p.R361C|ITFG3_ENST00000442458.2_Missense_Mutation_p.R361C|ITFG3_ENST00000600536.1_Missense_Mutation_p.R361C			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	361						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCTGACGCCTCGCTGGACACC	0.652000													10	51					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44492152	44492152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:44492152C>T	ENST00000398165.3	-	3	411	c.152G>A	c.(151-153)aGg>aAg	p.R51K	CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.R51K|CBS_ENST00000359624.3_Missense_Mutation_p.R51K|CBS_ENST00000352178.5_Missense_Mutation_p.R51K|CBS_ENST00000398168.1_Missense_Mutation_p.R51K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	51					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCAGGTGCACCTGCTCGGAGC	0.642000													60	63					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155591	151155591	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:151155591C>T	ENST00000282466.3	-	6	6757	c.6758G>A	c.(6757-6759)aGa>aAa	p.R2253K	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2253	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGGAATGTCTCACAGCTGT	0.423000													36	62					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62232944	62232944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:62232944G>A	ENST00000261517.5	-	47	5576	c.5503C>T	c.(5503-5505)Cca>Tca	p.P1835S	VPS13C_ENST00000395896.4_Missense_Mutation_p.P1835S|VPS13C_ENST00000395898.3_Missense_Mutation_p.P1792S|VPS13C_ENST00000249837.3_Missense_Mutation_p.P1792S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1835					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATGTTGACTGGTTTTAAAATT	0.328000													26	19					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248617031	248617031	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248617031C>T	ENST00000342927.3	+	1	955	c.933C>T	c.(931-933)tcC>tcT	p.S311S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTGGTTCCTCCCAGAGCA	0.547000													15	29					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31012882	31012882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:31012882G>A	ENST00000215095.5	-	2	304	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	STX1B_ENST00000565419.1_Missense_Mutation_p.R25W	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	25					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AAGTGGTCCCGATCCACGTGG	0.627000													15	26					0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44351096	44351096	+	Silent	SNP	G	G	A	rs8117724	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:44351096G>A	ENST00000279058.3	+	1	107	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	30			A -> E (in dbSNP:rs16990631).			extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ATAAAATTGCGGAGAAGATAT	0.398000													9	39					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71069075	71069075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:71069075G>A	ENST00000452400.2	-	11	1706	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	509					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTTCCTGCAGGGGAAAACTGA	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	32					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193153	132193153	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:132193153G>A	ENST00000359827.3	-	2	1262	c.300C>T	c.(298-300)atC>atT	p.I100I	PLXNA4_ENST00000378539.5_Silent_p.I100I|PLXNA4_ENST00000423507.2_Silent_p.I100I|PLXNA4_ENST00000321063.4_Silent_p.I100I			Q9HCM2	PLXA4_HUMAN	plexin A4	100	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGTCTGGACGATGCGGGGTG	0.557000													21	44					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148903910	148903910	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:148903910C>T	ENST00000262085.3	+	3	813	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF282_ENST00000479907.1_Silent_p.S236S	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	236	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCCTCATGTCCCTGGGTAAGG	0.478000													19	83					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111319064	111319064	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:111319064C>T	ENST00000308208.5	+	7	1059	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	CCDC63_ENST00000545036.1_Missense_Mutation_p.R233C|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Missense_Mutation_p.R194C	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	273										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGAATGATCGCAATGAATT	0.517000													13	12					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55707973	55707973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55707973C>T	ENST00000376350.3	-	10	2196	c.2174G>A	c.(2173-2175)cGg>cAg	p.R725Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R547Q|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	725	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGGTAGGACCGAGCCGGCCC	0.637000													17	35					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73377025	73377025	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:73377025C>T	ENST00000224721.6	+	10	1029	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L	CDH23_ENST00000299366.7_Silent_p.L382L|CDH23_ENST00000461841.3_Silent_p.L382L|CDH23_ENST00000398842.3_Silent_p.L337L|CDH23_ENST00000398809.4_Silent_p.L337L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	337	Cadherin 3.				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						CTTCAATATCCTGGTTATTGA	0.557000													5	27					0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600620	48600620	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:48600620C>T	ENST00000244050.2	+	2	403	c.342C>T	c.(340-342)tcC>tcT	p.S114S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	114					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTCCTTCTCCTCTACTTCAG	0.632000													24	91					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21212827	21212827	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:21212827G>A	ENST00000574002.1	-	15	2039	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	ZP2_ENST00000219593.4_Silent_p.F519F|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.F510F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	519	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)		GTTGGCGGAGGAATCTCACTA	0.453000													20	74					0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29578145	29578145	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:29578145G>A	ENST00000375500.3	+	1	156	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				CAGGCACCAGGAATCTGCCTT	0.507000													5	8					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38321818	38321818	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:38321818C>T	ENST00000215957.6	+	8	1359	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	411	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGAGGTGGCCCAGCCGAGCC	0.642000													10	27					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445161	92445161	+	Silent	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:92445161T>A	ENST00000370389.2	+	8	1839	c.915T>A	c.(913-915)atT>atA	p.I305I	BRDT_ENST00000362005.3_Silent_p.I378I|BRDT_ENST00000394530.3_Silent_p.I332I|BRDT_ENST00000399546.2_Silent_p.I378I|BRDT_ENST00000402388.1_Silent_p.I378I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	378	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGATCCCGATTGAACCTGTTG	0.353000													15	39					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188900	140188900	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140188900C>A	ENST00000530339.1	+	1	2128	c.2128C>A	c.(2128-2130)Ctt>Att	p.L710I	PCDHA4_ENST00000512229.2_Missense_Mutation_p.L710I|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L710I|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCCAGCCTTTTGGTGCT	0.662000													20	59					3.5997e-14	3.66219e-14	1	1	0
GPR112	139378	broad.mit.edu	37	X	135469957	135469957	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135469957C>T	ENST00000394143.1	+	16	8126	c.7835C>T	c.(7834-7836)tCa>tTa	p.S2612L	GPR112_ENST00000370652.1_Missense_Mutation_p.S2612L|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.S2407L|GPR112_ENST00000394141.1_Missense_Mutation_p.S2407L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2612					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGCCTAAATCACTGACGGAG	0.388000													28	58					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359881	124359881	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:124359881G>A	ENST00000409039.3	+	46	7713	c.7688G>A	c.(7687-7689)cGa>cAa	p.R2563Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2563	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGCATTCGAGACCTTGGC	0.468000													4	18					0	0	1	0	0
CCDC43	124808	broad.mit.edu	37	17	42759409	42759409	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42759409G>A	ENST00000315286.8	-	3	398	c.390C>T	c.(388-390)gcC>gcT	p.A130A	CCDC43_ENST00000457422.2_Silent_p.A130A|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Silent_p.A130A	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	130										lung(2)	2		Prostate(33;0.0322)				GGGCCAGGAGGGCAGCTTTTC	0.483000													18	109					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97983714	97983714	+	Silent	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:97983714G>T	ENST00000224337.5	-	6	534	c.393C>A	c.(391-393)ccC>ccA	p.P131P	BLNK_ENST00000371176.2_Silent_p.P131P|BLNK_ENST00000427367.2_Silent_p.P131P|BLNK_ENST00000413476.2_Silent_p.P131P	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	131	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTGCTGAAGGGTGGGGAAT	0.507000													14	54					1.99824e-07	2.01664e-07	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111061056	111061056	+	Silent	SNP	C	C	T	rs34454042		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:111061056C>T	ENST00000369771.2	-	1	741	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	118						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGAACTGCATCCTTTTTTCCC	0.463000													14	53					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945268	151945268	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:151945268C>T	ENST00000355193.2	-	14	2469	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D751N					lysine (K)-specific methyltransferase 2C																		TATGAAACATCTTTCACACAA	0.388000													8	148					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120266046	120266046	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:120266046T>C	ENST00000369407.3	+	2	1743	c.236T>C	c.(235-237)aTg>aCg	p.M79T	PHGDH_ENST00000369409.4_Missense_Mutation_p.M113T			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	113					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ACTTGTGGAATGATCATGTGC	0.493000													13	40					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35647928	35647928	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:35647928C>T	ENST00000287272.2	+	16	2522	c.2502C>T	c.(2500-2502)aaC>aaT	p.N834N	UNC5D_ENST00000449677.1_Silent_p.N479N|UNC5D_ENST00000453357.2_Silent_p.N898N|UNC5D_ENST00000416672.1_Silent_p.N908N|UNC5D_ENST00000404895.2_Silent_p.N903N|UNC5D_ENST00000420357.1_Silent_p.N836N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	903					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCATTTTGAACCTGTGGGAAG	0.423000													25	31					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089295	43089295	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43089295C>T	ENST00000401850.1	-	2	1152	c.663G>A	c.(661-663)ctG>ctA	p.L221L	A4GALT_ENST00000381278.3_Silent_p.L221L|A4GALT_ENST00000249005.2_Silent_p.L221L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	221					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCTCGAAGGCCAGGAACGCGC	0.627000													15	37					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64416264	64416264	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64416264G>A	ENST00000265459.6	-	16	3686	c.3225C>T	c.(3223-3225)ctC>ctT	p.L1075L	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.L1035L|NRXN2_ENST00000409571.1_Silent_p.L1068L|NRXN2_ENST00000377551.1_Silent_p.L1075L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1075	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGGTCTGGGAGACGTCCGT	0.632000													21	62					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45094993	45094993	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45094993C>T	ENST00000340648.4	+	6	615	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	166					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAGTGAGATTCCACTTCATTG	0.527000													33	85					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163393492	163393492	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:163393492C>T	ENST00000332142.5	-	3	505	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	KCNH7_ENST00000328032.4_Missense_Mutation_p.E136K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	136	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAGCGTTTTCATTATCCGTC	0.383000													28	60					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146913	52146913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:52146913G>A	ENST00000360844.6	-	6	1066	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	342					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ACATATGCAGGAAGAGGAGCT	0.592000													23	9					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201518	48201518	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:48201518C>T	ENST00000394747.1	-	28	4294	c.3945G>A	c.(3943-3945)ctG>ctA	p.L1315L	ABCC11_ENST00000394748.1_Silent_p.L1315L|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.L1315L|ABCC11_ENST00000353782.5_Silent_p.L1277L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1315	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGCGCTGGATCAGGGTGTCTG	0.532000													23	29					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34626240	34626240	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:34626240G>A	ENST00000374789.3	-	17	2857	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	PARD3_ENST00000545693.1_Silent_p.F828F|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000544292.1_Silent_p.F558F|PARD3_ENST00000374776.1_Intron|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000374788.3_Silent_p.F841F|PARD3_ENST00000374773.1_Intron|PARD3_ENST00000374790.3_Silent_p.F784F|PARD3_ENST00000374794.3_Silent_p.F784F|PARD3_ENST00000346874.4_Silent_p.F844F|PARD3_ENST00000340077.5_Silent_p.F841F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	844	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTGTTTTAACGAAATCCAATT	0.338000													3	21					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103824604	103824604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:103824604G>A	ENST00000545943.1	-	8	929	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ORC5_ENST00000297431.4_Missense_Mutation_p.P234S|ORC5_ENST00000447452.2_Missense_Mutation_p.P234S			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	234					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAATATTTAGGAAAATTAAGT	0.264000													3	6					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240420	126240420	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:126240420C>T	ENST00000394329.3	+	1	2867	c.2854C>T	c.(2854-2856)Ctt>Ttt	p.L952F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	952	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTAGTCTGCTTGGGCCCCT	0.463000													7	16					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17306100	17306100	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:17306100C>T	ENST00000595618.1	+	22	4016	c.3864C>T	c.(3862-3864)ccC>ccT	p.P1288P	MYO9B_ENST00000594824.1_Silent_p.P1288P|MYO9B_ENST00000397274.2_Silent_p.P1288P	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1288	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.P1288P(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGAAAAGCCCGACAGCCCCG	0.706000													15	58					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736223	140736223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140736223C>T	ENST00000571252.1	+	1	1456	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCCCGAATCACTTA	0.507000													31	95					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665134	25665134	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:25665134G>A	ENST00000435706.2	-	21	2785	c.2584C>T	c.(2584-2586)Ccc>Tcc	p.P862S	TOP2B_ENST00000264331.4_Missense_Mutation_p.P867S			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	867					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAAACCATGGGAATTATAGGA	0.403000													11	39					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151604815	151604815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151604815G>A	ENST00000535741.1	-	37	6282	c.5809C>T	c.(5809-5811)Cat>Tat	p.H1937Y	LRBA_ENST00000357115.3_Missense_Mutation_p.H1937Y|LRBA_ENST00000507224.1_Missense_Mutation_p.H1937Y|LRBA_ENST00000510413.1_Missense_Mutation_p.H1937Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1937						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTATCAAATGATCACACATC	0.378000													16	22					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059772	141059772	+	Silent	SNP	G	G	A	rs146312944		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:141059772G>A	ENST00000239440.4	-	2	347	c.282C>T	c.(280-282)ccC>ccT	p.P94P	ARAP3_ENST00000508305.1_Silent_p.P16P	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	94	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTTCGGCACGGGCTTAGGGG	0.652000													14	80					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723688	50723688	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:50723688G>A	ENST00000515869.1	-	6	2997	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Silent_p.F491F|PGBD3_ENST00000603152.1_Silent_p.F959F|ERCC6-PGBD3_ENST00000447839.2_Silent_p.F959F|PGBD3_ENST00000374127.3_Silent_p.F491F	NM_001277059.1	NP_001263988.1																					AGACCAGTTCGAAACAGAACA	0.418000													23	81					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185183	127185183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:127185183C>T	ENST00000371124.3	-	1	1199	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	335						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AAGCATCTATCAGGAGAAGCT	0.532000													31	22					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													40	86					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742739	56742739	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:56742739G>A	ENST00000314128.4	-	17	1568	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	STAT2_ENST00000557235.1_Silent_p.D511D|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	515					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCTCAGCTGGTCTGAGTTGA	0.547000													11	54					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330410	7330410	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7330410C>T	ENST00000333870.3	+	3	1174	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	367						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCACCCATCCACGGAACCC	0.697000													7	16					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762205	24762205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:24762205C>T	ENST00000376451.2	+	2	309	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R17C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R299C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R219C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R17C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R299C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R17C|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R220C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R299C			Q5T5P2	SKT_HUMAN	KIAA1217	299					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGGGGCCCCTCGCCCCGGATC	0.517000													17	44					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649403	102649403	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:102649403C>T	ENST00000279441.4	-	4	610	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	192					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGAATATCTCCATAAAGCCCA	0.443000													12	24					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880922	142880922	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142880922G>A	ENST00000446620.1	+	1	411	c.411G>A	c.(409-411)gtG>gtA	p.V137V		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	137					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCTACTTTGTGAAGATTGCCA	0.393000													38	58					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244316	1244316	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:1244316G>A	ENST00000581398.1	+	0	270				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA	NR_033339.1																						CAGGGGACAAGGGGTCGTAGC	0.592000													25	120					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28321268	28321268	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:28321268G>A	ENST00000380254.2	-	4	351	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Missense_Mutation_p.S56F|FBXO16_ENST00000346498.2_Missense_Mutation_p.S56F	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	68										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CTTTTGCTGGGACAGCGAGCA	0.428000													3	32					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53974864	53974864	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:53974864C>T	ENST00000312233.2	-	9	2200	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	545					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GTGGGTCTCCCCGACCAGTCC	0.652000													5	14					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137076	32137076	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:32137076C>T	ENST00000312561.4	+	4	3601	c.3187C>T	c.(3187-3189)Cct>Tct	p.P1063S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAAAGAGTTTCCTTATGGCAT	0.433000													46	72					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3755542	3755542	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3755542G>A	ENST00000378230.3	-	8	1201	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	293						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TCGGCATCCAGGAGGCTGTGC	0.562000													36	156					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134523	33134523	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33134523C>T	ENST00000341947.2	-	59	4539	c.4312G>A	c.(4312-4314)Ggc>Agc	p.G1438S	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1331S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1391S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1357S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1412S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1378S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1417S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1352S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1438	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGGGAGCCCTGAGGCCCA	0.632000													14	62					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:93375576G>A	ENST00000375765.3	-	2	922	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.I178I(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547000													41	25					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026503	153026503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:153026503C>T	ENST00000285900.5	+	3	579	c.236C>T	c.(235-237)tCc>tTc	p.S79F	GRIA1_ENST00000340592.5_Missense_Mutation_p.S79F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S89F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S89F|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.S10F|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	79					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCCAGTTCTCCAAAGGAGTC	0.453000													18	72					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977980	53977980	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:53977980A>T	ENST00000263634.3	-	3	429	c.295T>A	c.(295-297)Tta>Ata	p.L99I	ASB3_ENST00000406625.2_Missense_Mutation_p.L134I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.L26I|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.L137I|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.L26I	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		134					intracellular signal transduction												CCAGCTTCTAAAAGAATCTGT	0.378000													9	25					0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68772760	68772760	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:68772760C>T	ENST00000309099.6	-	3	1400	c.1018G>A	c.(1018-1020)Ggg>Agg	p.G340R	MRGPRF_ENST00000441623.1_Missense_Mutation_p.G340R	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	340						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGCGTTCCCCGGGGGACAC	0.687000													3	1					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082654	9082654	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9082654G>A	ENST00000397910.4	-	1	9364	c.9161C>T	c.(9160-9162)tCa>tTa	p.S3054L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3055	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAAATAGTGAAGTCTTTCT	0.478000													13	49					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677329	149677329	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149677329C>T	ENST00000328668.7	-	2	1737	c.1158G>A	c.(1156-1158)acG>acA	p.T386T		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	386						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGATCTCCGTGCGTGGTG	0.652000													31	44					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051656	96051656	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:96051656C>T	ENST00000297954.4	+	20	4731	c.4731C>T	c.(4729-4731)ccC>ccT	p.P1577P	WNK2_ENST00000395477.2_Silent_p.P1540P|WNK2_ENST00000349097.3_Silent_p.P1189P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.P1152P|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1577					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCGCCCCCCAGGGTGGGCT	0.692000													8	19					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625136	56625136	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:56625136C>T	ENST00000266980.4	+	2	371	c.78C>T	c.(76-78)gtC>gtT	p.V26V	SLC39A5_ENST00000454355.2_Silent_p.V26V	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	26					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTCAGTCCCCAACCTGG	0.632000													32	104					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49168221	49168221	+	Silent	SNP	G	G	A	rs115957272	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49168221G>A	ENST00000307885.4	-	13	2941	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	ADCY6_ENST00000357869.3_Silent_p.S749S|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Silent_p.S749S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	749					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAAGCAGGACGGAAAAGATGC	0.557000													19	28					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3411056	3411056	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3411056G>A	ENST00000356575.4	-	32	4234	c.4008C>T	c.(4006-4008)ccC>ccT	p.P1336P	MEGF6_ENST00000294599.4_Silent_p.P1101P	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1336						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCGCCCAGGGGGACAGGCTG	0.706000													6	14					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1983503	1983503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:1983503C>T	ENST00000399161.2	-	6	794	c.47G>A	c.(46-48)gGg>gAg	p.G16E	MYT1L_ENST00000428368.2_Missense_Mutation_p.G16E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	16					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCTCGAACCCCTTTGGACCG	0.597000													6	16					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524487	10524487	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:10524487C>T	ENST00000396560.2	+	3	237	c.10C>T	c.(10-12)Cca>Tca	p.P4S	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P4S|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.P4S|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.P4S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GATGGCAAGTCCAGATAGAAG	0.323000													18	19					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89915686	89915686	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:89915686C>T	ENST00000389297.4	+	14	1880	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	C7orf63_ENST00000316089.8_Silent_p.G543G|C7orf63_ENST00000497910.1_Silent_p.G525G	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	543							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCCTATCTGGCCTTTGTGAGA	0.353000													24	54					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393341	18393341	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:18393341G>A	ENST00000440756.2	-	16	3164	c.3062C>T	c.(3061-3063)tCt>tTt	p.S1021F	PSD3_ENST00000523619.1_Missense_Mutation_p.S954F|PSD3_ENST00000286485.8_Missense_Mutation_p.S485F|PSD3_ENST00000428502.2_Missense_Mutation_p.S348F|PSD3_ENST00000327040.8_Missense_Mutation_p.S1019F			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1020					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGTGATTGGAGAAGTATCCGG	0.488000													11	74					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614561	135614561	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:135614561G>A	ENST00000520727.1	-	7	1664	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	ZFAT_ENST00000523399.1_Silent_p.F405F|ZFAT_ENST00000377838.3_Silent_p.F467F|ZFAT_ENST00000520356.1_Silent_p.F455F|ZFAT_ENST00000429442.2_Silent_p.F455F|ZFAT_ENST00000520214.1_Silent_p.F455F	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGAGCTGACGAACTTCTTGC	0.607000													10	29					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502406	20502406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:20502406G>A	ENST00000315693.2	-	1	513	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATAACATTGGGACCACAGAA	0.483000													25	23					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125274	12125274	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:12125274C>T	ENST00000379388.2	+	4	5578	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1749					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGATGCTTTCCCCAGCAAAT	0.433000													17	81					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097936	43097936	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43097936C>T	ENST00000244336.5	-	2	282	c.181G>A	c.(181-183)Gac>Aac	p.D61N	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	61	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCACGAGGGTCCTGGGGCAGA	0.517000													36	71					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874996	144874996	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144874996G>A	ENST00000356994.2	-	30	4065	c.4059C>T	c.(4057-4059)tcC>tcT	p.S1353S	SCRIB_ENST00000377533.3_Silent_p.S1272S|SCRIB_ENST00000320476.3_Silent_p.S1353S|SCRIB_ENST00000546337.1_5'UTR	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1353					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCCCGGAAGGACAGCTGCT	0.706000													3	9					0	0	1	0	0
WNT4	54361	broad.mit.edu	37	1	22446990	22446990	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22446990C>T	ENST00000290167.6	-	5	652	c.609G>A	c.(607-609)cgG>cgA	p.R203R	WNT4_ENST00000542383.1_Silent_p.R148R	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	203					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGCATTCCACCCGCATGTGTG	0.662000													13	20					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41271057	41271057	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:41271057C>T	ENST00000243563.3	+	6	1384	c.834C>T	c.(832-834)tcC>tcT	p.S278S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	278	RRM 2.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAAGATCTCCTTTGCCAAGA	0.587000													3	15					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117024753	117024753	+	Splice_Site	SNP	G	G	A	rs114220247	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:117024753G>A	ENST00000355044.3	+	11	1897	c.1772_splice	c.e11+1	p.G591_splice		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	591						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTCATTAACGGGTAAAAGAA	0.323000													15	61					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36897298	36897298	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:36897298G>A	ENST00000397224.4	-	5	1299	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	FOXRED2_ENST00000397223.4_Silent_p.F402F|FOXRED2_ENST00000216187.6_Silent_p.F402F	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	402					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGTGTATCGGAATCCGTGGA	0.542000													25	45					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010722	86010722	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:86010722G>A	ENST00000383699.3	+	8	1522	c.895G>A	c.(895-897)Gat>Aat	p.D299N	CADM2_ENST00000407528.2_Missense_Mutation_p.D290N|CADM2_ENST00000405615.2_Missense_Mutation_p.D292N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	290	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAACAAAACGGATAATGGTAC	0.418000													15	43					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846930	123846930	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:123846930G>A	ENST00000369005.1	+	4	5255	c.4915G>A	c.(4915-4917)Gag>Aag	p.E1639K	TACC2_ENST00000334433.3_Missense_Mutation_p.E1639K|TACC2_ENST00000515273.1_Missense_Mutation_p.E1639K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E1639K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1639K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1639						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCTCAGAGGGAGGTTTTGAC	0.592000													9	46					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74934147	74934147	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:74934147C>T	ENST00000569840.2	+	13	2080	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	MGAT5B_ENST00000301618.4_Silent_p.P500P|MGAT5B_ENST00000428789.2_Silent_p.P511P	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	502						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCAGCGGCCCCCCGAGGTGC	0.582000													30	59					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159278	130159278	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:130159278C>T	ENST00000265379.6	+	35	6590	c.6096C>T	c.(6094-6096)ttC>ttT	p.F2032F	COL6A5_ENST00000432398.2_Silent_p.F2032F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2032	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTTTGATTTCATCACTTATG	0.418000													27	28					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279178	50279178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50279178C>T	ENST00000216268.4	+	2	2345	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	623						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCGGCCCTCCTCTCCGGAC	0.532000													20	62					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96917772	96917772	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:96917772C>T	ENST00000267584.4	+	10	1007	c.963C>T	c.(961-963)gaC>gaT	p.D321D		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	321					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTGTCTTGACCATTTACTGG	0.343000													8	25					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34242626	34242626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:34242626G>A	ENST00000374114.3	-	3	882	c.619C>T	c.(619-621)Cca>Tca	p.P207S	RBM12_ENST00000359646.1_Missense_Mutation_p.P207S|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P207S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	207	Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACTGGAATTGGGGGAATGGAT	0.577000													15	56					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394228	233394228	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:233394228C>T	ENST00000258229.8	-	5	1614	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	460						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGATACCCTCGTCTTCAGTC	0.552000													28	12					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565406	11565406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11565406C>T	ENST00000359227.3	-	7	1463	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G340S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	347	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGCGATAGCCGTTCAGGCTG	0.632000													15	38					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811165	140811165	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140811165C>T	ENST00000252085.3	+	1	981	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGTATTCCTTCCGGTAT	0.532000													14	51					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40258627	40258627	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:40258627G>A	ENST00000280871.4	-	6	1306	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	419						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATGCGTGGGGAAACTTGGGC	0.398000										HNSCC(50;0.14)			61	41					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48684312	48684312	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:48684312G>A	ENST00000544264.1	-	22	7474	c.7194C>T	c.(7192-7194)gtC>gtT	p.V2398V	CELSR3_ENST00000164024.4_Silent_p.V2393V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2393					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGTGGGGGGACCACACTTG	0.582000													3	8					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658108	46658108	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:46658108A>T	ENST00000544460.1	+	1	2497	c.2243A>T	c.(2242-2244)tAt>tTt	p.Y748F	TDRD6_ENST00000316081.6_Missense_Mutation_p.Y748F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	748					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCATCTGTTTATTTTCCTCTT	0.383000													11	31					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085872	100085872	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100085872C>T	ENST00000423930.1	+	4	687	c.528C>T	c.(526-528)ttC>ttT	p.F176F	NYAP1_ENST00000454988.1_Silent_p.F119F|NYAP1_ENST00000300179.2_Silent_p.F176F			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	176																	CTGTCTCCTTCGATGAGTCCT	0.657000													70	98					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656706	31656706	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:31656706C>T	ENST00000375494.3	+	10	1076	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	359					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GCCTTGGTCTCCCTCCCAGCC	0.607000													21	50					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56173566	56173566	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:56173566C>T	ENST00000288221.6	-	6	1699	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	482						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCCTCTGTTCTTTGGCAGTA	0.433000													7	22					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830690	46830690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:46830690G>A	ENST00000283296.7	-	15	2422	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*	GPR116_ENST00000545669.1_Nonsense_Mutation_p.Q141*|GPR116_ENST00000362015.4_Nonsense_Mutation_p.Q712*|GPR116_ENST00000456426.2_Nonsense_Mutation_p.Q570*|GPR116_ENST00000265417.7_Nonsense_Mutation_p.Q712*	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	712					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCCTCCCACTGGGAGCCTACA	0.527000													34	107					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173454548	173454548	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:173454548C>T	ENST00000340385.5	+	3	433	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	101	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GTTACCTTTTCCCATCATCGA	0.468000													26	43					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55250661	55250661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:55250661G>A	ENST00000381298.2	-	11	1739	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T476I|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.T476I|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	476	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCGATGCACGGTACCATCTTC	0.383000			O		hepatocellular ca								28	112					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618277	28618277	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:28618277C>T	ENST00000395609.1	-	7	1252	c.494G>A	c.(493-495)gGa>gAa	p.G165E	SULT1A1_ENST00000569554.1_Missense_Mutation_p.G165E|SULT1A1_ENST00000350842.4_Missense_Mutation_p.G87E|SULT1A1_ENST00000395607.1_Missense_Mutation_p.G165E|SULT1A1_ENST00000314752.7_Missense_Mutation_p.G165E			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	165					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCCACCTTCTCCGACCATGAA	0.567000													25	70					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945562	7945562	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7945562C>T	ENST00000229307.4	+	2	387	c.168C>T	c.(166-168)tcC>tcT	p.S56S	NANOG_ENST00000526286.1_Silent_p.S56S	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	56					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTCTTCCTTCCTCCATGGATC	0.378000													36	103					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753996	123753996	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:123753996T>G	ENST00000375026.2	-	4	743	c.527A>C	c.(526-528)aAa>aCa	p.K176T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	176						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GTTGTCAGATTTATGGATGTT	0.458000													9	14					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213689	9213689	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9213689C>T	ENST00000305456.2	-	1	293	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCTTTGGGATCGTGGTTGTGC	0.488000													18	37					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17669279	17669279	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:17669279G>A	ENST00000399839.1	-	7	1301	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	CECR1_ENST00000449907.2_Missense_Mutation_p.P302L|CECR1_ENST00000262607.3_Missense_Mutation_p.P344L|CECR1_ENST00000399837.2_Missense_Mutation_p.P344L|CECR1_ENST00000330232.4_Missense_Mutation_p.P103L			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	344					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATCCTTGGCGGGGATCATCAG	0.602000													19	43					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19449389	19449389	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19449389G>A	ENST00000375267.2	-	66	9757	c.9754C>T	c.(9754-9756)Cgg>Tgg	p.R3252W	UBR4_ENST00000375254.3_Missense_Mutation_p.R3252W|UBR4_ENST00000375217.2_Missense_Mutation_p.R3245W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3228W			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3252					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACACTTGCCCGGAGGAATATC	0.587000													27	46					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98946518	98946518	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:98946518C>T	ENST00000432884.2	+	7	756	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	ARPC1A_ENST00000262942.5_Missense_Mutation_p.L146F			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	146					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCACAGTCCTCAGCTTGGA	0.488000													19	68					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27888834	27888834	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:27888834C>T	ENST00000413272.2	-	15	1976	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	NUGGC_ENST00000341513.6_Missense_Mutation_p.E612K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GTCATTTTCTCCTGCAGGGAC	0.428000													17	68					0	0	1	0	0
GTF2A2	2958	broad.mit.edu	37	15	59934455	59934455	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:59934455G>A	ENST00000396060.2	-	4	365	c.184C>T	c.(184-186)Cta>Tta	p.L62L	GTF2A2_ENST00000484743.1_Silent_p.L27L|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396061.1_Silent_p.L62L|GTF2A2_ENST00000396064.3_Intron|GTF2A2_ENST00000396063.1_Silent_p.L62L	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	62					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						TACGTATTTAGAGAGCCCTTT	0.338000													17	51					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136338637	136338637	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136338637G>A	ENST00000371899.4	-	8	1199	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G	SLC2A6_ENST00000371897.4_Intron|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	374						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCTTTCCAGGCCCGCAGTGC	0.647000													11	9					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57744905	57744905	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57744905C>T	ENST00000302804.7	+	5	699	c.513C>T	c.(511-513)aaC>aaT	p.N171N	AURKC_ENST00000599062.1_Silent_p.N168N|AURKC_ENST00000448930.1_Silent_p.N137N|AURKC_ENST00000598785.1_Silent_p.N137N|AURKC_ENST00000415300.2_Silent_p.N152N	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	171	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGCCAGAGAACCTGCTGCTGG	0.517000													9	35					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	715626	715626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:715626C>T	ENST00000547944.1	+	1	443	c.56C>T	c.(55-57)cCc>cTc	p.P19L	WDR90_ENST00000315764.4_Missense_Mutation_p.P19L|WDR90_ENST00000293879.4_Intron|WDR90_ENST00000547543.1_Intron|WDR90_ENST00000549091.1_Intron			Q96KV7	WDR90_HUMAN	WD repeat domain 90	600										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGCCTGCGTCCCTTTACCCTG	0.652000													21	58					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966743	17966743	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17966743C>T	ENST00000361221.3	+	21	2377	c.2218C>T	c.(2218-2220)Ccc>Tcc	p.P740S	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P701S|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P701S|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P443S|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P735S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P513S	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	740					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P740S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CACCCCCAACCCCCTGAGCAA	0.572000													12	17					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527315	157527315	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:157527315C>T	ENST00000346085.5	+	20	5041	c.5040C>T	c.(5038-5040)ctC>ctT	p.L1680L	ARID1B_ENST00000275248.4_Silent_p.L1662L|ARID1B_ENST00000350026.5_Silent_p.L1667L|ARID1B_ENST00000367148.1_Silent_p.L1720L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1667					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGATTTCTCGAACTTTTAG	0.418000													67	141					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76621053	76621053	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:76621053C>T	ENST00000261530.7	+	2	413	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S116F|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S116F|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S116F	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		GAATCTGACTCCTTTACTGAA	0.493000													13	30					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219167	42219167	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42219167C>T	ENST00000221992.6	+	3	816	c.703_splice	c.e3+1	p.L234_splice	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Splice_Site_p.L234_splice|CEACAM5_ENST00000405816.1_Splice_Site_p.L234_splice	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	234	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGAATGTCCTCTGTGAGTATA	0.512000													20	41					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45959050	45959050	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45959050G>A	ENST00000402984.3	+	16	2173	c.2070G>A	c.(2068-2070)agG>agA	p.R690R	FBLN1_ENST00000262722.7_Silent_p.R652R|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	670					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCGAGCCCAGGGACTTGCTCC	0.612000													13	77					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275625	5275625	+	Missense_Mutation	SNP	G	G	A	rs151258456		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5275625G>A	ENST00000380259.2	-	7	1452	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG2_ENST00000380252.1_Missense_Mutation_p.S61F|HBG2_ENST00000336906.4_Missense_Mutation_p.S71F					hemoglobin, gamma G									p.S71F(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCCAAGGAAGTCAGCAC	0.532000													15	119					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80640034	80640034	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:80640034C>T	ENST00000307624.3	-	9	953	c.924_splice	c.e9-1	p.D309_splice		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	309					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTGAAATCATCCTTTAATCAa	0.343000													10	36					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21555950	21555950	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:21555950A>G	ENST00000298925.5	+	17	1913	c.1760A>G	c.(1759-1761)gAg>gGg	p.E587G	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.E559G|NELL1_ENST00000325319.5_Missense_Mutation_p.E502G|NELL1_ENST00000532434.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	559	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGAATCATTGAGTGCCACAAC	0.483000													27	29					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767084	205767084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:205767084C>T	ENST00000367137.3	-	7	1954	c.940G>A	c.(940-942)Gag>Aag	p.E314K	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	314						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TACAACACCTCCCTTGTGGCT	0.592000													37	60					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315441	107315441	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107315441C>T	ENST00000265715.3	+	6	876	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	218					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTGGCAGATCCTTTGGTTGG	0.408000									Pendred syndrome				36	128					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225087	107225087	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:107225087G>T	ENST00000302917.1	-	2	363	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	91										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGCAGCCACTGCACCCTGCGG	0.597000													47	30					7.90463e-13	8.02889e-13	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50318524	50318524	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:50318524T>A	ENST00000404971.1	-	20	5114	c.3775A>T	c.(3775-3777)Agg>Tgg	p.R1259W	NRXN1_ENST00000402717.3_Missense_Mutation_p.R1211W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1219W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1219W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1211W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R237W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1219W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R184W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1219	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACCACTCCTCGTGAAACGA	0.448000													33	73					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887333	60887333	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:60887333G>A	ENST00000252999.3	-	69	9466	c.9400C>T	c.(9400-9402)Cgc>Tgc	p.R3134C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3134	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGCCAGGCGAAGGAAGCCG	0.682000													9	6					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646282	15646282	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:15646282T>G	ENST00000378076.3	-	20	2396	c.2043A>C	c.(2041-2043)gaA>gaC	p.E681D		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATATGCTCCTTCCCCTTCAT	0.358000													14	37					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335922	57335922	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57335922G>A	ENST00000326441.9	-	4	465	c.102C>T	c.(100-102)atC>atT	p.I34I	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.I34I|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	34					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTCCTATGATGACATCCG	0.483000													10	18					0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639987	30639987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:30639987C>T	ENST00000249075.3	-	3	417	c.262G>A	c.(262-264)Gac>Aac	p.D88N	LIF_ENST00000403987.3_Missense_Mutation_p.G28E	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	88					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GGCGGGAAGTCCGTCACGTTG	0.637000													7	37					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977725	56977725	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:56977725G>A	ENST00000371250.3	-	5	1284	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	245					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTGATACGCGAGACAGTCCC	0.572000													11	44					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66913580	66913580	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:66913580A>T	ENST00000269080.2	-	15	2077	c.1940T>A	c.(1939-1941)tTt>tAt	p.F647Y	ABCA8_ENST00000430352.2_Missense_Mutation_p.F687Y|ABCA8_ENST00000586539.1_Missense_Mutation_p.F687Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	647	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGGAGAGAAATACTTTCCT	0.388000													15	105					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744504	42744504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42744504G>A	ENST00000409122.2	+	5	1367	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	C17orf104_ENST00000359945.3_Missense_Mutation_p.E409K|C17orf104_ENST00000409464.1_Missense_Mutation_p.E243K	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	409										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GTTTGCAAAGGAAGCAGTATT	0.413000													18	54					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430106	135430106	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135430106C>T	ENST00000394143.1	+	6	4532	c.4241C>T	c.(4240-4242)tCa>tTa	p.S1414L	GPR112_ENST00000370652.1_Missense_Mutation_p.S1414L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1351L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1209L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1209L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1414					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGATACTTCATTTGTAGAT	0.428000													34	42					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908299	166908299	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:166908299C>T	ENST00000423058.2	-	6	911	c.894G>A	c.(892-894)gtG>gtA	p.V298V	SCN1A_ENST00000375405.3_Silent_p.V298V|SCN1A_ENST00000409050.1_Silent_p.V298V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.V298V|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	298						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTATAATTCACAGTTATAT	0.348000													6	11					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:197401903G>A	ENST00000273582.5	-	21	3315	c.2770C>T	c.(2770-2772)Ctg>Ttg	p.L924L	KIAA0226_ENST00000296343.5_Silent_p.L969L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	969	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677000													17	93					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317923	102317923	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:102317923C>T	ENST00000372728.3	-	3	519	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	94					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CTCAGCTTTTCCATCAGCTGT	0.493000													39	24					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43298834	43298834	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:43298834G>A	ENST00000269844.3	-	3	493	c.383C>T	c.(382-384)cCc>cTc	p.P128L	PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCGGGGTTGGGGGTCCAGGG	0.672000													5	16					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76170311	76170311	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76170311C>T	ENST00000267938.4	+	7	1065	c.683C>T	c.(682-684)tCa>tTa	p.S228L	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.S228L|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.S193L|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.S212L	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	228					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GGGATTTATTCAGTGGAACTC	0.338000													31	26					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916994	45916994	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:45916994C>T	ENST00000407215.3	-	4	453	c.372G>A	c.(370-372)cgG>cgA	p.R124R	SCRN2_ENST00000584123.1_Silent_p.R132R|SCRN2_ENST00000290216.9_Silent_p.R124R			Q96FV2	SCRN2_HUMAN	secernin 2	124					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGAGCTGCTCCGTTCCAAAG	0.607000													30	134					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733217	40733217	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:40733217C>T	ENST00000373198.3	-	26	3833	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E1187K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1168K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1188K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1178K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1177K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1181K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1178	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTGAAATTCATCTTTGATT	0.458000													16	70					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5135530	5135530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5135530C>T	ENST00000159111.4	+	15	2484	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	KDM4B_ENST00000536461.1_Missense_Mutation_p.P790S	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	756					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGGACCAGCCCCCTGATCGC	0.662000													6	8					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505103	159505103	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159505103C>T	ENST00000334857.2	-	1	739	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTTCTTCCGGCCCTCAGCTGA	0.478000													20	55					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699339	49699339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49699339C>T	ENST00000296452.4	+	6	10175	c.10061C>T	c.(10060-10062)tCc>tTc	p.S3354F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3354					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGCCATCTCCTCAAAGCGC	0.577000													19	43					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187196998	187196998	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:187196998C>T	ENST00000264692.4	+	6	720	c.387C>T	c.(385-387)ctC>ctT	p.L129L	F11_ENST00000403665.2_Silent_p.L181L			P03951	FA11_HUMAN	coagulation factor XI	181	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAACGAAGCTCGATAAAGTGG	0.368000													7	13					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057054	53057054	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53057054C>T	ENST00000359798.4	+	5	1065	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGGAAAGTCCTTCAGTTACA	0.408000													23	72					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568553	107568553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107568553G>A	ENST00000374736.3	-	31	4827	c.4433C>T	c.(4432-4434)cCc>cTc	p.P1478L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1478					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCCCCTGGGGGACACACAGG	0.572000													21	60					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710048	41710048	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:41710048C>T	ENST00000400454.1	-	8	2240	c.1763G>A	c.(1762-1764)aGc>aAc	p.S588N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	588	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACGTGGACGCTCTGGCTGGT	0.502000													35	61					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1269605	1269605	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:1269605G>A	ENST00000446702.2	+	4	913	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	CNTN6_ENST00000539053.1_Missense_Mutation_p.G24S|CNTN6_ENST00000350110.2_Missense_Mutation_p.G96S			Q9UQ52	CNTN6_HUMAN	contactin 6	96	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCAAGATATTGGCATGTACCA	0.438000													20	67					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421849	62421849	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:62421849C>T	ENST00000245663.4	-	2	412	c.262G>A	c.(262-264)Gac>Aac	p.D88N	ZBTB46_ENST00000395104.1_Missense_Mutation_p.D88N|ZBTB46_ENST00000302995.2_Missense_Mutation_p.D88N	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	88	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TACATGAAGTCGATGATGGCC	0.602000													11	21					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8038002	8038002	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:8038002G>A	ENST00000318888.4	-	10	1063	c.192C>T	c.(190-192)atC>atT	p.I64I	ABLIM2_ENST00000545242.1_Silent_p.I307I|ABLIM2_ENST00000546334.1_Silent_p.I307I|ABLIM2_ENST00000361581.5_Silent_p.I307I|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000341937.5_Silent_p.I307I|ABLIM2_ENST00000505872.1_Silent_p.I307I|ABLIM2_ENST00000361737.5_Silent_p.I307I|ABLIM2_ENST00000447017.2_Silent_p.I307I|ABLIM2_ENST00000407564.3_Silent_p.I307I|ABLIM2_ENST00000296372.8_Silent_p.I307I|ABLIM2_ENST00000428004.2_Silent_p.I307I|ABLIM2_ENST00000514025.1_Silent_p.I64I			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	307	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGTAGTCCAGGATCTCACCAC	0.572000													10	32					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:13365981G>A	ENST00000360228.5	-	29	4682	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_ENST00000573710.2_Silent_p.F1562F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1562					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.F1562F(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAGACACCACGAACTGCCACA	0.587000													8	23					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43128550	43128550	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43128550C>T	ENST00000230419.4	+	20	3365	c.3144C>T	c.(3142-3144)ccC>ccT	p.P1048P	PTK7_ENST00000481273.1_Silent_p.P1056P|PTK7_ENST00000352931.2_Silent_p.P992P|PTK7_ENST00000345201.2_Silent_p.P1008P|PTK7_ENST00000349241.2_Silent_p.P918P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	1048	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCCTCAGCCCCAAGGACCGGC	0.647000													20	49					0	0	1	0	0
STARD10	10809	broad.mit.edu	37	11	72492130	72492130	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:72492130A>C	ENST00000334805.6	-	2	1016	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	STARD10_ENST00000538437.1_5'UTR|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000543304.1_Missense_Mutation_p.F33V|STARD10_ENST00000538536.1_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.F33V	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	33	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCTGACCGGAAGCTGCGAAAG	0.642000													20	70					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409191	1409191	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:1409191G>A	ENST00000270349.9	-	11	1575	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S483F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	483					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAAGAGGATGGACGTGCCGGC	0.597000													5	21					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48331554	48331554	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:48331554G>A	ENST00000428869.2	-	6	657	c.399C>T	c.(397-399)atC>atT	p.I133I	MRO_ENST00000398439.3_Silent_p.I133I|MRO_ENST00000431965.2_Silent_p.I147I|MRO_ENST00000436348.2_Silent_p.I147I|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000588444.1_Silent_p.I133I|MRO_ENST00000256425.2_Silent_p.I133I			Q9BYG7	MSTRO_HUMAN	maestro	133						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCTGAAGGGTGATATCTATGA	0.433000													24	17					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401121	10401121	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10401121A>G	ENST00000226207.5	-	31	4389	c.4295T>C	c.(4294-4296)cTc>cCc	p.L1432P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1432						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						ATCAATCATGAGGTCCTCAAC	0.468000													47	21					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038949	11038949	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:11038949G>A	ENST00000470054.1	-	0	1254									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGATAATGAAAATGATGA	0.423000													22	318					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119548317	119548317	+	Silent	SNP	G	G	A	rs144781194	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:119548317G>A	ENST00000264025.3	-	3	1211	c.681C>T	c.(679-681)atC>atT	p.I227I	PVRL1_ENST00000340882.2_Silent_p.I227I|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Silent_p.I227I	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	227	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGTAGTTGACGATGCAGGCCA	0.632000													7	15					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812792	38812792	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38812792C>T	ENST00000449082.2	-	4	576	c.577G>A	c.(577-579)Gat>Aat	p.D193N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					sensory perception	voltage-gated sodium channel complex		p.D193Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACGCTAAAATCCAGCCAGTTC	0.448000													26	61					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629785	47629785	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:47629785C>T	ENST00000546455.1	+	4	1670	c.939C>T	c.(937-939)ctC>ctT	p.L313L	PCED1B_ENST00000432328.1_Silent_p.L313L					PC-esterase domain containing 1B																		tgccgctgctcccgctcctgt	0.627000													25	65					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136196	92136196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:92136196G>A	ENST00000256343.3	-	14	1405	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	417					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.H417Y(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTCGGGGATGAAATACCATT	0.408000													24	11					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13636087	13636087	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:13636087G>A	ENST00000361306.1	+	8	1274	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	EGFL6_ENST00000380602.3_Missense_Mutation_p.M339I	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	339					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAGAGAAAATGAAAGAGGGGC	0.448000													18	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083224	9083224	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9083224G>A	ENST00000397910.4	-	1	8794	c.8591C>T	c.(8590-8592)tCt>tTt	p.S2864F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2864	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGAGGCAGAGACAGGTGT	0.527000													4	12					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76499039	76499039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76499039C>T	ENST00000389840.5	-	32	5123	c.4999G>A	c.(4999-5001)Gaa>Aaa	p.E1667K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1668K|DNAH17-AS1_ENST00000598378.1_3'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGGGATTTCGTGCCGGAGG	0.647000													13	65					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318664	30318664	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:30318664C>T	ENST00000375377.1	-	3	514	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	138										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGGGCCATTCCTCTGGCCTC	0.587000													39	115					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919293	51919293	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:51919293G>T	ENST00000353836.5	-	5	1104	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L295I|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L237I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L237I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L247I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L295I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.L212I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	295	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GACGAGGAGAGGACTCTGTTC	0.657000													6	12					0.0215528	0.0215699	1	1	0
TPH2	121278	broad.mit.edu	37	12	72366312	72366312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:72366312C>T	ENST00000333850.3	+	6	763	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	208					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAGCCCATTCCCAGGGTGGA	0.423000													87	140					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816459	38816459	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:38816459C>T	ENST00000476049.1	-	3	267	c.225_splice	c.e3-1	p.E76_splice	KRT222_ENST00000394052.3_Splice_Site_p.E76_splice			Q8N1A0	KT222_HUMAN	keratin 222	76						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGGCCCCTTTCCTGTTTTATA	0.383000													37	51					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064148	106064148	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:106064148G>A	ENST00000357242.5	+	3	457	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E95K|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.E95K|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E95K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	95						intracellular	calcium ion binding|Rab GTPase activator activity	p.E95K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGATTGGTTGGAACAAAATAT	0.313000													12	9					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650203	48650203	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48650203C>T	ENST00000352832.5	+	6	1407	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	CACNA1G_ENST00000503485.1_Silent_p.I345I|CACNA1G_ENST00000512389.1_Silent_p.I345I|CACNA1G_ENST00000514079.1_Silent_p.I345I|CACNA1G_ENST00000416767.4_Silent_p.I345I|CACNA1G_ENST00000507336.1_Silent_p.I345I|CACNA1G_ENST00000510366.1_Silent_p.I345I|CACNA1G_ENST00000510115.1_Silent_p.I345I|CACNA1G_ENST00000358244.5_Silent_p.I345I|CACNA1G_ENST00000507896.1_Silent_p.I345I|CACNA1G_ENST00000507510.2_Silent_p.I345I|CACNA1G_ENST00000502264.1_Silent_p.I345I|CACNA1G_ENST00000507609.1_Silent_p.I345I|CACNA1G_ENST00000359106.5_Silent_p.I345I|CACNA1G_ENST00000515411.1_Silent_p.I345I|CACNA1G_ENST00000505165.1_Silent_p.I345I|CACNA1G_ENST00000513964.1_Silent_p.I345I|CACNA1G_ENST00000515765.1_Silent_p.I345I|CACNA1G_ENST00000354983.4_Silent_p.I345I|CACNA1G_ENST00000442258.2_Silent_p.I345I|CACNA1G_ENST00000515165.1_Silent_p.I345I|CACNA1G_ENST00000514717.1_Silent_p.I345I|CACNA1G_ENST00000514181.1_Silent_p.I345I|CACNA1G_ENST00000429973.2_Silent_p.I345I|CACNA1G_ENST00000360761.4_Silent_p.I345I|CACNA1G_ENST00000513689.2_Silent_p.I345I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	345					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGCCTGGATCGCCATCTTCC	0.617000													9	62					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664914	19664914	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:19664914C>T	ENST00000328041.6	+	11	1193	c.996C>T	c.(994-996)atC>atT	p.I332I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	332						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCCTTCGAATCATGATAACCA	0.547000													20	14					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121219213	121219213	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121219213G>A	ENST00000297848.3	+	10	1341	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	COL14A1_ENST00000537875.1_Silent_p.T357T|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T262T|COL14A1_ENST00000309791.4_Silent_p.T357T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	357	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCCGCCTACGGAGTTGATTA	0.403000													8	12					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37006034	37006034	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:37006034A>T	ENST00000523638.1	-	3	1228	c.107T>A	c.(106-108)tTt>tAt	p.F36Y	ZNF260_ENST00000588993.1_Missense_Mutation_p.F36Y|ZNF260_ENST00000592282.1_Missense_Mutation_p.F36Y|ZNF260_ENST00000593142.1_Missense_Mutation_p.F36Y	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	36					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CTTCAGGCTAAAAGTTTTTCT	0.383000													9	36					0	0	1	0	0
STX6	10228	broad.mit.edu	37	1	180959154	180959154	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:180959154G>T	ENST00000258301.5	-	5	692	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	STX6_ENST00000542060.1_Missense_Mutation_p.S51Y	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	152					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						AATGAAATGAGAATTGGCTCT	0.557000													29	75					3.73148e-12	3.78556e-12	1	1	0
MICU1	10367	broad.mit.edu	37	10	74326545	74326545	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:74326545G>A	ENST00000398761.4	-	2	139	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	MICU1_ENST00000361114.5_Missense_Mutation_p.R3C|MICU1_ENST00000401998.3_Missense_Mutation_p.R3C|MICU1_ENST00000604025.1_5'UTR			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	3					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GAGTTCAGACGAAACATCCTG	0.433000													3	9					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350738	24350738	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:24350738G>A	ENST00000175238.6	+	16	1921	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G385E|ADAM7_ENST00000380789.1_Missense_Mutation_p.G613E	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	613	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTGGAGAGGGAATGGTAAGA	0.363000													3	13					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910931	23910931	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:23910931G>A	ENST00000382298.3	-	10	7672	c.7084C>T	c.(7084-7086)Cat>Tat	p.H2362Y	SACS_ENST00000402364.1_Missense_Mutation_p.H1612Y|SACS_ENST00000382292.3_Missense_Mutation_p.H2362Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2362					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATTTAAATGAAAAGAAACC	0.343000													6	21					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509663	72509663	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:72509663G>A	ENST00000373208.1	+	16	2358	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ADAMTS14_ENST00000373207.1_Silent_p.L783L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	783	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATGGGCCTGGAGTGGGAGG	0.642000													39	53					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136654407	136654407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136654407G>A	ENST00000371851.1	-	13	1557	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	VAV2_ENST00000406606.3_Missense_Mutation_p.S411F|VAV2_ENST00000371850.3_Missense_Mutation_p.S416F			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	416	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTGACTATGGACCGGACTTT	0.622000													85	72					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833622	168833622	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:168833622C>T	ENST00000464456.1	-	7	2674	c.1474G>A	c.(1474-1476)Ggg>Agg	p.G492R	MECOM_ENST00000433243.2_Missense_Mutation_p.G493R|MECOM_ENST00000460814.1_Missense_Mutation_p.G492R|MECOM_ENST00000472280.1_Missense_Mutation_p.G493R|MECOM_ENST00000392736.3_Missense_Mutation_p.G492R|MECOM_ENST00000468789.1_Missense_Mutation_p.G492R|MECOM_ENST00000264674.3_Missense_Mutation_p.G557R|MECOM_ENST00000494292.1_Missense_Mutation_p.G680R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTTGCAGCCCCACCAGTCCT	0.428000													18	68					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170187	113170187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113170187C>T	ENST00000401783.2	-	38	8029	c.7693G>A	c.(7693-7695)Ggt>Agt	p.G2565S	SVEP1_ENST00000374469.1_Missense_Mutation_p.G2542S|SVEP1_ENST00000297826.5_Missense_Mutation_p.G491S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2565	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTACAAAACCATTTTCAATG	0.488000													19	27					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832678	131832678	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:131832678C>T	ENST00000359827.3	-	27	5807	c.4845G>A	c.(4843-4845)agG>agA	p.R1615R	PLXNA4_ENST00000321063.4_Silent_p.R1615R			Q9HCM2	PLXA4_HUMAN	plexin A4	1615						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTGAGGTCCTGGAGACGG	0.537000													18	60					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53785517	53785517	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:53785517C>T	ENST00000370888.1	+	13	1651	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	458						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCAGTGCGATCCGATTTGTGG	0.453000													15	27					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17420171	17420171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17420171C>T	ENST00000375486.4	-	5	483	c.420G>A	c.(418-420)tgG>tgA	p.W140*	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Nonsense_Mutation_p.W140*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	140					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGCCCCAGGTCCAGGATGCCT	0.587000													14	45					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926532	1926532	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:1926532G>A	ENST00000399161.2	-	10	1756	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	MYT1L_ENST00000428368.2_Silent_p.L337L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	337					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCCTGGCCAGGTCGAAGCAC	0.557000													18	12					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548858	17548858	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:17548858C>T	ENST00000005226.7	-	5	407	c.408G>A	c.(406-408)cgG>cgA	p.R136R	USH1C_ENST00000318024.4_Silent_p.R136R|USH1C_ENST00000527720.1_Silent_p.R105R|USH1C_ENST00000527020.1_Silent_p.R136R	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	136	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATCCATTGATCCGGACGATCT	0.557000													15	35					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159029457	159029457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:159029457C>T	ENST00000367090.3	+	9	1188	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	393					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CGCCCTGCTGCTCTTCTGGCT	0.617000													31	51					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297195	44297195	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:44297195G>A	ENST00000329255.3	-	2	583	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	160					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTCACCCAGGGAGCTCTCTT	0.582000													5	27					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667749	106667749	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106667749C>T	ENST00000390606.2	-	0	244																											CCAGCCCCTTCCCTGGAGCTT	0.562000													41	85					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651324	96651324	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:96651324C>T	ENST00000302103.5	+	3	619	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	98					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACGGACCGTTCACTGTACAAC	0.488000													12	18					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33570325	33570325	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:33570325C>T	ENST00000262873.7	+	8	809	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	197	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTGCCATCGTCGCTGCCCTGG	0.567000													12	44					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990868	20990868	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:20990868C>T	ENST00000261383.3	-	50	7859	c.7859_splice	c.e50-1	p.E2620_splice	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2620	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGACACGACCCTGCCGAGGA	0.473000													13	18					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372711	24372711	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:24372711G>T	ENST00000005284.3	+	4	1677	c.475G>T	c.(475-477)Gcc>Tcc	p.A159S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TTATATATCAGCCAACGCCGG	0.443000													21	105					5.35356e-11	5.42459e-11	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83129167	83129167	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:83129167C>T	ENST00000329312.4	+	4	1488	c.1451C>T	c.(1450-1452)aCt>aTt	p.T484I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	484					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCAGAATCTACTGAAATGGAA	0.343000													4	1					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55386809	55386809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55386809C>T	ENST00000355524.3	+	2	68	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Nonsense_Mutation_p.Q20*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.Q20*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.Q20*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	20					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAGAGGATTCAGGCACAGGA	0.453000													31	60					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24807743	24807743	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:24807743C>T	ENST00000216274.5	-	4	720	c.502G>A	c.(502-504)Gga>Aga	p.G168R		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	168	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGTGAGCCTCCCTGAAATGTG	0.602000													40	51					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566451	127566451	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:127566451A>G	ENST00000373580.3	+	6	998	c.998A>G	c.(997-999)aAc>aGc	p.N333S	OLFML2A_ENST00000288815.5_Missense_Mutation_p.N119S	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	333										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCAGAGCCCAACTCCGCAGAG	0.652000													9	39					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83023623	83023623	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:83023623G>A	ENST00000307792.3	-	13	1957	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	SEMA3E_ENST00000427262.1_Missense_Mutation_p.S437F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	497	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCGCTTTGAAGAAATCTCCAT	0.323000													9	14					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108691661	108691661	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:108691661G>A	ENST00000361189.2	-	7	1958	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	PJA2_ENST00000361557.3_Silent_p.F573F	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	573	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TGTAGGTAAGGAACTGAGGAT	0.373000													30	40					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640083	7640083	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7640083C>T	ENST00000359156.4	-	8	2124	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	CD163_ENST00000541972.1_Missense_Mutation_p.G629E|CD163_ENST00000396620.3_Missense_Mutation_p.G674E|CD163_ENST00000432237.2_Missense_Mutation_p.G641E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	641	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGACCATTTCCTTTTCCAAA	0.478000													14	61					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399699	10399699	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10399699C>T	ENST00000226207.5	-	34	4918	c.4824G>A	c.(4822-4824)gaG>gaA	p.E1608E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1608						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						TGCTCCTGATCTCAGCATCCA	0.463000													67	41					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192273810	192273810	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:192273810C>T	ENST00000392318.3	+	26	2919	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	MYO1B_ENST00000439065.2_Missense_Mutation_p.S136F|MYO1B_ENST00000304164.4_Missense_Mutation_p.S891F|MYO1B_ENST00000392316.1_Missense_Mutation_p.S862F|MYO1B_ENST00000339514.4_Missense_Mutation_p.S833F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	891						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAGATGCCTTCCTTATCTCCA	0.363000													15	25					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79173560	79173560	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:79173560G>A	ENST00000269392.4	-	9	1229	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Missense_Mutation_p.R328W|AZI1_ENST00000450824.2_Missense_Mutation_p.R328W|AZI1_ENST00000374782.3_Missense_Mutation_p.R328W	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	328					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCTCCTCCCGGGCCTTCCTC	0.687000													62	63					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618428	175618428	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:175618428C>T	ENST00000348749.5	-	6	658	c.581G>A	c.(580-582)gGg>gAg	p.G194E	CHRNA1_ENST00000409323.1_Missense_Mutation_p.G194E|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.G112E|CHRNA1_ENST00000261007.5_Missense_Mutation_p.G219E|CHRNA1_ENST00000409219.1_Missense_Mutation_p.G194E	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	219					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CACCCACTCCCCGCTCTCCAT	0.587000													11	21					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47372994	47372994	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:47372994C>T	ENST00000399249.2	-	2	142	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E30K|MYBPC3_ENST00000545968.1_Missense_Mutation_p.E30K			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	30					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCGGCCTCGAACACGGCA	0.652000													8	6					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562836	125562836	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:125562836G>A	ENST00000277309.2	+	1	467	c.435G>A	c.(433-435)ctG>ctA	p.L145L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCGCAGCCCTGGTGGGAATGG	0.617000													8	53					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38321817	38321817	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:38321817C>T	ENST00000215957.6	+	8	1358	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	411	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GAGGAGGTGGCCCAGCCGAGC	0.642000													10	27					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496380	5496380	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:5496380C>T	ENST00000355029.4	+	9	1063	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NET1_ENST00000542715.1_Silent_p.F126F|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Silent_p.F253F	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	307	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTGGAGTTTCCTAGATATCC	0.433000													7	12					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099425	4099425	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:4099425G>A	ENST00000380175.4	+	3	1042	c.277G>A	c.(277-279)Gtt>Att	p.V93I	C6orf201_ENST00000333388.5_Missense_Mutation_p.V96I|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000430835.2_Missense_Mutation_p.V93I	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	93										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTCCACCATAGTTGTCAGGTA	0.393000													11	52					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31669487	31669487	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:31669487C>T	ENST00000331728.4	+	14	1722	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	LIMK2_ENST00000444929.2_Silent_p.L290L|LIMK2_ENST00000406516.1_Silent_p.L458L|LIMK2_ENST00000340552.4_Silent_p.L515L|LIMK2_ENST00000333611.4_Silent_p.L515L|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	536	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGATCGTTCTCTGTGAGGTGA	0.552000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075216	113075216	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:113075216G>A	ENST00000316851.7	+	2	306	c.306G>A	c.(304-306)gtG>gtA	p.V102V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.V111V|NCAM1_ENST00000533760.1_5'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	112	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCGTCAACGTGAAGATCTTTC	0.522000													9	11					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53205639	53205639	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53205639C>T	ENST00000293774.4	-	2	1077	c.807G>A	c.(805-807)ctG>ctA	p.L269L	KRT4_ENST00000458244.2_Silent_p.L175L|KRT4_ENST00000551956.1_Silent_p.L195L			B4DRS2	B4DRS2_HUMAN	keratin 4	195						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGCTTCCTCAGGACACTGA	0.537000													24	30					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38355378	38355378	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:38355378G>A	ENST00000373023.2	-	9	981	c.888C>T	c.(886-888)tcC>tcT	p.S296S	INPP5B_ENST00000373024.3_Silent_p.S216S|INPP5B_ENST00000373026.1_Silent_p.S296S|INPP5B_ENST00000373027.1_Silent_p.S52S	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	296					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGTAATTTCGGACTTGGATT	0.388000													25	107					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180756944	180756944	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:180756944C>T	ENST00000367590.4	+	3	375	c.177C>T	c.(175-177)ttC>ttT	p.F59F	XPR1_ENST00000367589.3_Silent_p.F59F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	59	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGAAGTTTTTCCAAACCTGTG	0.343000													22	88					0	0	1	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078521	107078521	+	RNA	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:107078521C>T	ENST00000390628.2	-	0	263																											GACGATCCATCCTATCCACTC	0.522000													34	24					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163512	167163512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:167163512G>A	ENST00000375387.4	-	3	671	c.331C>T	c.(331-333)Cct>Tct	p.P111S	SCN9A_ENST00000303354.6_Missense_Mutation_p.P111S|SCN9A_ENST00000409435.1_Missense_Mutation_p.P111S|SCN9A_ENST00000409672.1_Missense_Mutation_p.P111S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	111						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGACTGAAAGGAGAAAGCATA	0.333000													13	5					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242098640	242098640	+	Missense_Mutation	SNP	C	C	T	rs146512636	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:242098640C>T	ENST00000234038.6	+	5	790	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000407025.1_Missense_Mutation_p.R106C|PPP1R7_ENST00000406106.3_Missense_Mutation_p.R106C|PPP1R7_ENST00000272983.8_Missense_Mutation_p.R63C|PPP1R7_ENST00000401987.1_Missense_Mutation_p.R63C|PPP1R7_ENST00000402734.1_Missense_Mutation_p.R47C|PPP1R7_ENST00000404405.3_Missense_Mutation_p.R100C	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	106						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCTCTGCCTCCGCCAAAATTT	0.493000													135	82					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594499	195594499	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:195594499G>A	ENST00000333602.6	-	12	3242	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	TNK2_ENST00000428187.1_Silent_p.F907F|TNK2_ENST00000392400.1_Silent_p.F875F|TNK2_ENST00000381916.2_Silent_p.F953F	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	875	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTCACGCAGGAAGCGCTGGT	0.697000													12	33					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43861598	43861598	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:43861598A>G	ENST00000278353.4	+	9	787	c.668A>G	c.(667-669)aAg>aGg	p.K223R	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	223					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						TATAGGAGCAAGGGCGTCTTT	0.443000													20	33					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965087	42965087	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:42965087G>A	ENST00000399770.2	+	2	563	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	188	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTAGACGAACGATGCCGACGA	0.418000													170	183					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035878	37035878	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:37035878C>T	ENST00000379242.3	+	15	1955	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	VIT_ENST00000389975.3_Silent_p.A536A|VIT_ENST00000497382.1_Silent_p.A205A|VIT_ENST00000404084.1_Silent_p.A488A|VIT_ENST00000379241.3_Silent_p.A514A|VIT_ENST00000401530.1_Silent_p.A515A	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	536	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCATCGGGGCCGTGCAGTACA	0.582000													17	31					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65046208	65046208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:65046208C>T	ENST00000265465.3	+	6	1000	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	157	Pro/Ser/Thr-rich.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TAGTGCTACTCCCTCCCAGAA	0.448000													41	97					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681241	36681241	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:36681241G>A	ENST00000216181.5	-	38	5639	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1803					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGTACTTGGACTTGACAG	0.607000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				28	47					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990741	21990741	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:21990741G>A	ENST00000594012.1	-	7	2594	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y	ZNF43_ENST00000598381.1_Missense_Mutation_p.H694Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H694Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H700Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTATGAATAATCTTA	0.353000													7	20					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372603	151372603	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:151372603G>A	ENST00000287878.4	-	4	1091	c.587C>T	c.(586-588)tCc>tTc	p.S196F	PRKAG2_ENST00000492843.1_Missense_Mutation_p.S72F|PRKAG2_ENST00000392801.2_Missense_Mutation_p.S152F|PRKAG2_ENST00000433631.2_Missense_Mutation_p.S72F	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	196					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GTCCGGGGGGGAAGACGAGGC	0.587000													37	44					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227862	30227862	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:30227862G>A	ENST00000376075.3	+	3	284	c.209G>A	c.(208-210)gGa>gAa	p.G70E	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	70					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGGAGAAGGGAAGCTGGACC	0.587000													16	21					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25026467	25026467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:25026467G>A	ENST00000382114.4	-	4	573	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	130						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CGGAGGCCACGAAAGGCATTT	0.378000													11	33					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785918	10785918	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:10785918C>A	ENST00000361367.2	+	11	1774	c.1348C>A	c.(1348-1350)Cct>Act	p.P450T		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	450					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCCGATGTTCCTCCAGAGAT	0.433000													40	49					8.20599e-20	8.37888e-20	1	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51628527	51628527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:51628527C>T	ENST00000440804.3	+	1	363	c.296C>T	c.(295-297)aCc>aTc	p.T99I	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T99I	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	99	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACCCACATACCAAGAATTGC	0.502000													24	43					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome				37	155					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734705	92734705	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92734705G>A	ENST00000379958.2	-	3	975	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	236						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCCAAAATGAATAGTGCCA	0.393000													49	113					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890381	229890381	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:229890381C>T	ENST00000392054.3	-	4	1053	c.714G>A	c.(712-714)gaG>gaA	p.E238E	PID1_ENST00000354069.6_Silent_p.E240E|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Silent_p.E158E|PID1_ENST00000392055.3_Silent_p.E207E	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	240	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTGGGAAACCTCTTCGGAGG	0.522000													16	49					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70030056	70030056	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:70030056G>A	ENST00000532298.1	-	1	35	c.36C>T	c.(34-36)ttC>ttT	p.F12F	RP11-419C5.2_ENST00000325845.7_5'UTR|PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						CATGGGACAGGAACTGTGGGG	0.507000													3	8					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599849	45599849	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45599849G>A	ENST00000336156.4	-	6	599	c.534C>T	c.(532-534)acC>acT	p.T178T	KIAA0930_ENST00000391627.2_Silent_p.T144T|KIAA0930_ENST00000443310.3_Silent_p.T160T|KIAA0930_ENST00000251993.7_Silent_p.T183T	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	178							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTTCCCCTACGGTCATGTCGC	0.612000													18	80					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581130	7581130	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:7581130G>A	ENST00000379802.3	+	23	5048	c.4707G>A	c.(4705-4707)caG>caA	p.Q1569Q	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1569	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCAGCTGCAGAAGCAGAAGG	0.547000													49	62					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830542	7830542	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:7830542C>T	ENST00000327325.5	+	4	351	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CLEC4M_ENST00000596707.1_Missense_Mutation_p.S57F|CLEC4M_ENST00000596363.1_Missense_Mutation_p.S50F|CLEC4M_ENST00000334806.5_Missense_Mutation_p.S50F|CLEC4M_ENST00000357361.2_Missense_Mutation_p.S78F|CLEC4M_ENST00000597522.1_Missense_Mutation_p.S78F|CLEC4M_ENST00000394122.2_Missense_Mutation_p.S66F|CLEC4M_ENST00000248228.4_Missense_Mutation_p.S78F|CLEC4M_ENST00000595496.1_Missense_Mutation_p.S57F|CLEC4M_ENST00000359059.5_Missense_Mutation_p.S57F	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	78					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTCCCCAGCTCCCTAAGTCAG	0.507000													29	34					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109325077	109325077	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:109325077C>T	ENST00000370008.3	+	10	893	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	281					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AGGAGGCCATCCTTGAAGAAG	0.323000													13	52					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216925	27216925	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27216925C>T	ENST00000230582.3	+	4	399	c.384C>T	c.(382-384)agC>agT	p.S128S	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	128					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGTGATAAGCCTGGAACACA	0.592000													46	72					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167835	185167835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:185167835G>A	ENST00000265026.3	+	6	1492	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	MAP3K13_ENST00000446828.1_Missense_Mutation_p.M179I|MAP3K13_ENST00000535426.1_Missense_Mutation_p.M242I|MAP3K13_ENST00000424227.1_Missense_Mutation_p.M386I|MAP3K13_ENST00000443863.1_Missense_Mutation_p.M242I	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	386	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAATCCTTATGAAACAGACGT	0.418000													13	52					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136729059	136729059	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:136729059C>T	ENST00000329582.4	+	7	1179	c.930C>T	c.(928-930)atC>atT	p.I310I	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	310						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGGCCTGGATCTCATAGGTTT	0.547000													16	38					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70525792	70525792	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:70525792C>T	ENST00000265872.6	+	17	2373	c.2254C>T	c.(2254-2256)Cta>Tta	p.L752L	CCAR1_ENST00000543719.1_Silent_p.L737L|CCAR1_ENST00000535016.1_Silent_p.L737L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	752	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTGAGTGTCCTATTGGACTA	0.348000													12	51					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797776	76797776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:76797776C>T	ENST00000286719.7	-	11	1340	c.984G>A	c.(982-984)atG>atA	p.M328I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	328	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTCTCCTCCATCTGCTTCT	0.522000													13	37					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194373795	194373795	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:194373795G>A	ENST00000265245.5	-	8	1150	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	279					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TTCACTGTGGGAAATTTCAGC	0.443000													28	78					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100426	110100426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:110100426G>T	ENST00000518632.1	+	2	1036	c.685G>T	c.(685-687)Gaa>Taa	p.E229*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.E229*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	229						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.E229*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGATCCTAAAGAAAACTCTAA	0.368000													10	31					7.48243e-07	7.54229e-07	1	1	0
DPPA2	151871	broad.mit.edu	37	3	109028157	109028157	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:109028157C>T	ENST00000478945.1	-	4	448	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	68						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATTGCTCATTTGTTTGA	0.383000													22	59					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239656	1239656	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:1239656T>C	ENST00000324642.3	+	6	947	c.824T>C	c.(823-825)tTt>tCt	p.F275S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F270S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	275					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACATCGCTTTTGCAAGTTAC	0.577000													17	84					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552648	18552648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:18552648G>A	ENST00000433979.1	+	15	2175	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E687K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E728K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	687					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCAATAATGAAAACTGCTC	0.388000													8	34					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132534888	132534888	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:132534888C>T	ENST00000333577.4	+	41	7438	c.7329C>T	c.(7327-7329)ctC>ctT	p.L2443L	EP400_ENST00000332482.4_Silent_p.L2370L|EP400_ENST00000330386.6_Silent_p.L2326L|EP400_ENST00000389561.2_Silent_p.L2407L|EP400_ENST00000389562.2_Silent_p.L2406L			Q96L91	EP400_HUMAN	E1A binding protein p400	2443					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)		ACCGTCCTCTCCGTACGAGCC	0.517000													11	47					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89805055	89805055	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:89805055T>A	ENST00000310775.7	+	6	535	c.449T>A	c.(448-450)gTa>gAa	p.V150E	FANCI_ENST00000567996.1_Missense_Mutation_p.V150E|FANCI_ENST00000300027.8_Missense_Mutation_p.V150E|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	150					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTTCTAGGTGTACTGAGTGGG	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				114	61					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66920894	66920894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:66920894G>A	ENST00000269080.2	-	10	1527	c.1390C>T	c.(1390-1392)Cat>Tat	p.H464Y	ABCA8_ENST00000430352.2_Missense_Mutation_p.H464Y|ABCA8_ENST00000586539.1_Missense_Mutation_p.H464Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	464						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGAGTCATGAAATGAAGGA	0.458000													21	112					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420788	8420788	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:8420788G>A	ENST00000337907.3	-	19	3413	c.2779C>T	c.(2779-2781)Cac>Tac	p.H927Y	RERE_ENST00000476556.1_Missense_Mutation_p.H373Y|RERE_ENST00000377464.1_Missense_Mutation_p.H659Y|RERE_ENST00000400908.2_Missense_Mutation_p.H927Y|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	927	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCTTGATGTGGGGCATGGCC	0.692000													12	31					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145290446	145290446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145290446C>T	ENST00000344859.3	+	5	1014	c.652C>T	c.(652-654)Cct>Tct	p.P218S	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0	EGF-like 6.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCCAATCTTTCCTAAGCTGCT	0.373000													8	180					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79565452	79565452	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:79565452A>G	ENST00000372391.2	-	27	5140	c.5135T>C	c.(5134-5136)tTt>tCt	p.F1712S	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.F1372S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1712					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTCACTGGAAAAGGCATCCAA	0.567000													30	33					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090685	22090685	+	RNA	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22090685G>A	ENST00000542354.1	+	0	357																											AGCTCCAGATGAAAGACTCTG	0.458000													16	8					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170828502	170828502	+	Splice_Site	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:170828502C>T	ENST00000436636.2	-	19	2629		c.e19+1		TNIK_ENST00000369326.5_Splice_Site|TNIK_ENST00000357327.5_Splice_Site|TNIK_ENST00000475336.1_Splice_Site|TNIK_ENST00000470834.1_Splice_Site|TNIK_ENST00000488470.1_Splice_Site|TNIK_ENST00000341852.6_Splice_Site|TNIK_ENST00000284483.8_Splice_Site|TNIK_ENST00000538048.1_Splice_Site|TNIK_ENST00000460047.1_Splice_Site	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase						actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAAAGTTTTACCTCGAACTCT	0.547000													2	1					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924424	188924424	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:188924424G>A	ENST00000326866.4	+	4	871	c.463G>A	c.(463-465)Gga>Aga	p.G155R	ZFP42_ENST00000509524.1_Missense_Mutation_p.G155R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	155					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCTTCCGCCTGGAGGAATACC	0.423000													37	62					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825609	196825609	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196825609G>A	ENST00000312428.6	-	18	2366	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	756	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTTTTTACGTTGAGGATAT	0.368000													37	14					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703941	113703941	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113703941C>T	ENST00000374431.3	-	4	936	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	LPAR1_ENST00000541779.1_Missense_Mutation_p.G186S|LPAR1_ENST00000358883.4_Missense_Mutation_p.G185S|LPAR1_ENST00000538760.1_Missense_Mutation_p.G186S|LPAR1_ENST00000374430.2_Missense_Mutation_p.G185S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	185					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTTCCAGCCCACACTGGGT	0.502000													42	55					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664681	123664681	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:123664681T>C	ENST00000542236.1	+	3	2015	c.1634T>C	c.(1633-1635)tTg>tCg	p.L545S	BBS12_ENST00000314218.3_Missense_Mutation_p.L545S	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	545					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GTTGAATTTTTGTGTCTTAGC	0.418000									Bardet-Biedl syndrome				28	50					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967632	4967632	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4967632C>T	ENST00000380373.2	-	1	724	c.699G>A	c.(697-699)aaG>aaA	p.K233K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233N(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGCTGCTCCTTTTTGGATG	0.468000													9	30					0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20471158	20471158	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:20471158G>A	ENST00000375102.3	+	4	502	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	91					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TCACACCATCGAGAACAACAC	0.592000													4	8					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524858	26524858	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:26524858C>G	ENST00000456354.2	+	6	827	c.760C>G	c.(760-762)Ctc>Gtc	p.L254V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACACCCTCTTCATCTG	0.527000													26	227					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423566	56423566	+	Silent	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:56423566G>A	ENST00000588751.1	-	5	1641	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	NLRP13_ENST00000342929.3_Silent_p.F539F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	539	NACHT.						ATP binding	p.F539F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAAACTCCTGGAAACTTAGGT	0.453000													19	39					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481595	140481595	+	Silent	SNP	C	C	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140481595C>T	ENST00000231130.2	+	1	1362	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		454					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCCAAATCTCCTACACCC	0.582000													32	139					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167330398	167330398	+	Splice_Site	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:167330398G>A	ENST00000409855.1	-	4	480	c.353_splice	c.e4-1	p.P118_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	118					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTGGAAAAAGGTAGCTTATA	0.259000													10	19					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845334	107845334	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:107845334G>A	ENST00000285311.3	-	4	1262	c.557C>T	c.(556-558)tCa>tTa	p.S186L	DKK2_ENST00000513208.1_Missense_Mutation_p.S86L|DKK2_ENST00000510463.1_Missense_Mutation_p.S140L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	186	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGTCTGATGATCGTAGGCA	0.453000													6	24					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179251823	179251828	+	In_Frame_Del	DEL	ATGGAA	ATGGAA	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179251823_179251828delATGGAA	ENST00000190611.4	+	20	2489_2494	c.2113_2118delATGGAA	c.(2113-2118)del	p.ME705del	OSBPL6_ENST00000409045.3_In_Frame_Del_p.ME674del|OSBPL6_ENST00000392505.2_In_Frame_Del_p.ME730del|OSBPL6_ENST00000359685.3_In_Frame_Del_p.ME669del|OSBPL6_ENST00000315022.2_In_Frame_Del_p.ME709del|OSBPL6_ENST00000409631.1_In_Frame_Del_p.ME669del	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	705					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGGGAAGTCGATGGAAATCCTGCCTG	0.403													5	7	---	---	---	---					
USP17L17	100287327	broad.mit.edu	37	4	9245880	9245880	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:9245880delC	ENST00000511568.1	+	1	276	c.276delC	c.(274-276)aafs	p.N92fs		NM_001256857.1	NP_001243786.1			ubiquitin specific peptidase 17-like family member 17																		GCTACGTGAACGCTTCCTTGC	0.572													2	4	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479817	142479817	+	RNA	DEL	G	G	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142479817delG	ENST00000603901.1	+	0	40					NR_001296.3																						TGCTTGTTAAGGATTTCTAAC	0.557													9	58	---	---	---	---					
PHYHIPL	84457	broad.mit.edu	37	10	60998422	60998423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:60998422_60998423insT	ENST00000373880.4	+	4	817_818	c.553_554insT	c.(553-555)tttfs	p.F185fs	PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Frame_Shift_Ins_p.F159fs	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	185										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGTTTTCTGTTTTTTATCGT	0.312													16	60	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													4	5	---	---	---	---					
DNM1P46	196968	broad.mit.edu	37	15	100332359	100332359	+	RNA	DEL	G	G	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:100332359delG	ENST00000341853.1	-	0	1832					NR_003260.1																						GGGCAGGGGTGGGTGTTGCTG	0.612													21	98	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													5	5	---	---	---	---					
PKNOX1	5316	broad.mit.edu	37	21	44427659	44427677	+	Frame_Shift_Del	DEL	CAGAAGGAGTGAGCCCTCC	CAGAAGGAGTGAGCCCTCC	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:44427659_44427677delCAGAAGGAGTGAGCCCTCC	ENST00000291547.5	+	3	321_339	c.110_128delCAGAAGGAGTGAGCCCTCC	c.(109-129)gcfs	p.AEGVSPP37fs	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	37							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAACCCGATGCAGAAGGAGTGAGCCCTCCCCCTGTGGAG	0.507													11	119	---	---	---	---