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
AFF2	2334	broad.mit.edu	37	X	148037568	148037568	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:148037568G>C	ENST00000370460.2	+	11	2472	c.1993G>C	c.(1993-1995)Gac>Cac	p.D665H	AFF2_ENST00000342251.3_Missense_Mutation_p.D632H|AFF2_ENST00000286437.5_Missense_Mutation_p.D306H|AFF2_ENST00000370457.5_Missense_Mutation_p.D632H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	665					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCTTCATGACCCACCAAG	0.488000													56	45					0	0	0.870114	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378920	142378920	+	RNA	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:142378920A>C	ENST00000390398.3	+	0	225																											ATGGAACTACACCTCATCCAC	0.443000													47	115					0	0	0.870114	0	0
COL3A1	1281	broad.mit.edu	37	2	189852852	189852852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:189852852G>T	ENST00000304636.3	+	6	744	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G192C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	192	Triple-helical region.		G -> V (in EDS4).		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			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)	TGGTCATCCTGGTTCCCCTGT	0.398000													39	100					4.90776e-07	5.61036e-07	0.870114	1	0
ZNF579	163033	broad.mit.edu	37	19	56090061	56090061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:56090061C>A	ENST00000325421.4	-	2	973	c.945G>T	c.(943-945)caG>caT	p.Q315H		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CGCGGCGGTGCTGGCGGAGGT	0.736000													3	22					1.024e-07	1.18069e-07	0.184627	1	0
OR51V1	283111	broad.mit.edu	37	11	5221655	5221655	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5221655C>T	ENST00000321255.1	-	1	275	c.276G>A	c.(274-276)ggG>ggA	p.G92G		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGGATCCCCAGCACTG	0.547000													25	58					0	0	0.706142	0	0
SYNE1	23345	broad.mit.edu	37	6	152469434	152469434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152469434T>A	ENST00000367255.5	-	137	25323	c.24722A>T	c.(24721-24723)cAc>cTc	p.H8241L	SYNE1_ENST00000423061.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2765L|SYNE1_ENST00000539504.1_Missense_Mutation_p.H396L|SYNE1_ENST00000354674.4_Missense_Mutation_p.H396L|SYNE1_ENST00000448038.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7853L|SYNE1_ENST00000265368.4_Missense_Mutation_p.H8241L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8241					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)		AGAGCGGTCGTGCCAGTGCAG	0.617000										HNSCC(10;0.0054)			32	75					0	0	0.870114	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542750	26542750	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:26542750G>C	ENST00000381655.2	+	35	3452	c.3310G>C	c.(3310-3312)Gtg>Ctg	p.V1104L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V1039L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1064					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTGGAGGAGGTGCAGGAGCT	0.522000													6	11					0	0	0.307466	0	0
LINC00886	730091	broad.mit.edu	37	3	156527457	156527457	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:156527457C>A	ENST00000472943.1	-	0	148					NR_038387.1																						GGAGGAGGGCCTTTAGCTCTG	0.522000													19	40					2.35188e-11	2.85967e-11	0.539581	1	0
SLC8A3	6547	broad.mit.edu	37	14	70633591	70633591	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:70633591A>G	ENST00000381269.2	-	2	2302	c.1549T>C	c.(1549-1551)Tgt>Cgt	p.C517R	SLC8A3_ENST00000528359.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.C517R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.C517R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	517					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGCCACACAAGGGGAGGCT	0.502000													27	65					0	0	0.717897	0	0
DNAH5	1767	broad.mit.edu	37	5	13735314	13735314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13735314G>A	ENST00000265104.4	-	68	11791	c.11687C>T	c.(11686-11688)aCc>aTc	p.T3896I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3896					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)					AAGCAACAAGGTGAACAGGAA	0.418000									Kartagener syndrome				38	90					0	0	0.827153	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685548	31685548	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31685548C>A	ENST00000375483.3	+	11	1524	c.1524C>A	c.(1522-1524)gtC>gtA	p.V508V		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	508						cytoplasm|extracellular region	lipid binding										AGGTCATGGTCTCCCAGCCCA	0.572000													34	52					2.08457e-15	2.69383e-15	0.750413	1	0
TSNARE1	203062	broad.mit.edu	37	8	143381940	143381940	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:143381940C>A	ENST00000519651.1	-	8	643	c.540G>T	c.(538-540)atG>atT	p.M180I	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.M399I|TSNARE1_ENST00000520166.1_Missense_Mutation_p.M399I|TSNARE1_ENST00000524325.1_Missense_Mutation_p.M398I			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	399					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTGCCACATGTTGTCAC	0.607000													15	163					2.62699e-14	3.33833e-14	0.479597	1	0
AGO1	26523	broad.mit.edu	37	1	36379547	36379547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:36379547C>T	ENST00000373204.4	+	13	1900	c.1687C>T	c.(1687-1689)Ctc>Ttc	p.L563F	AGO1_ENST00000373206.1_Missense_Mutation_p.L488F	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CAACCTCTGCCTCAAGATCAA	0.507000													62	117					0	0	0.870114	0	0
MST1R	4486	broad.mit.edu	37	3	49935550	49935550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49935550C>A	ENST00000296474.3	-	5	1841	c.1814G>T	c.(1813-1815)gGa>gTa	p.G605V	MST1R_ENST00000344206.4_Missense_Mutation_p.G605V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	605	IPT/TIG 1.				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)		CTGATGGGTTCCCTCAGGCAC	0.577000													26	63					1.33986e-20	1.9014e-20	0.681144	1	0
ZNF257	113835	broad.mit.edu	37	19	22271667	22271667	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22271667A>T	ENST00000594947.1	+	4	1259	c.1115A>T	c.(1114-1116)tAc>tTc	p.Y372F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAAACCCTACAAATGTGAA	0.383000													12	38					0	0	0.411799	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566376	56566376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:56566376G>A	ENST00000394023.3	-	19	1961	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.P619L|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P619L|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P588L|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	588	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TACCTTGGAGGGAACATTCTT	0.502000													46	100					0	0	0.859065	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464725	37464725	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:37464725C>A	ENST00000299824.1	+	2	346	c.157C>A	c.(157-159)Cgg>Agg	p.R53R	PPP1R16B_ENST00000373331.2_Silent_p.R53R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	53					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGCATGAGCGGAAGCGCAG	0.677000													13	22					4.3838e-07	5.02213e-07	0.435327	1	0
ZNF835	90485	broad.mit.edu	37	19	57176560	57176560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:57176560C>A	ENST00000537055.2	-	2	238	c.7G>T	c.(7-9)Gga>Tga	p.G3*		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCAAGAGTCCCTCCATCCTC	0.498000													16	57					2.35188e-11	2.85967e-11	0.539581	1	0
ZEB1	6935	broad.mit.edu	37	10	31816121	31816121	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:31816121G>T	ENST00000446923.2	+	9	3647	c.3256G>T	c.(3256-3258)Gca>Tca	p.A1086S	ZEB1_ENST00000320985.10_Missense_Mutation_p.A1102S|ZEB1_ENST00000560721.2_Missense_Mutation_p.A1082S|ZEB1_ENST00000542815.3_Missense_Mutation_p.A1035S|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1103S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1102	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAAAGTCAAGCAAGCAGCTT	0.418000													16	25					1.33834e-09	1.57711e-09	0.557998	1	0
PTPRT	11122	broad.mit.edu	37	20	41419980	41419980	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41419980C>A	ENST00000373198.3	-	3	576	c.341G>T	c.(340-342)aGg>aTg	p.R114M	PTPRT_ENST00000373187.1_Missense_Mutation_p.R114M|PTPRT_ENST00000356100.2_Missense_Mutation_p.R114M|PTPRT_ENST00000373201.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373190.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373184.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373193.3_Missense_Mutation_p.R114M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	114	MAM.				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	p.R114K(1)		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)				TGGGCTGGACCTGTCACGGCT	0.602000													27	69					9.78306e-22	1.40697e-21	0.740014	1	0
FCRL3	115352	broad.mit.edu	37	1	157659649	157659649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:157659649G>T	ENST00000368184.3	-	10	2040	c.1749C>A	c.(1747-1749)agC>agA	p.S583R	FCRL3_ENST00000368186.5_Missense_Mutation_p.S583R|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	583						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGACGAGGATGCTGAGCACCA	0.572000													13	45					0.0135373	0.0139816	0.411799	1	0
PPM1K	152926	broad.mit.edu	37	4	89199527	89199527	+	Missense_Mutation	SNP	C	C	T	rs146041562		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:89199527C>T	ENST00000295908.6	-	2	598	c.209G>A	c.(208-210)cGc>cAc	p.R70H	PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.R70H|PPM1K_ENST00000315194.4_Missense_Mutation_p.R70H	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	70					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CTCATCAATGCGGTTATCCCA	0.512000													30	25					0	0	0.706142	0	0
MROH2B	133558	broad.mit.edu	37	5	41004450	41004450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41004450C>A	ENST00000399564.4	-	37	4642	c.4192G>T	c.(4192-4194)Gat>Tat	p.D1398Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.D953Y	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCACTTACATCTTCAAAGAAG	0.458000													62	109					6.56249e-45	1.08029e-44	0.870114	1	0
COL5A3	50509	broad.mit.edu	37	19	10078024	10078024	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:10078024G>T	ENST00000264828.3	-	62	4542	c.4458_splice	c.e62+1	p.P1486_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1486	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)			GGAACTCACCGGGGGGCCTGG	0.642000													3	6					0.115264	0.117684	0.115264	1	0
RYR2	6262	broad.mit.edu	37	1	237969512	237969512	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:237969512C>A	ENST00000366574.2	+	99	14544	c.14227C>A	c.(14227-14229)Ctt>Att	p.L4743I	RYR2_ENST00000542537.1_Missense_Mutation_p.L4727I|RYR2_ENST00000360064.6_Missense_Mutation_p.L4749I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCGCTCACCTTCTCGACAT	0.413000													16	55					2.32078e-09	2.72285e-09	0.479597	1	0
BCOR	54880	broad.mit.edu	37	X	39933957	39933957	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:39933957T>A	ENST00000342274.4	-	4	1004	c.642A>T	c.(640-642)tcA>tcT	p.S214S	BCOR_ENST00000378444.4_Silent_p.S214S|BCOR_ENST00000397354.3_Silent_p.S214S|BCOR_ENST00000378455.4_Silent_p.S214S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	214					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATGTTCAGTGAATACTTAT	0.542000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						55	22					0	0	0.870114	0	0
CNTN4	152330	broad.mit.edu	37	3	3067852	3067852	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:3067852C>A	ENST00000397461.1	+	14	1937	c.1553C>A	c.(1552-1554)cCg>cAg	p.P518Q	CNTN4_ENST00000448906.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.P518Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.P299Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.P518Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	518	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)		ATTGTTTTACCGTGCCAGGTA	0.423000													22	59					7.41877e-09	8.66683e-09	0.608945	1	0
SLC2A3	6515	broad.mit.edu	37	12	8083212	8083212	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:8083212C>A	ENST00000075120.7	-	5	777	c.537G>T	c.(535-537)ggG>ggT	p.G179G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	179					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCTCTTCAGACCCAAGGATGA	0.433000													25	92					1.64293e-13	2.05367e-13	0.654019	1	0
POLE	5426	broad.mit.edu	37	12	133212601	133212601	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:133212601T>C	ENST00000320574.5	-	42	5731	c.5688A>G	c.(5686-5688)tcA>tcG	p.S1896S	POLE_ENST00000535270.1_Silent_p.S1869S|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1896					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGTCTCCTTTGAATGGATGC	0.428000								DNA polymerases (catalytic subunits)					25	57					0	0	0.729181	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673091	22673091	+	RNA	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22673091C>T	ENST00000390289.2	+	0	10				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TCCACCATGGCCTGGACTCTT	0.572000													4	2					0	0	0.150653	0	0
XIRP2	129446	broad.mit.edu	37	2	168101077	168101077	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168101077T>A	ENST00000409195.1	+	9	3264	c.3175T>A	c.(3175-3177)Ttt>Att	p.F1059I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F837I|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1059I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	884					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAATGGTTGTTTGAAACCCA	0.318000													21	39					0	0	0.575678	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173																											TTTTCTCTTCGGTGAGTAATC	0.388000													3	25					0	0	0.115264	0	0
CARD6	84674	broad.mit.edu	37	5	40853333	40853333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:40853333G>A	ENST00000254691.5	+	3	2098	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	633					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGGAAGTGATGTTCTCTTCTT	0.522000													11	278					0	0	0.457914	0	0
NDOR1	27158	broad.mit.edu	37	9	140108321	140108321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:140108321A>G	ENST00000371521.4	+	4	484	c.401A>G	c.(400-402)cAt>cGt	p.H134R	NDOR1_ENST00000344894.5_Missense_Mutation_p.H134R|NDOR1_ENST00000427047.2_Missense_Mutation_p.H134R|NDOR1_ENST00000458322.2_Missense_Mutation_p.H134R	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	134	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GATGACCAGCATGAGCTGGGG	0.677000													17	10					0	0	0.557998	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411998	105411998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105411998C>A	ENST00000333244.5	-	7	9909	c.9790G>T	c.(9790-9792)Gcc>Tcc	p.A3264S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3264						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCGGGGGCCGTCACATCC	0.627000													75	140					2.5377e-55	4.25601e-55	0.870114	1	0
DNAJA3	9093	broad.mit.edu	37	16	4475952	4475952	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:4475952G>T	ENST00000262375.6	+	1	147	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	DNAJA3_ENST00000355296.4_Missense_Mutation_p.G24C|DNAJA3_ENST00000431375.2_5'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	24					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GGCTATATCGGGTAGAGGGGC	0.726000													3	2					0.150653	0.153523	0.150653	1	0
TYR	7299	broad.mit.edu	37	11	88911460	88911460	+	Silent	SNP	A	A	C	rs61753255		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:88911460A>C	ENST00000263321.5	+	1	841	c.339A>C	c.(337-339)acA>acC	p.T113T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	113					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAAACTGCACAGAGAGACGAC	0.463000													27	39					0	0	0.667858	0	0
SLC25A12	8604	broad.mit.edu	37	2	172669945	172669945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:172669945C>A	ENST00000422440.2	-	11	1112	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G252C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	359					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGCCAGAGCCACGCTGGTTT	0.443000													52	166					6.9144e-35	1.08164e-34	0.870114	1	0
XKR9	389668	broad.mit.edu	37	8	71646336	71646336	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:71646336G>T	ENST00000408926.3	+	5	1333	c.799G>T	c.(799-801)Gtt>Ttt	p.V267F	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V267F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	267						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TAGGATTGTTGTTGGATTCAT	0.313000													52	61					2.27781e-18	3.06188e-18	0.870114	1	0
TRIM43	129868	broad.mit.edu	37	2	96260164	96260164	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:96260164G>T	ENST00000272395.2	+	2	529	c.393G>T	c.(391-393)gaG>gaT	p.E131D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	131						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCGAAGAGGCAGCTGAGG	0.488000													34	76					5.43694e-19	7.45836e-19	0.812448	1	0
CACNA2D1	781	broad.mit.edu	37	7	81693671	81693671	+	Splice_Site	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:81693671C>G	ENST00000356860.3	-	9	1067		c.e9-1		CACNA2D1_ENST00000423588.1_Splice_Site|CACNA2D1_ENST00000356253.5_Splice_Site	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTGGATGTACCTGAAACAAAT	0.323000													24	63					0	0	0.681144	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307932	39307932	+	Silent	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:39307932A>T	ENST00000541347.1	-	2	308	c.69T>A	c.(67-69)atT>atA	p.I23I	CX3CR1_ENST00000399220.2_Silent_p.I23I|CX3CR1_ENST00000542107.1_Silent_p.I23I|CX3CR1_ENST00000358309.3_Silent_p.I55I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	23					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)		CGATGTCCCCAATATAACAGG	0.458000													15	39					0	0	0.500413	0	0
SYNE1	23345	broad.mit.edu	37	6	152757237	152757237	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152757237C>A	ENST00000367255.5	-	33	4751		c.e33-1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		TAGAAAACTCCTAGAAAAAAT	0.398000										HNSCC(10;0.0054)			88	65					1.67174e-50	2.76899e-50	0.870114	1	0
SHANK3	85358	broad.mit.edu	37	22	51143509	51143509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:51143509G>T	ENST00000414786.2	+	16	2199	c.1972G>T	c.(1972-1974)Ggg>Tgg	p.G658W	SHANK3_ENST00000262795.3_Missense_Mutation_p.G688W|SHANK3_ENST00000445220.2_Missense_Mutation_p.G673W			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	688										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGAAGAGGACGGGGCTCGGCG	0.587000													21	62					1.2644e-06	1.44234e-06	0.592651	1	0
SLC7A14	57709	broad.mit.edu	37	3	170216503	170216503	+	Missense_Mutation	SNP	C	C	A	rs141548910		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:170216503C>A	ENST00000231706.4	-	4	1027	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	238						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGTATTTCCCATTGATGAAG	0.522000													31	76					2.48696e-23	3.64527e-23	0.779181	1	0
JSRP1	126306	broad.mit.edu	37	19	2252344	2252344	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:2252344C>A	ENST00000300961.5	-	7	1044	c.980G>T	c.(979-981)gGc>gTc	p.G327V	JSRP1_ENST00000586471.1_Missense_Mutation_p.G327V	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	327	Arg-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		CCGCCCCTTGCCTGCGCGGAG	0.721000													4	7					0.014758	0.015213	0.184627	1	0
WDPCP	51057	broad.mit.edu	37	2	63631467	63631467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:63631467C>T	ENST00000409120.1	-	4	4125	c.575G>A	c.(574-576)aGc>aAc	p.S192N	WDPCP_ENST00000398544.3_Missense_Mutation_p.S225N|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.S192N|WDPCP_ENST00000272321.7_Missense_Mutation_p.S384N|WDPCP_ENST00000409562.3_Missense_Mutation_p.S384N			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	384					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGGGTGGCAGCTTATTAATGA	0.433000													50	99					0	0	0.870114	0	0
IFNL2	282616	broad.mit.edu	37	19	39760161	39760161	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:39760161C>T	ENST00000331982.5	+	4	359	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_172138.1	NP_742150.1			interferon, lambda 2																		GGAGGCTGAGCTGGCCCTGAC	0.627000													16	42					0	0	0.557998	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452395	234452395	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:234452395C>T	ENST00000366618.3	+	5	1021	c.876C>T	c.(874-876)taC>taT	p.Y292Y	SLC35F3_ENST00000366617.3_Silent_p.Y223Y	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	223					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)			TGATGACCTACGCTGATGGCT	0.587000													45	86					0	0	0.870114	0	0
NLGN1	22871	broad.mit.edu	37	3	173997336	173997336	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:173997336C>A	ENST00000457714.1	+	6	1974	c.1545C>A	c.(1543-1545)atC>atA	p.I515I	NLGN1_ENST00000401917.3_Silent_p.I555I|NLGN1_ENST00000545397.1_Silent_p.I515I|NLGN1_ENST00000361589.4_Silent_p.I515I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	532					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTGGGAATCCCCATGATTG	0.443000													27	55					5.61819e-17	7.40328e-17	0.693898	1	0
SRD5A2	6716	broad.mit.edu	37	2	31805986	31805986	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:31805986C>A	ENST00000405650.1	-	0	150							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTGTTCCTCGCCGGTGGCCGC	0.711000													12	14					0.000151284	0.00016318	0.435327	1	0
CDH7	1005	broad.mit.edu	37	18	63530053	63530053	+	Missense_Mutation	SNP	C	C	A	rs138789170	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:63530053C>A	ENST00000536984.2	+	11	2458	c.1764C>A	c.(1762-1764)gaC>gaA	p.D588E	CDH7_ENST00000397968.2_Missense_Mutation_p.D588E|CDH7_ENST00000323011.3_Missense_Mutation_p.D588E			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	588	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D588D(2)		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)				GTGATGCTGACGGCGTAGCCC	0.522000													27	26					1.2476e-16	1.63594e-16	0.706142	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	85					0	0	0.278610	0	0
C3orf38	285237	broad.mit.edu	37	3	88202621	88202621	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:88202621G>T	ENST00000318887.3	+	2	685	c.375_splice	c.e2+1	p.Q125_splice	C3orf38_ENST00000486971.1_Splice_Site_p.Q125_splice	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	125					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TATTTCAACAGGTAAAATAAA	0.383000													14	36					0.000219431	0.000235262	0.457914	1	0
ADCY2	108	broad.mit.edu	37	5	7706876	7706876	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7706876G>A	ENST00000338316.4	+	8	1218	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ADCY2_ENST00000537121.1_Missense_Mutation_p.G197R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	377					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGATGCTACTGGAGTTGATAT	0.443000													54	131					0	0	0.870114	0	0
REG1A	5967	broad.mit.edu	37	2	79349244	79349244	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:79349244C>A	ENST00000233735.1	+	4	417	c.314C>A	c.(313-315)cCc>cAc	p.P105H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	105	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTCCATGACCCCAAAAAGGTA	0.493000													25	63					4.87955e-14	6.1425e-14	0.693898	1	0
PTPRT	11122	broad.mit.edu	37	20	41100930	41100930	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41100930G>T	ENST00000373198.3	-	8	1661	c.1426C>A	c.(1426-1428)Ctg>Atg	p.L476M	PTPRT_ENST00000373187.1_Missense_Mutation_p.L476M|PTPRT_ENST00000356100.2_Missense_Mutation_p.L476M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373190.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373193.3_Missense_Mutation_p.L476M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	476	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)				TGCACCACCAGCTCCTCGCTC	0.582000													43	83					5.73435e-26	8.52188e-26	0.870114	1	0
POLG	5428	broad.mit.edu	37	15	89873428	89873428	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:89873428G>A	ENST00000268124.5	-	3	1072	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	POLG_ENST00000442287.2_Silent_p.L247L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	247					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGACCTCCAGGGGGATGAGG	0.612000								DNA polymerases (catalytic subunits)					10	80					0	0	0.361761	0	0
PRB1	5542	broad.mit.edu	37	12	11506794	11506794	+	Silent	SNP	G	G	T	rs142774972		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506794G>T	ENST00000500254.2	-	3	280	c.243C>A	c.(241-243)ccC>ccA	p.P81P	PRB1_ENST00000546254.1_Silent_p.P81P|PRB1_ENST00000545626.1_Silent_p.P81P	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	264	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCCCTTGTGGGGGTGGTCCTT	0.627000													157	366					6.72002e-22	9.71679e-22	0.870114	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995750	140995750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:140995750C>T	ENST00000285879.4	+	4	2846	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	854							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)					TCTCCAGAGTCCTGTGATCTC	0.507000										HNSCC(15;0.026)			99	74					0	0	0.870114	0	0
ARID1B	57492	broad.mit.edu	37	6	157469762	157469762	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157469762C>G	ENST00000346085.5	+	9	2557	c.2556C>G	c.(2554-2556)aaC>aaG	p.N852K	ARID1B_ENST00000275248.4_Missense_Mutation_p.N781K|ARID1B_ENST00000350026.5_Missense_Mutation_p.N839K|ARID1B_ENST00000367148.1_Missense_Mutation_p.N839K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	839					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)		GTTTAGGTAACTACTCCAGAC	0.473000													53	286					0	0	0.870114	0	0
CLPB	81570	broad.mit.edu	37	11	72004448	72004448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:72004448G>A	ENST00000294053.3	-	17	2260	c.2087C>T	c.(2086-2088)gCa>gTa	p.A696V	CLPB_ENST00000437826.2_Missense_Mutation_p.A651V|CLPB_ENST00000538021.1_Missense_Mutation_p.A304V|CLPB_ENST00000538039.1_Missense_Mutation_p.A666V|CLPB_ENST00000543042.1_Missense_Mutation_p.A495V|CLPB_ENST00000340729.5_Missense_Mutation_p.A637V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	696					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGCAGTGGTGCCCGGATGTC	0.602000													36	153					0	0	0.796494	0	0
ANO4	121601	broad.mit.edu	37	12	101365164	101365164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:101365164G>A	ENST00000392979.3	+	5	793	c.432G>A	c.(430-432)atG>atA	p.M144I	ANO4_ENST00000538618.1_Missense_Mutation_p.M345I|ANO4_ENST00000392977.3_Missense_Mutation_p.M179I|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	179						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGAACAAATGAATGTAAGAA	0.368000										HNSCC(74;0.22)			37	74					0	0	0.834066	0	0
KCNK9	51305	broad.mit.edu	37	8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:140630763G>A	ENST00000520439.1	-	2	926	c.863C>T	c.(862-864)gCg>gTg	p.A288V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.A288V(1)		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)			CGGGACGTCCGCCTTGTACCT	0.667000													77	62					0	0	0.870114	0	0
ROBO2	6092	broad.mit.edu	37	3	77147180	77147180	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:77147180A>T	ENST00000461745.1	+	2	977	c.77A>T	c.(76-78)cAg>cTg	p.Q26L	ROBO2_ENST00000332191.8_Missense_Mutation_p.Q26L|ROBO2_ENST00000487694.3_Missense_Mutation_p.Q42L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	26					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			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)		CGTCTTCGCCAGGAGGACTTT	0.527000													6	14					0	0	0.248553	0	0
CTSO	1519	broad.mit.edu	37	4	156860668	156860668	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:156860668C>G	ENST00000433477.3	-	4	476	c.407G>C	c.(406-408)aGc>aCc	p.S136T		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	136					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCACCACGCTGAAGGCCCA	0.438000													88	67					0	0	0.870114	0	0
MYH8	4626	broad.mit.edu	37	17	10304007	10304007	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:10304007T>C	ENST00000403437.2	-	27	3529	c.3435A>G	c.(3433-3435)gaA>gaG	p.E1145E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1145					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						TCTCCTCCAGTTCCCGGGAGA	0.592000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				98	44					0	0	0.870114	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412823	105412823	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105412823C>G	ENST00000333244.5	-	7	9084	c.8965G>C	c.(8965-8967)Ggg>Cgg	p.G2989R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2989						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACCCCGAACGACGGC	0.602000													165	348					0	0	0.870114	0	0
POLN	353497	broad.mit.edu	37	4	2175683	2175683	+	Splice_Site	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:2175683C>G	ENST00000511885.2	-	11	1726	c.1374_splice	c.e11+1	p.G458_splice	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Splice_Site_p.G458_splice			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	458					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)			ATAACTTACCCCAAGAAGTGC	0.438000								DNA polymerases (catalytic subunits)					130	105					0	0	0.870114	0	0
PHIP	55023	broad.mit.edu	37	6	79770397	79770397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:79770397G>T	ENST00000275034.4	-	5	495	c.328C>A	c.(328-330)Cgc>Agc	p.R110S		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	110					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTATTTGTGCGTAGTAAAGAC	0.318000													33	38					1.74807e-11	2.1352e-11	0.750413	1	0
PHC1	1911	broad.mit.edu	37	12	9089872	9089872	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:9089872C>T	ENST00000433083.2	+	12	2588	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	PHC1_ENST00000543824.1_Missense_Mutation_p.R860C|PHC1_ENST00000544916.1_Missense_Mutation_p.R860C|PHC1_ENST00000536844.1_Missense_Mutation_p.R466C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	860					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGGACCCCGCCGCAGCTCCTC	0.522000													5	11					0	0	0.184627	0	0
ZNF597	146434	broad.mit.edu	37	16	3487215	3487215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:3487215C>A	ENST00000301744.4	-	4	719	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AAGTTTTGGTCACACTCAGGA	0.368000													67	191					4.15811e-52	6.90866e-52	0.870114	1	0
FUBP1	8880	broad.mit.edu	37	1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:78429830C>A	ENST00000370767.1	-	12	1045	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348000			"""F, N"""		oligodendroglioma								70	161					8.65233e-54	1.44656e-53	0.870114	1	0
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:109547447C>A	ENST00000409271.1	-	3	467	c.24G>T	c.(22-24)acG>acT	p.T8T	EDAR_ENST00000376651.1_Silent_p.T8T|EDAR_ENST00000258443.2_Silent_p.T8T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627000													54	112					3.31993e-32	5.11862e-32	0.870114	1	0
EPB41L3	23136	broad.mit.edu	37	18	5397093	5397093	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:5397093G>T	ENST00000341928.2	-	18	3145	c.2805C>A	c.(2803-2805)caC>caA	p.H935Q	EPB41L3_ENST00000427684.2_Missense_Mutation_p.H232Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H713Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H766Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H713Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H240Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H935Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	935	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTTCTGAAATGTGGATGGCTG	0.438000													221	96					1.58895e-58	2.68167e-58	0.870114	1	0
TMC1	117531	broad.mit.edu	37	9	75445586	75445586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:75445586G>T	ENST00000297784.5	+	23	2788	c.2248G>T	c.(2248-2250)Gct>Tct	p.A750S	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A750S|TMC1_ENST00000396237.3_Missense_Mutation_p.A750S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	750	Poly-Ala.				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GAAAATGGCAGCTGCACGAGC	0.318000													9	33					0.00829132	0.00861331	0.361761	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382389	41382389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41382389G>T	ENST00000377801.3	-	2	425	c.351C>A	c.(349-351)ttC>ttA	p.F117L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F117L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	117	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTTTGGCACTGAACAAACCAT	0.448000													57	116					3.89483e-19	5.37045e-19	0.870114	1	0
CXCR3	2833	broad.mit.edu	37	X	70836725	70836725	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70836725G>A	ENST00000373691.4	-	2	901	c.738C>T	c.(736-738)aaC>aaT	p.N246N	CXCR3_ENST00000373693.3_Silent_p.N199N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	199					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGTGGGTGGCGTTGAGGCGCT	0.662000													7	3					0	0	0.307466	0	0
LOC645166	645166	broad.mit.edu	37	1	148932902	148932902	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:148932902C>A	ENST00000539543.1	+	0	158					NR_027355.1																						AGTCTGCGGCCAAGACTCCGT	0.607000													12	235					1.00905e-13	1.26426e-13	0.575678	1	0
LRP2	4036	broad.mit.edu	37	2	170013897	170013897	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:170013897G>A	ENST00000263816.3	-	64	12288	c.12003C>T	c.(12001-12003)gaC>gaT	p.D4001D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4001	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGAGGTTCTGTCAAAAACAT	0.383000													19	39					0	0	0.592651	0	0
COG4	25839	broad.mit.edu	37	16	70530226	70530226	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:70530226T>A	ENST00000323786.5	-	12	1611	c.1590A>T	c.(1588-1590)caA>caT	p.Q530H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	526					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAAATTTGCCTTGCTGGAGGC	0.547000													15	74					0	0	0.520397	0	0
AKAP1	8165	broad.mit.edu	37	17	55183669	55183669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:55183669G>A	ENST00000337714.3	+	2	1077	c.844G>A	c.(844-846)Gac>Aac	p.D282N	AKAP1_ENST00000314126.3_Missense_Mutation_p.D282N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D282N|AKAP1_ENST00000571629.1_Missense_Mutation_p.D282N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D282N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	282					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)					GCTGGCAAAGGACGATGCGGC	0.577000													52	111					0	0	0.870114	0	0
NYAP2	57624	broad.mit.edu	37	2	226446802	226446802	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:226446802G>A	ENST00000272907.6	+	4	1082	c.669G>A	c.(667-669)ccG>ccA	p.P223P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	223																	CGTCGCTGCCGCGGGACTCCT	0.582000													16	211					0	0	0.520397	0	0
NFKBID	84807	broad.mit.edu	37	19	36381394	36381394	+	Splice_Site	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:36381394T>A	ENST00000396901.1	-	10	1180		c.e10-2		NFKBID_ENST00000340950.2_Splice_Site|NFKBID_ENST00000606253.1_Splice_Site|NFKBID_ENST00000352614.2_Splice_Site	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta						inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTTGATCTCCTGAGGGGAAGG	0.617000													49	87					0	0	0.870114	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221172	10221172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:10221172G>A	ENST00000428358.1	+	10	1085	c.913G>A	c.(913-915)Gag>Aag	p.E305K	PPAN_ENST00000253107.7_Missense_Mutation_p.E305K|PPAN_ENST00000556468.1_Missense_Mutation_p.E305K|PPAN_ENST00000393793.1_Missense_Mutation_p.E252K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E305K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		305					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCAAGACGGAGGAGGAGCT	0.657000													6	19					0	0	0.217242	0	0
OR6A2	8590	broad.mit.edu	37	11	6815970	6815970	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6815970T>C	ENST00000332601.3	-	1	1158	c.970A>G	c.(970-972)Agc>Ggc	p.S324G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATTTCTGCTAGCTTTCTTG	0.443000													19	81					0	0	0.557998	0	0
C1orf168	199920	broad.mit.edu	37	1	57257960	57257960	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57257960C>A	ENST00000343433.6	-	2	606	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	176										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGTAAGCCCCATGCCTTTT	0.488000													66	120					1.17004e-41	1.89116e-41	0.870114	1	0
FOXD4L5	653427	broad.mit.edu	37	9	70177139	70177139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:70177139G>T	ENST00000377420.1	-	1	1676	c.845C>A	c.(844-846)cCg>cAg	p.P282Q		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	282					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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(5)|lung(2)	7						TGCTTTCTTCGGTGCCCCGGC	0.677000													17	97					3.08376e-08	3.57877e-08	0.654019	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530450	80530450	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530450C>G	ENST00000295057.3	-	2	1151	c.495G>C	c.(493-495)acG>acC	p.T165T	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.T165T	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	165						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCATATGCAGCGTGGTGAGCT	0.622000										HNSCC(69;0.2)			21	59					0	0	0.667858	0	0
WDR46	9277	broad.mit.edu	37	6	33254975	33254975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:33254975T>C	ENST00000374617.4	-	9	1264	c.908A>G	c.(907-909)gAt>gGt	p.D303G		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	303										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CACTGACACATCCAGGTAGGT	0.517000													120	61					0	0	0.870114	0	0
TBKBP1	9755	broad.mit.edu	37	17	45785830	45785830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:45785830C>A	ENST00000361722.3	+	7	1792	c.943C>A	c.(943-945)Cag>Aag	p.Q315K		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	315					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GAGTTCCCTACAGGGGAGAAT	0.652000													17	41					3.32936e-07	3.82233e-07	0.539581	1	0
RBFADN	100506070	broad.mit.edu	37	18	77794529	77794529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:77794529C>T	ENST00000569722.1	+	1	184	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	RBFA_ENST00000306735.5_Missense_Mutation_p.R12C|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.R12C																							GTGGCGCTCCCGCGCGGGTCT	0.716000													12	11					0	0	0.435327	0	0
ELK4	2005	broad.mit.edu	37	1	205585757	205585757	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:205585757T>C	ENST00000357992.4	-	5	1552	c.1213A>G	c.(1213-1215)Aac>Gac	p.N405D		NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCATGACTGTTCAGTACAGAA	0.438000			T	SLC45A3	prostate								22	85					0	0	0.624587	0	0
ABCA12	26154	broad.mit.edu	37	2	215843554	215843554	+	Missense_Mutation	SNP	C	C	T	rs28940568		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215843554C>T	ENST00000272895.7	-	32	5170	c.4951G>A	c.(4951-4953)Ggc>Agc	p.G1651S	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1333S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1651			G -> S (in LI2; dbSNP:rs28940568).		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTGAAATGCCGTAGCACCCG	0.458000													30	90					0	0	0.760397	0	0
COL22A1	169044	broad.mit.edu	37	8	139620234	139620234	+	Splice_Site	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139620234T>G	ENST00000303045.6	-	57	4425		c.e57-2		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						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)			ATTCTTGCCCTGGTGGAAGAA	0.517000										HNSCC(7;0.00092)			21	108					0	0	0.575678	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864056	31864056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:31864056C>A	ENST00000334063.4	-	1	219	c.220G>T	c.(220-222)Gga>Tga	p.G74*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	74						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AATCCATATCCTCCATAGTAT	0.473000													67	147					1.40369e-38	2.24171e-38	0.870114	1	0
CEP192	55125	broad.mit.edu	37	18	13053023	13053023	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:13053023G>T	ENST00000506447.1	+	18	3203	c.3123G>T	c.(3121-3123)acG>acT	p.T1041T	CEP192_ENST00000430049.2_Silent_p.T566T|CEP192_ENST00000325971.8_Silent_p.T445T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	636										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGGCTGACGTATGTGTCTG	0.562000													83	458					1.45872e-26	2.17992e-26	0.870114	1	0
RFX1	5989	broad.mit.edu	37	19	14074050	14074050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:14074050C>A	ENST00000254325.4	-	19	2842	c.2608G>T	c.(2608-2610)Gcc>Tcc	p.A870S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	870	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGAAGCTGGCGGCGCTGCGC	0.672000													12	30					1.05317e-09	1.24381e-09	0.457914	1	0
KRT72	140807	broad.mit.edu	37	12	52979793	52979793	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:52979793G>A	ENST00000293745.2	-	9	1594	c.1509C>T	c.(1507-1509)agC>agT	p.S503S	KRT72_ENST00000537672.2_Silent_p.S503S|KRT72_ENST00000354310.4_Silent_p.S461S|KRT72_ENST00000398066.3_Silent_p.S315S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	503	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGGCACAGCTGCTCCCCG	0.562000													98	202					0	0	0.870114	0	0
TNNI3K	51086	broad.mit.edu	37	1	75005943	75005943	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:75005943C>A	ENST00000370891.2	+	26	2696	c.2680C>A	c.(2680-2682)Ctg>Atg	p.L894M	TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L894M|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L793M	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.L793M(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTCTCAAGGTCTGTCTTTGGA	0.348000													22	61					5.35356e-11	6.4363e-11	0.639603	1	0
MMP19	4327	broad.mit.edu	37	12	56232343	56232343	+	Silent	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:56232343A>C	ENST00000409200.3	-	5	801	c.696T>G	c.(694-696)ccT>ccG	p.P232P	MMP19_ENST00000548629.1_Intron|MMP19_ENST00000322569.4_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	429					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAGGATCAGCAGGCTGCCCCC	0.582000													20	37					0	0	0.608945	0	0
ABCC9	10060	broad.mit.edu	37	12	21970133	21970133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:21970133C>A	ENST00000261200.4	-	31	3879	c.3880G>T	c.(3880-3882)Gaa>Taa	p.E1294*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E1258*|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E1294*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1294					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTGTGCCTTCATAGTTCTCT	0.378000													75	204					1.42748e-55	2.40157e-55	0.870114	1	0
KNDC1	85442	broad.mit.edu	37	10	135011841	135011841	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:135011841G>T	ENST00000304613.3	+	13	1928	c.1906_splice	c.e13-1	p.G636_splice	KNDC1_ENST00000368571.2_Splice_Site_p.G571_splice|KNDC1_ENST00000368572.2_Splice_Site_p.G636_splice			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCTCCCCAGGCTTCCTGCCG	0.721000													5	8					8.12818e-05	8.80279e-05	0.248553	1	0
PLEKHG7	440107	broad.mit.edu	37	12	93134644	93134644	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:93134644C>A	ENST00000344636.3	+	3	203	c.19C>A	c.(19-21)Cta>Ata	p.L7I	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.L7I	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	7	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATGAATACACTAAGATATCT	0.313000													26	53					2.27525e-19	3.15353e-19	0.667858	1	0
NARG2	79664	broad.mit.edu	37	15	60745949	60745949	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:60745949T>A	ENST00000261520.4	-	9	1212	c.978A>T	c.(976-978)tcA>tcT	p.S326S	NARG2_ENST00000439632.1_Silent_p.S189S|NARG2_ENST00000561114.1_Silent_p.S326S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	326						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GGGGAAGTGGTGAATTAATAT	0.289000													32	97					0	0	0.769981	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610472	38610472	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:38610472G>T	ENST00000222345.6	+	9	3327	c.2818G>T	c.(2818-2820)Gcg>Tcg	p.A940S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	940					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCCTACAGGCGACAGAGGG	0.542000													22	44					3.10358e-05	3.39553e-05	0.624587	1	0
ATAD2B	54454	broad.mit.edu	37	2	23977593	23977593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:23977593G>A	ENST00000238789.5	-	26	4473	c.4130C>T	c.(4129-4131)aCg>aTg	p.T1377M	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1377							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTTGTCGTTTTTGCCTG	0.383000													32	57					0	0	0.740014	0	0
SYNE1	23345	broad.mit.edu	37	6	152673332	152673332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152673332C>G	ENST00000367255.5	-	70	12011	c.11410G>C	c.(11410-11412)Gtc>Ctc	p.V3804L	SYNE1_ENST00000423061.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3775L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3804L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3804					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)		TCTTTCCGGACAGTGCTGGTC	0.453000										HNSCC(10;0.0054)			204	184					0	0	0.870114	0	0
ALK	238	broad.mit.edu	37	2	29519791	29519791	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:29519791G>T	ENST00000389048.3	-	9	2686	c.1780C>A	c.(1780-1782)Cag>Aag	p.Q594K	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	594	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACCATCCACTGCCACAGGCTC	0.522000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	29					0.0558828	0.0573845	0.592651	1	0
ASH1L	55870	broad.mit.edu	37	1	155340374	155340374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155340374C>A	ENST00000368346.3	-	12	7261	c.6622G>T	c.(6622-6624)Gtg>Ttg	p.V2208L	ASH1L_ENST00000392403.3_Missense_Mutation_p.V2203L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2208	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGTCAATCACCATCCCACTA	0.418000													66	100					6.75472e-32	1.03844e-31	0.870114	1	0
TRPA1	8989	broad.mit.edu	37	8	72973870	72973870	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:72973870T>C	ENST00000262209.4	-	7	1141	c.934A>G	c.(934-936)Atg>Gtg	p.M312V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	312						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGAAGCATGGTCTCATGA	0.423000													91	77					0	0	0.870114	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	48					0	0	0.217242	0	0
XXYLT1	152002	broad.mit.edu	37	3	194947466	194947466	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:194947466C>T	ENST00000310380.6	-	2	732	c.624G>A	c.(622-624)tcG>tcA	p.S208S	XXYLT1_ENST00000429994.1_Silent_p.S62S	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	208						integral to membrane	transferase activity, transferring glycosyl groups										GCATGGCGACCGAGAGGAAGA	0.537000													6	90					0	0	0.217242	0	0
ZBTB4	57659	broad.mit.edu	37	17	7370091	7370091	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7370091C>T	ENST00000311403.4	-	3	369	c.30G>A	c.(28-30)ccG>ccA	p.P10P	ZBTB4_ENST00000380599.4_Silent_p.P10P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	10					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)		GGGCATGGGACGGGTCCGTCA	0.657000													2	0					0	0	0.115264	0	0
RUNX2	860	broad.mit.edu	37	6	45405777	45405777	+	Missense_Mutation	SNP	G	G	T	rs104893991		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:45405777G>T	ENST00000371438.1	+	4	1032	c.674G>T	c.(673-675)cGg>cTg	p.R225L	RUNX2_ENST00000576263.1_Missense_Mutation_p.R225L|RUNX2_ENST00000465038.2_Missense_Mutation_p.R225L|RUNX2_ENST00000352853.5_Missense_Mutation_p.R293L|RUNX2_ENST00000359524.5_Missense_Mutation_p.R211L|RUNX2_ENST00000371436.6_Missense_Mutation_p.R225L|RUNX2_ENST00000371432.3_Missense_Mutation_p.R211L|RUNX2_ENST00000541979.1_Missense_Mutation_p.R293L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	225	Runt.		R -> L (in CLCD).|R -> Q (in CLCD; interferes with nuclear localization; abolishes DNA binding).|R -> W (in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R225L(1)|p.R293L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATGGACCTCGGGAACCCAGA	0.413000													116	78					7.81258e-50	1.29004e-49	0.870114	1	0
PROKR2	128674	broad.mit.edu	37	20	5283103	5283103	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5283103G>T	ENST00000546004.1	-	3	984	c.738C>A	c.(736-738)atC>atA	p.I246I	PROKR2_ENST00000217270.3_Silent_p.I246I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	246						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GCTCCCGGGAGATCCTGGCAT	0.587000										HNSCC(71;0.22)			34	66					9.17885e-22	1.32363e-21	0.779181	1	0
UTRN	7402	broad.mit.edu	37	6	144779941	144779941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:144779941G>T	ENST00000367545.3	+	19	2320	c.2320G>T	c.(2320-2322)Gag>Tag	p.E774*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	774	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAATGTTCTGGAGAAGGTTTC	0.328000													123	110					1.00425e-38	1.61344e-38	0.870114	1	0
MIEF1	54471	broad.mit.edu	37	22	39907350	39907350	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:39907350C>A	ENST00000325301.2	+	3	475	c.51C>A	c.(49-51)ggC>ggA	p.G17G	SMCR7L_ENST00000402881.1_Silent_p.G17G|SMCR7L_ENST00000404569.1_Silent_p.G17G	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		17						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ATGGCATTGGCACGGCCATTG	0.587000													13	39					2.61681e-11	3.17459e-11	0.457914	1	0
ZNF98	148198	broad.mit.edu	37	19	22586259	22586259	+	Missense_Mutation	SNP	C	C	A	rs138636054	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22586259C>A	ENST00000357774.5	-	2	207	c.86G>T	c.(85-87)tGc>tTc	p.C29F	ZNF98_ENST00000601553.1_Missense_Mutation_p.C29F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTGTCCAGGCATTGCCACTC	0.413000													29	99					4.74835e-14	5.99144e-14	0.750413	1	0
VPS13C	54832	broad.mit.edu	37	15	62202492	62202492	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:62202492A>G	ENST00000261517.5	-	64	8801	c.8728T>C	c.(8728-8730)Tgg>Cgg	p.W2910R	VPS13C_ENST00000395898.3_Missense_Mutation_p.W2867R|VPS13C_ENST00000395896.4_Missense_Mutation_p.W2910R|VPS13C_ENST00000249837.3_Missense_Mutation_p.W2867R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2910					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						CTTTCTGGCCAAAATGGAAGG	0.328000													12	36					0	0	0.520397	0	0
SSH2	85464	broad.mit.edu	37	17	27963640	27963640	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:27963640T>C	ENST00000269033.3	-	14	1678	c.1527A>G	c.(1525-1527)gaA>gaG	p.E509E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.E536E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	509					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGACCATATGTTCCACAAAGA	0.463000													38	159					0	0	0.819951	0	0
AMER2	219287	broad.mit.edu	37	13	25744108	25744108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:25744108G>T	ENST00000357816.2	-	3	1768	c.1293C>A	c.(1291-1293)taC>taA	p.Y431*	AMER2_ENST00000381853.3_Nonsense_Mutation_p.Y431*|AMER2_ENST00000515384.1_Nonsense_Mutation_p.Y550*					APC membrane recruitment protein 2																		CGTCCCCGCTGTAGCTATCCC	0.642000													41	23					9.62906e-15	1.22949e-14	0.819951	1	0
SPIN4	139886	broad.mit.edu	37	X	62570269	62570269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:62570269G>C	ENST00000374884.2	-	1	954	c.376C>G	c.(376-378)Cga>Gga	p.R126G	SPIN4_ENST00000335144.3_Missense_Mutation_p.R144G|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	144					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ACAGGAGCTCGCGCCAGGACC	0.478000													54	36					0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141765554	141765554	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:141765554T>A	ENST00000475668.2	+	40	4747	c.4693T>A	c.(4693-4695)Tac>Aac	p.Y1565N	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1565	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACGCTGAGTACGAGATGTG	0.498000													23	56					0	0	0.667858	0	0
KIF4B	285643	broad.mit.edu	37	5	154394078	154394078	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:154394078T>C	ENST00000435029.4	+	1	819	c.659T>C	c.(658-660)aTa>aCa	p.I220T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	220	Kinesin-motor.			I -> L (in Ref. 1; AF241316).	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)			ACAATCTCCATAGAGCAAAGA	0.468000													39	83					0	0	0.819951	0	0
COLEC12	81035	broad.mit.edu	37	18	346445	346445	+	Missense_Mutation	SNP	G	G	A	rs140549407		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:346445G>A	ENST00000400256.3	-	5	1384	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	393					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAATCCAAACGGATGTTGGCC	0.433000													202	76					0	0	0.870114	0	0
DLX5	1749	broad.mit.edu	37	7	96650315	96650315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:96650315C>T	ENST00000222598.4	-	3	1076	c.603G>A	c.(601-603)atG>atA	p.M201I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	201					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)					GCTCCGGGGGCATCTCCCCGT	0.577000													23	63					0	0	0.667858	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:46252598C>T	ENST00000510861.1	-	10	1256	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	361					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)	TGTTCTGTATCATAACGGAAG	0.398000													8	105					0	0	0.335167	0	0
MACF1	23499	broad.mit.edu	37	1	39720017	39720017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:39720017G>T	ENST00000564288.1	+	5	1182	c.405G>T	c.(403-405)caG>caT	p.Q135H	MACF1_ENST00000539005.1_Missense_Mutation_p.Q140H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q140H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q140H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q172H|RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000317713.7_Missense_Mutation_p.Q140H|MACF1_ENST00000372915.3_Missense_Mutation_p.Q140H|MACF1_ENST00000536367.1_Missense_Mutation_p.Q103H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	140	Actin-binding.|CH 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATGTGCAGATTGCCCTGG	0.478000													34	80					2.94152e-06	3.32007e-06	0.804634	1	0
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:5218496G>A	ENST00000372412.4	-	25	4219	c.3986C>T	c.(3985-3987)gCc>gTc	p.A1329V	PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					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)		GGCGAGGTCGGCATTGTTCAG	0.527000													6	347					0	0	0.248553	0	0
MUC6	4588	broad.mit.edu	37	11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:1016760G>T	ENST00000421673.2	-	31	6091	c.6041C>A	c.(6040-6042)aCc>aAc	p.T2014N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2014	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAAGGAGGTGGAGAAAGG	0.537000													65	1040					1.54707e-10	1.85163e-10	0.870114	1	0
C1R	715	broad.mit.edu	37	12	7241888	7241888	+	Splice_Site	SNP	C	C	T	rs112305412		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:7241888C>T	ENST00000542285.1	-	5	915		c.e5+1					P00736	C1R_HUMAN	complement component 1, r subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GACGGCTGTACCTGTAGCTGG	0.592000													13	20					0	0	0.411799	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503929	71503929	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71503929G>A	ENST00000265382.3	+	7	656	c.351G>A	c.(349-351)ctG>ctA	p.L117L	PIP5K1B_ENST00000541509.1_Silent_p.L117L	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	117	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAATAGAACTGTCTAACCCTG	0.383000													54	130					0	0	0.870114	0	0
OR2L2	26246	broad.mit.edu	37	1	248202460	248202460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248202460G>A	ENST00000366479.2	+	1	987	c.891G>A	c.(889-891)atG>atA	p.M297I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGGAGGTGATGGGGGCCCTGA	0.453000													17	94					0	0	0.539581	0	0
MDH1B	130752	broad.mit.edu	37	2	207621698	207621698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621698C>T	ENST00000374412.3	-	4	612	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	MDH1B_ENST00000454776.2_Missense_Mutation_p.G113R|MDH1B_ENST00000449792.1_Missense_Mutation_p.G15R|MDH1B_ENST00000392214.2_Missense_Mutation_p.G113R	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	113					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATATGTGCCCCCAGGTTCTCT	0.443000													31	76					0	0	0.729181	0	0
LPHN3	23284	broad.mit.edu	37	4	62845283	62845283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62845283C>A	ENST00000512091.1	+	17	3351	c.2604C>A	c.(2602-2604)caC>caA	p.H868Q	LPHN3_ENST00000506720.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.H868Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	855					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						GTTTCCAGCACAGTGATGCGG	0.413000													146	86					7.32983e-86	1.24491e-85	0.870114	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534417	84534417	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:84534417C>A	ENST00000527857.1	+	0	4439					NR_026851.1																						CAGAGCAGAGCCTTTCCAGGG	0.507000													11	18					4.68919e-08	5.43012e-08	0.361761	1	0
RAC2	5880	broad.mit.edu	37	22	37627347	37627347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37627347G>T	ENST00000249071.6	-	5	493	c.372C>A	c.(370-372)gaC>gaA	p.D124E	RAC2_ENST00000406508.1_Missense_Mutation_p.D80E|RAC2_ENST00000405484.1_Missense_Mutation_p.D117E	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	124					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCTCGATGGTGTCCTTGTCGT	0.637000													35	54					4.65686e-17	6.15166e-17	0.788014	1	0
KLRC3	3823	broad.mit.edu	37	12	10569334	10569334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:10569334C>T	ENST00000396439.2	-	5	563	c.519G>A	c.(517-519)tgG>tgA	p.W173*	KLRC3_ENST00000381903.2_Nonsense_Mutation_p.W173*|NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.W173*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.W173*	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACACACCAATCCATGAGGAAG	0.289000													26	40					0	0	0.693898	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77375634	77375634	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:77375634G>C	ENST00000282849.5	-	11	2095	c.1677C>G	c.(1675-1677)ccC>ccG	p.P559P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	559	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGCTGCGGGCATAAACT	0.418000													14	43					0	0	0.575678	0	0
REN	5972	broad.mit.edu	37	1	204131245	204131245	+	Silent	SNP	G	G	T	rs121917741		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:204131245G>T	ENST00000367195.2	-	2	188	c.145C>A	c.(145-147)Cga>Aga	p.R49R	REN_ENST00000272190.8_Silent_p.R49R			P00797	RENI_HUMAN	renin	49					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCCACACCTCGTTCCTTCAGG	0.542000											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0.000673444	0.000709237	0.361761	1	0
WNK4	65266	broad.mit.edu	37	17	40937377	40937377	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:40937377G>T	ENST00000246914.5	+	6	1374	c.1353G>T	c.(1351-1353)ccG>ccT	p.P451P	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	451					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCGAGAAGCCGGGCCTCAAGC	0.706000													7	16					0.000274275	0.000290569	0.307466	1	0
TRIM22	10346	broad.mit.edu	37	11	5717794	5717794	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5717794A>G	ENST00000379965.3	+	2	609	c.332A>G	c.(331-333)gAt>gGt	p.D111G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	111					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)		TGTAAGGAGGATGGAAAAGTC	0.483000													31	56					0	0	0.729181	0	0
SLC25A20	788	broad.mit.edu	37	3	48896061	48896061	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:48896061G>C	ENST00000319017.4	-	8	920	c.722C>G	c.(721-723)cCt>cGt	p.P241R	SLC25A20_ENST00000430379.1_Missense_Mutation_p.P168R|SLC25A20_ENST00000544097.1_Missense_Mutation_p.P191R	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	241					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTTCCCAGGAGGTGCTGTGGG	0.483000													25	107					0	0	0.681144	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868460	22868460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22868460G>A	ENST00000302097.3	-	2	1747	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	499					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)		GATCCTGGCTGAACTGAAGTT	0.413000													47	99					0	0	0.870114	0	0
MED23	9439	broad.mit.edu	37	6	131946091	131946091	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:131946091A>G	ENST00000403834.3	-	4	371	c.198T>C	c.(196-198)ttT>ttC	p.F66F	MED23_ENST00000540546.1_Silent_p.F66F|MED23_ENST00000368058.1_Silent_p.F66F|MED23_ENST00000368060.3_Silent_p.F66F|MED23_ENST00000354577.4_Silent_p.F66F|MED23_ENST00000539158.1_Silent_p.F66F|MED23_ENST00000368068.3_Silent_p.F66F|MED23_ENST00000368053.4_Silent_p.F66F			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	66					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GACCATGAATAAACTTAACAA	0.378000													39	190					0	0	0.834066	0	0
EHD3	30845	broad.mit.edu	37	2	31489393	31489393	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:31489393C>T	ENST00000322054.5	+	6	1716	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	477	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAAGCTGCCCAACAGTGTGC	0.552000													30	67					0	0	0.717897	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185032	130185032	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:130185032G>A	ENST00000422113.2	-	2	617	c.291C>T	c.(289-291)taC>taT	p.Y97Y		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	97						integral to membrane		p.Y97Y(1)		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)		AGAAAGGCCCGTAGCTGGCAT	0.488000													30	52					0	0	0.706142	0	0
PCDH15	65217	broad.mit.edu	37	10	56077052	56077052	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:56077052G>T	ENST00000373965.2	-	8	1249	c.855C>A	c.(853-855)gcC>gcA	p.A285A	PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000320301.6_Silent_p.A285A|PCDH15_ENST00000414778.1_Silent_p.A290A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000395445.1_Silent_p.A285A|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000395438.1_Silent_p.A285A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	285	Cadherin 3.				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	p.A285A(2)|p.A290A(2)		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)				ACTCAGGTATGGCAGCTTGAT	0.413000										HNSCC(58;0.16)			29	34					4.74835e-14	5.99144e-14	0.750413	1	0
CHRNA10	57053	broad.mit.edu	37	11	3688905	3688905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:3688905C>G	ENST00000250699.2	-	4	523	c.452G>C	c.(451-453)cGc>cCc	p.R151P	CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	151					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCACGAGCTGCGCGTGATGGC	0.711000													5	17					0	0	0.248553	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555407	155555407	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155555407G>A	ENST00000295101.2	+	1	597	c.120G>A	c.(118-120)aaG>aaA	p.K40K	KCNJ3_ENST00000544049.1_Silent_p.K40K	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	40			K -> R (in dbSNP:rs16838016).		synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTGTGCCCAAGAAGAAGCGGC	0.617000													24	44					0	0	0.740014	0	0
NCOA7	135112	broad.mit.edu	37	6	126210575	126210575	+	Missense_Mutation	SNP	G	G	T	rs138843029		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:126210575G>T	ENST00000368357.3	+	10	1727	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	NCOA7_ENST00000392477.2_Missense_Mutation_p.V459L|NCOA7_ENST00000229634.9_Missense_Mutation_p.V344L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	459					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAATTCTGCCGTGGAAATGCA	0.453000													41	162					1.7489e-18	2.36279e-18	0.859065	1	0
KBTBD6	89890	broad.mit.edu	37	13	41706215	41706215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:41706215A>T	ENST00000379485.1	-	1	667	c.433T>A	c.(433-435)Tac>Aac	p.Y145N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y79N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	145							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GAGGCCGCGTACAGGCGCTCC	0.597000													35	40					0	0	0.796494	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509367	106509367	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106509367C>A	ENST00000359195.3	+	2	1671	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.S454Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.S454Y	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	454					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGTTCTGAGTCCAAGGGCAAA	0.532000													39	99					1.30998e-17	1.73906e-17	0.812448	1	0
OR10H5	284433	broad.mit.edu	37	19	15905710	15905710	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15905710C>A	ENST00000308940.8	+	1	950	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTCACACCCTTCCTCAGCC	0.527000													22	44					4.47668e-21	6.38673e-21	0.667858	1	0
ABCD1	215	broad.mit.edu	37	X	153009062	153009062	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:153009062C>A	ENST00000218104.3	+	10	2510	c.2111C>A	c.(2110-2112)gCg>gAg	p.A704E	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	704					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTGGCGGGCATTCCC	0.682000													4	2					2.0095e-06	2.28255e-06	0.248553	1	0
RASAL1	8437	broad.mit.edu	37	12	113543660	113543660	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:113543660C>A	ENST00000546530.1	-	17	1977	c.1692G>T	c.(1690-1692)ccG>ccT	p.P564P	RASAL1_ENST00000261729.5_Silent_p.P562P|RASAL1_ENST00000548055.1_Silent_p.P563P|RASAL1_ENST00000446861.3_Silent_p.P562P|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCCGAGGGCGGGAACAGGG	0.622000													31	99					1.61788e-16	2.11114e-16	0.760397	1	0
HDDC2	51020	broad.mit.edu	37	6	125614026	125614026	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:125614026T>A	ENST00000398153.1	-	4	542	c.339A>T	c.(337-339)ctA>ctT	p.L113L	HDDC2_ENST00000368377.4_Silent_p.L79L	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	113	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GGTCCTCTGGTAGGAGCTGGG	0.353000													171	135					0	0	0.870114	0	0
FAT2	2196	broad.mit.edu	37	5	150920141	150920141	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150920141G>C	ENST00000261800.5	-	10	9038	c.9026C>G	c.(9025-9027)cCa>cGa	p.P3009R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3009	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACACTGTGGGCTGTTATC	0.537000													11	15					0	0	0.592651	0	0
SATB2	23314	broad.mit.edu	37	2	200173595	200173595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:200173595C>T	ENST00000443023.1	-	9	2916	c.1451G>A	c.(1450-1452)cGc>cAc	p.R484H	SATB2_ENST00000417098.1_Missense_Mutation_p.R543H|SATB2_ENST00000457245.1_Missense_Mutation_p.R543H|SATB2_ENST00000428695.1_Missense_Mutation_p.R425H|SATB2_ENST00000260926.5_Missense_Mutation_p.R543H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	543						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCAGGAAGCGACGGATGGT	0.572000													5	112					0	0	0.184627	0	0
TGM6	343641	broad.mit.edu	37	20	2411213	2411213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2411213G>T	ENST00000202625.2	+	11	1861	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	TGM6_ENST00000381423.1_Missense_Mutation_p.K600N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	600					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGTGGAGAAGGACATTACTC	0.512000													22	59					0.000175454	0.000188869	0.592651	1	0
INO80B	83444	broad.mit.edu	37	2	74684871	74684871	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:74684871G>C	ENST00000233331.7	+	5	1045	c.951G>C	c.(949-951)ccG>ccC	p.P317P		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	317					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GTCCCCATCCGCGCCGCTACG	0.701000													17	39					0	0	0.539581	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200507	72200507	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:72200507A>G	ENST00000555818.1	+	19	5397	c.5049A>G	c.(5047-5049)gtA>gtG	p.V1683V	SIPA1L1_ENST00000537413.1_Silent_p.V1137V|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.V1662V|SIPA1L1_ENST00000358550.2_Silent_p.V1662V	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1683					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAACCTGGTAGATGCTGCCA	0.587000													21	42					0	0	0.592651	0	0
BRINP2	57795	broad.mit.edu	37	1	177247890	177247890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:177247890C>T	ENST00000361539.4	+	7	1516	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		402						extracellular region		p.R402C(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCGCTGCCATCGCCAGCCTCG	0.617000													11	57					0	0	0.435327	0	0
TJP2	9414	broad.mit.edu	37	9	71845118	71845118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71845118G>T	ENST00000377245.4	+	11	1849	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D	TJP2_ENST00000348208.4_Missense_Mutation_p.E547D|TJP2_ENST00000535702.1_Missense_Mutation_p.E551D|TJP2_ENST00000539225.1_Missense_Mutation_p.E578D|TJP2_ENST00000265384.7_Missense_Mutation_p.E547D|TJP2_ENST00000453658.2_Missense_Mutation_p.E524D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	547	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CGGAGCAGGAGGGCCTTCAAG	0.517000													37	55					3.78316e-11	4.56882e-11	0.819951	1	0
TRHDE	29953	broad.mit.edu	37	12	72955994	72955994	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:72955994G>T	ENST00000261180.4	+	8	1799	c.1703G>T	c.(1702-1704)tGg>tTg	p.W568L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	568					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATGATCTCTGGAATACATTA	0.289000													26	37					0.000227799	0.000243745	0.729181	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530249	80530249	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530249G>T	ENST00000295057.3	-	2	1352	c.696C>A	c.(694-696)ctC>ctA	p.L232L	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L232L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	232						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGGGAGATGAGGCGCGGGA	0.592000										HNSCC(69;0.2)			59	111					6.09941e-20	8.54236e-20	0.870114	1	0
CEP112	201134	broad.mit.edu	37	17	64059162	64059162	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:64059162C>A	ENST00000392769.2	-	11	1211	c.993G>T	c.(991-993)gaG>gaT	p.E331D	CEP112_ENST00000535342.2_Missense_Mutation_p.E331D|CEP112_ENST00000537949.1_Missense_Mutation_p.E289D|CEP112_ENST00000541355.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	331						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTCTTTAGTCTCTCTGATAA	0.323000													30	66					2.4375e-19	3.36967e-19	0.717897	1	0
TDRD10	126668	broad.mit.edu	37	1	154516995	154516995	+	Splice_Site	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154516995T>A	ENST00000368482.4	+	10	1635		c.e10+2		TDRD10_ENST00000368480.3_Splice_Site|TDRD10_ENST00000479937.1_Splice_Site	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10								nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGAACAGGTGTGTGCCTGG	0.587000													5	14					0	0	0.278610	0	0
NCAM2	4685	broad.mit.edu	37	21	22849700	22849700	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:22849700A>G	ENST00000400546.1	+	15	2234	c.1985A>G	c.(1984-1986)tAt>tGt	p.Y662C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y520C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	662	Fibronectin type-III 2.			YEVQIT -> MKFRLP (in Ref. 1; AAB80803).	neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACCATGGGGTATGAAGTTCAG	0.403000													34	49					0	0	0.760397	0	0
OR5T2	219464	broad.mit.edu	37	11	55999771	55999771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55999771C>A	ENST00000313264.4	-	1	966	c.891G>T	c.(889-891)atG>atT	p.M297I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTCTCACATACATGAAGAGGA	0.423000													75	91					7.577e-32	1.16152e-31	0.870114	1	0
NALCN	259232	broad.mit.edu	37	13	101910914	101910914	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:101910914C>T	ENST00000251127.6	-	11	1227	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	NALCN_ENST00000376196.3_Silent_p.R382R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACGGATGACCGCATCATTT	0.463000													12	20					0	0	0.387290	0	0
MAPK4	5596	broad.mit.edu	37	18	48248423	48248423	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:48248423G>C	ENST00000400384.2	+	4	1843	c.807G>C	c.(805-807)gaG>gaC	p.E269D	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E58D	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	269	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCACCTGGGAGGTGAAGAGGC	0.582000													10	20					0	0	0.411799	0	0
LDB3	11155	broad.mit.edu	37	10	88446827	88446827	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:88446827G>T	ENST00000429277.2	+	6	836	c.689_splice	c.e6-1	p.A231_splice	LDB3_ENST00000372056.4_Splice_Site_p.A231_splice|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372066.3_Splice_Site_p.A116_splice|LDB3_ENST00000263066.6_Splice_Site_p.A116_splice|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000458213.2_Splice_Site_p.A116_splice|LDB3_ENST00000310944.6_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	231						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.A231P(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTCCCCCAGCGCCGACTACCA	0.672000													85	264					3.05217e-42	4.97839e-42	0.870114	1	0
AMPH	273	broad.mit.edu	37	7	38505100	38505100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:38505100G>C	ENST00000356264.2	-	9	931	c.716C>G	c.(715-717)gCc>gGc	p.A239G	AMPH_ENST00000428293.2_Missense_Mutation_p.A239G|AMPH_ENST00000325590.5_Missense_Mutation_p.A239G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	239	BAR.				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						GGCCTTGTCGGCGTGCTGGTC	0.507000													7	5					0	0	0.278610	0	0
CAPS2	84698	broad.mit.edu	37	12	75692714	75692714	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:75692714C>A	ENST00000393284.3	-	10	849	c.248G>T	c.(247-249)gGg>gTg	p.G83V	CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.G315V			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	315							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAAAAAGAACCCAATGAGCTC	0.313000													23	47					1.10513e-12	1.3718e-12	0.624587	1	0
PRKD1	5587	broad.mit.edu	37	14	30066892	30066892	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:30066892G>T	ENST00000331968.5	-	16	2468	c.2239C>A	c.(2239-2241)Ccc>Acc	p.P747T	PRKD1_ENST00000415220.2_Missense_Mutation_p.P755T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGTAAGCGGGGGTACCCACC	0.493000													39	84					7.05121e-23	1.0279e-22	0.853193	1	0
SMAD6	4091	broad.mit.edu	37	15	67073771	67073771	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:67073771C>T	ENST00000288840.5	+	4	2420	c.1389C>T	c.(1387-1389)agC>agT	p.S463S	SMAD6_ENST00000338426.4_Silent_p.S202S	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	463	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						ACCCCAACAGCGTCCGCATCA	0.682000													12	19					0	0	0.479597	0	0
FAM135B	51059	broad.mit.edu	37	8	139380222	139380222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139380222G>A	ENST00000395297.1	-	2	175	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	2										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)			TTGTATTTCAGACATGATCTT	0.363000										HNSCC(54;0.14)			77	99					0	0	0.870114	0	0
PRKCB	5579	broad.mit.edu	37	16	24231346	24231346	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:24231346C>A	ENST00000321728.7	+	17	2103	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	643	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAACTGACCCCCACTGATAAA	0.423000													28	51					4.59853e-10	5.47932e-10	0.693898	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144879382	144879382	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:144879382C>A	ENST00000369359.4	-	30	4514	c.4476G>T	c.(4474-4476)aaG>aaT	p.K1492N	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1492N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1312N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1356					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTTGATGTCCTTTCGTAGGA	0.493000			T	PDGFRB	MPD								74	398					8.07507e-42	1.30914e-41	0.870114	1	0
KMT2D	8085	broad.mit.edu	37	12	49420606	49420606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:49420606C>A	ENST00000301067.7	-	48	15142	c.15143G>T	c.(15142-15144)cGt>cTt	p.R5048L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R4778H(1)									GTTCAGCAGACGGGCAGGCCC	0.617000													32	83					1.49673e-21	2.14679e-21	0.819951	1	0
LILRB1	10859	broad.mit.edu	37	19	55148089	55148089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:55148089C>A	ENST00000396331.1	+	15	2149	c.1792C>A	c.(1792-1794)Cag>Aag	p.Q598K	LILRB1_ENST00000396321.2_Missense_Mutation_p.Q598K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q582K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q600K|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q600K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q582K|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q599K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q649K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q598K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q599K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	598					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGAGGACAGGCAGATGGACAC	0.612000										HNSCC(37;0.09)			10	44					2.27111e-07	2.613e-07	0.411799	1	0
MAPK13	5603	broad.mit.edu	37	6	36104684	36104684	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:36104684G>T	ENST00000211287.4	+	8	901	c.639G>T	c.(637-639)atG>atT	p.M213I	MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Missense_Mutation_p.M203I|MAPK13_ENST00000373759.1_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	213	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GCTGTATCATGGCAGAGATGC	0.527000													45	38					5.34276e-22	7.74627e-22	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113326813	113326813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113326813G>A	ENST00000297405.5	-	48	7638	c.7394C>T	c.(7393-7395)tCt>tTt	p.S2465F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2395F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2361F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2425F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2465	CUB 14.					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						GACTCCAGTAGAATCTAGCCG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	29					0	0	0.788014	0	0
ANLN	54443	broad.mit.edu	37	7	36478884	36478884	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:36478884A>T	ENST00000265748.2	+	21	3176	c.2955A>T	c.(2953-2955)gaA>gaT	p.E985D	ANLN_ENST00000396068.2_Missense_Mutation_p.E948D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	985	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCAGTGTTGAAGAAAGAGGTT	0.308000													16	28					0	0	0.479597	0	0
XIRP2	129446	broad.mit.edu	37	2	168106303	168106303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168106303C>A	ENST00000409195.1	+	9	8490	c.8401C>A	c.(8401-8403)Ccc>Acc	p.P2801T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2579T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2801T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2626					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAGATGGTTCCCAGGAAGCA	0.408000													29	45					1.06801e-11	1.31052e-11	0.740014	1	0
OR2T11	127077	broad.mit.edu	37	1	248790373	248790373	+	Missense_Mutation	SNP	C	C	A	rs148036216	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248790373C>A	ENST00000330803.2	-	1	118	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			TCCCGGCAGCCTCACTGTTCA	0.527000													21	18					2.39187e-15	3.07609e-15	0.575678	1	0
SEMA6D	80031	broad.mit.edu	37	15	48055235	48055235	+	Silent	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:48055235A>T	ENST00000316364.5	+	9	1120	c.681A>T	c.(679-681)atA>atT	p.I227I	SEMA6D_ENST00000354744.4_Silent_p.I227I|SEMA6D_ENST00000389432.2_Silent_p.I227I|SEMA6D_ENST00000389425.3_Silent_p.I227I|SEMA6D_ENST00000558816.1_Silent_p.I227I|SEMA6D_ENST00000358066.4_Silent_p.I227I|SEMA6D_ENST00000558014.1_Silent_p.I227I|SEMA6D_ENST00000536845.2_Silent_p.I227I|SEMA6D_ENST00000537942.1_Silent_p.I227I|SEMA6D_ENST00000389428.3_Silent_p.I227I|SEMA6D_ENST00000355997.3_Silent_p.I227I|SEMA6D_ENST00000389433.2_Silent_p.I227I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	227	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCATGCCATAGAATATGGAA	0.358000													9	43					0	0	0.335167	0	0
HSPG2	3339	broad.mit.edu	37	1	22205106	22205106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:22205106G>A	ENST00000374695.3	-	19	2601	c.2522C>T	c.(2521-2523)gCc>gTc	p.A841V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	841	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGGGCACAGGCGTCACATGT	0.627000													14	21					0	0	0.667858	0	0
BAGE2	85319	broad.mit.edu	37	21	11039369	11039369	+	RNA	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:11039369G>T	ENST00000470054.1	-	0	834									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)		CACTTCAGAAGACATTTTCAT	0.348000													24	441					3.08376e-08	3.57877e-08	0.654019	1	0
TAP2	6891	broad.mit.edu	37	6	32782378	32782378	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:32782378A>T	ENST00000452392.2	-	14	2356	c.2182_splice	c.e14-1	p.V728_splice	HLA-DOB_ENST00000438763.2_Splice_Site_p.V121_splice			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CTCTGGTTGCACTAGGAAGGG	0.493000													117	74					0	0	0.870114	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509368	106509368	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106509368C>A	ENST00000359195.3	+	2	1672	c.1362C>A	c.(1360-1362)tcC>tcA	p.S454S	PIK3CG_ENST00000496166.1_Silent_p.S454S|PIK3CG_ENST00000440650.2_Silent_p.S454S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	454					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTTCTGAGTCCAAGGGCAAAG	0.532000													40	98					1.04594e-18	1.42386e-18	0.819951	1	0
MSL3	10943	broad.mit.edu	37	X	11783734	11783734	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:11783734C>A	ENST00000337339.2	+	9	1084	c.1057C>A	c.(1057-1059)Cgc>Agc	p.R353S	MSL3_ENST00000361672.2_Missense_Mutation_p.R204S|MSL3_ENST00000398527.2_Missense_Mutation_p.R341S|MSL3_ENST00000380693.3_Missense_Mutation_p.R187S|MSL3_ENST00000312196.4_Missense_Mutation_p.R353S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	353					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	p.R353C(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCGGTCCACGCGCCACAGTGC	0.622000													44	42					8.4772e-36	1.33785e-35	0.870114	1	0
ASTN1	460	broad.mit.edu	37	1	176853475	176853475	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853475C>A	ENST00000367654.2	-	19	3263	c.3250_splice	c.e19+1	p.E1084_splice	ASTN1_ENST00000424564.2_Splice_Site_p.E1076_splice|ASTN1_ENST00000367657.3_Splice_Site_p.E1076_splice|ASTN1_ENST00000361833.2_Splice_Site_p.E1076_splice			O14525	ASTN1_HUMAN	astrotactin 1	1084	Fibronectin type-III 1.				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						AGGTGCTCACCTGTCTCCACT	0.493000													43	90					7.70917e-36	1.22024e-35	0.870114	1	0
DAB2	1601	broad.mit.edu	37	5	39377090	39377090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39377090G>A	ENST00000545653.1	-	11	2266	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L	DAB2_ENST00000320816.6_Missense_Mutation_p.P600L|DAB2_ENST00000339788.6_Missense_Mutation_p.P382L|DAB2_ENST00000509337.1_Missense_Mutation_p.P579L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	600					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)			AGCAGGAGCTGGAAAAATATT	0.572000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	147					0	0	0.870114	0	0
GRXCR1	389207	broad.mit.edu	37	4	43022369	43022369	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:43022369A>T	ENST00000399770.2	+	3	627		c.e3-1			NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1						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						TCTCGTTAATAGGGTGCTGAG	0.343000													38	22					0	0	0.796494	0	0
HECW1	23072	broad.mit.edu	37	7	43400528	43400528	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:43400528G>T	ENST00000395891.1	+	6	1109	c.504G>T	c.(502-504)ggG>ggT	p.G168G	HECW1_ENST00000453890.1_Silent_p.G168G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	168					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						GAGTGAGTGGGGCCCTGCGAG	0.478000													28	91					5.45727e-16	7.10374e-16	0.729181	1	0
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:53103940C>T	ENST00000408890.4	+	1	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701000													25	63					0	0	0.740014	0	0
SAMD15	161394	broad.mit.edu	37	14	77845409	77845409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:77845409G>A	ENST00000216471.4	+	1	1934	c.1648G>A	c.(1648-1650)Gtt>Att	p.V550I	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	550	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCAGAGGAAGTTGCAGAGTG	0.428000													33	76					0	0	0.769981	0	0
FOXB2	442425	broad.mit.edu	37	9	79635087	79635087	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:79635087C>A	ENST00000376708.1	+	1	517	c.517C>A	c.(517-519)Ccg>Acg	p.P173T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	173	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|lung(8)|ovary(1)	10						gcccccgccgccgccgcACAT	0.706000													5	10					0.184627	0.18743	0.184627	1	0
LHX4	89884	broad.mit.edu	37	1	180240538	180240538	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:180240538C>G	ENST00000263726.2	+	4	719	c.475C>G	c.(475-477)Cgg>Ggg	p.R159G	RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGGAGCTAAGCGGCCCCGGAC	0.587000													15	97					0	0	0.520397	0	0
MYH11	4629	broad.mit.edu	37	16	15931989	15931989	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:15931989C>G	ENST00000338282.6	-	2	227	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	MYH11_ENST00000576790.1_Missense_Mutation_p.E41Q|MYH11_ENST00000452625.2_Missense_Mutation_p.E41Q|MYH11_ENST00000396324.3_Missense_Mutation_p.E41Q|MYH11_ENST00000300036.5_Missense_Mutation_p.E41Q	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	41	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCTGCTTCTCCGAGGGGACC	0.567000			T	CBFB	AML								38	106					0	0	0.870114	0	0
ZFP90	146198	broad.mit.edu	37	16	68598394	68598394	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:68598394C>T	ENST00000570495.1	+	5	1996	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	ZFP90_ENST00000398253.2_Silent_p.L568L|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.L568L			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTTCATCTCTCATTCAGCATG	0.438000													53	119					0	0	0.870114	0	0
ZNF616	90317	broad.mit.edu	37	19	52620044	52620044	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:52620044G>T	ENST00000600228.1	-	4	634	c.373C>A	c.(373-375)Caa>Aaa	p.Q125K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGACTATGTTGATCTCTTTTA	0.378000													64	165					1.55088e-19	2.15513e-19	0.870114	1	0
NECAB2	54550	broad.mit.edu	37	16	84024099	84024099	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:84024099G>T	ENST00000565691.1	+	4	933	c.210_splice	c.e4-1	p.V71_splice	NECAB2_ENST00000305202.4_Splice_Site_p.V154_splice			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	154	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCTTCCACAGGTATATGAGGG	0.572000													34	63					1.22384e-17	1.62874e-17	0.769981	1	0
OR4D6	219983	broad.mit.edu	37	11	59224522	59224522	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:59224522T>A	ENST00000300127.2	+	1	112	c.89T>A	c.(88-90)gTc>gAc	p.V30D		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TTGTTTGTGGTCTTCTTTGCT	0.463000													92	119					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440148	25440148	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:25440148C>A	ENST00000424208.1	+	0	1460				SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1																						CGCTGAGGCCCAGCCTAGGTG	0.493000													71	154					2.92363e-43	4.78332e-43	0.870114	1	0
CCER1	196477	broad.mit.edu	37	12	91347314	91347314	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:91347314C>G	ENST00000358859.2	-	1	1639	c.1206G>C	c.(1204-1206)caG>caC	p.Q402H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		AGTTAAAGTCCTGTGCCATGA	0.373000													7	111					0	0	0.248553	0	0
ZNF724P	440519	broad.mit.edu	37	19	23406046	23406046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:23406046C>T	ENST00000418100.1	-	4	1118	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AGGTTTATCACCAGTATGAAT	0.368000													4	11					0	0	0.150653	0	0
REG1A	5967	broad.mit.edu	37	2	79349245	79349245	+	Silent	SNP	C	C	A	rs3181912		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:79349245C>A	ENST00000233735.1	+	4	418	c.315C>A	c.(313-315)ccC>ccA	p.P105P		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	105	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCCATGACCCCAAAAAGGTAG	0.488000													27	59					7.26314e-15	9.29613e-15	0.717897	1	0
OR2G6	391211	broad.mit.edu	37	1	248685532	248685532	+	Missense_Mutation	SNP	C	C	A	rs77917888	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248685532C>A	ENST00000343414.4	+	1	617	c.585C>A	c.(583-585)aaC>aaA	p.N195K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGACTTTCAACGAGGCAGAAC	0.473000													20	54					1.5548e-18	2.10587e-18	0.693898	1	0
SEL1L2	80343	broad.mit.edu	37	20	13839934	13839934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:13839934A>G	ENST00000284951.5	-	18	1866	c.1792T>C	c.(1792-1794)Tat>Cat	p.Y598H	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	598						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCGTGTTCATACATATAAGCC	0.403000													27	58					0	0	0.779181	0	0
ZIC1	7545	broad.mit.edu	37	3	147127954	147127954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:147127954G>A	ENST00000282928.4	+	1	784	c.55G>A	c.(55-57)Gcg>Acg	p.A19T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	19					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACCTTTGGCGCGTCCCGCCA	0.741000													15	32					0	0	0.479597	0	0
NME9	347736	broad.mit.edu	37	3	138025304	138025304	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:138025304C>A	ENST00000383180.2	-	8	533	c.296G>T	c.(295-297)tGt>tTt	p.C99F	NME9_ENST00000484930.1_Missense_Mutation_p.C97F|NME9_ENST00000536478.1_Missense_Mutation_p.C99F|NME9_ENST00000333911.3_Missense_Mutation_p.C160F|NME9_ENST00000341790.5_Missense_Mutation_p.C97F|NME9_ENST00000317876.4_Missense_Mutation_p.C99F	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	160	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCCAAGGTACAGGTCCTCTC	0.453000													35	69					4.00102e-26	5.96252e-26	0.819951	1	0
SSTR4	6754	broad.mit.edu	37	20	23017173	23017173	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017173C>A	ENST00000255008.3	+	1	1117	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	351					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCACTGCTCTCAAGAGCAAAG	0.652000													39	59					9.45814e-24	1.39397e-23	0.804634	1	0
EFCAB5	374786	broad.mit.edu	37	17	28380818	28380818	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:28380818C>A	ENST00000394835.3	+	10	2038	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q616K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q560K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q616K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q616K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q273K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	616							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TATTGCAGAACAAGATCGACA	0.468000													43	130					1.22674e-20	1.7455e-20	0.840704	1	0
PLXND1	23129	broad.mit.edu	37	3	129289977	129289977	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:129289977C>T	ENST00000393239.1	-	18	3684	c.3506G>A	c.(3505-3507)cGc>cAc	p.R1169H	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1169H			Q9Y4D7	PLXD1_HUMAN	plexin D1	1169					axon guidance	integral to membrane|intracellular|plasma membrane		p.R1169H(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						GTAGTCCAGGCGGAACCTGCT	0.632000													63	189					0	0	0.870114	0	0
SLIT3	6586	broad.mit.edu	37	5	168244400	168244400	+	Missense_Mutation	SNP	C	C	A	rs151091745		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:168244400C>A	ENST00000519560.1	-	8	1117	c.698G>T	c.(697-699)cGa>cTa	p.R233L	SLIT3_ENST00000332966.8_Missense_Mutation_p.R233L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R233L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	233	LRRCT 1.				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)			AACTGTCCGTCGCTGTCGCAG	0.617000													9	40					1.05317e-09	1.24381e-09	0.457914	1	0
NWD1	284434	broad.mit.edu	37	19	16861004	16861004	+	Silent	SNP	G	G	A	rs148902093		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:16861004G>A	ENST00000524140.2	+	6	1969	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	NWD1_ENST00000552788.1_Silent_p.P517P|NWD1_ENST00000549814.1_Silent_p.P517P|NWD1_ENST00000523826.1_Silent_p.P311P|NWD1_ENST00000379808.3_Silent_p.P517P|NWD1_ENST00000339803.6_Silent_p.P382P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	517	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGCTGAGCCCGGTGCACACAG	0.632000													29	73					0	0	0.729181	0	0
GREB1	9687	broad.mit.edu	37	2	11727549	11727549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:11727549G>C	ENST00000263834.5	+	10	1628	c.1201G>C	c.(1201-1203)Gca>Cca	p.A401P	GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000234142.5_Intron	NM_148903.2	NP_683701.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	0						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ccttggtccggcagaacctgc	0.512000													24	76					0	0	0.654019	0	0
NMNAT1	64802	broad.mit.edu	37	1	10035807	10035807	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:10035807G>T	ENST00000377205.1	+	3	417	c.273G>T	c.(271-273)gaG>gaT	p.E91D	NMNAT1_ENST00000403197.1_Missense_Mutation_p.E91D	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	91					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGAAGGAGTGGAAAGAGA	0.413000													46	103					2.72333e-11	3.29634e-11	0.870114	1	0
GALNT3	2591	broad.mit.edu	37	2	166618451	166618451	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:166618451C>A	ENST00000392701.3	-	4	1577	c.802G>T	c.(802-804)Gca>Tca	p.A268S		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	268	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAGCTGTTGCGACTGTTGCT	0.358000													23	66					4.54149e-19	6.246e-19	0.624587	1	0
SPNS1	83985	broad.mit.edu	37	16	28995109	28995109	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:28995109C>T	ENST00000311008.11	+	11	1700	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SPNS1_ENST00000352260.7_Silent_p.I367I|SPNS1_ENST00000323081.8_Silent_p.I368I|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.I389I|SPNS1_ENST00000565975.1_Silent_p.I486I	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	441					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCCTGCAGATCTCTGACCGCC	0.637000													57	91					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70549883	70549883	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:70549883A>G	ENST00000377844.4	-	2	1308	c.549T>C	c.(547-549)agT>agC	p.S183S	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	183					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCAGAGCTACTGGAGTCCA	0.403000													45	54					0	0	0.870114	0	0
SLC39A10	57181	broad.mit.edu	37	2	196544871	196544871	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:196544871G>A	ENST00000409086.3	+	2	380	c.105G>A	c.(103-105)gcG>gcA	p.A35A	SLC39A10_ENST00000359634.5_Silent_p.A35A|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	35	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCCCTGAAGCGCTTCACAGAC	0.368000													26	46					0	0	0.654019	0	0
FSHR	2492	broad.mit.edu	37	2	49381449	49381449	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:49381449C>G	ENST00000406846.2	-	1	227	c.108G>C	c.(106-108)aaG>aaC	p.K36N	FSHR_ENST00000304421.4_Missense_Mutation_p.K36N|FSHR_ENST00000346173.3_Missense_Mutation_p.K36N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	36	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTCTGTCACCTTGCTCTCTT	0.517000									Gonadal Dysgenesis, 46 XX				26	62					0	0	0.667858	0	0
NDN	4692	broad.mit.edu	37	15	23932095	23932095	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23932095C>T	ENST00000331837.4	-	1	355	c.270G>A	c.(268-270)ccG>ccA	p.P90P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	90					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGGTGCCGGGCCCGGCT	0.706000									Prader-Willi syndrome				16	31					0	0	0.500413	0	0
GBP5	115362	broad.mit.edu	37	1	89726431	89726431	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:89726431C>A	ENST00000343435.5	-	12	2253	c.1717G>T	c.(1717-1719)Gcc>Tcc	p.A573S	GBP5_ENST00000370459.3_Missense_Mutation_p.A573S|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	573						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCTCTGGGCGTGCTGGAGC	0.403000													53	165					4.32865e-36	6.87189e-36	0.870114	1	0
HLA-F	3134	broad.mit.edu	37	6	29691698	29691698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:29691698G>A	ENST00000376861.1	+	3	712	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.E110K|HLA-F_ENST00000259951.7_Missense_Mutation_p.E110K|HLA-F_ENST00000334668.4_Missense_Mutation_p.E110K			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	110	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.E110K(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAACCAGAGCGAGGCTGGTGA	0.677000													8	0					0	0	0.387290	0	0
FSTL5	56884	broad.mit.edu	37	4	162841675	162841675	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841675T>C	ENST00000306100.5	-	4	726	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	FSTL5_ENST00000379164.4_Missense_Mutation_p.Y96C|FSTL5_ENST00000536695.1_Missense_Mutation_p.Y96C|FSTL5_ENST00000427802.2_Missense_Mutation_p.Y96C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	97	Kazal-like.					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)		CACAGGTTTGTAGTGACGTTT	0.433000													49	30					0	0	0.870114	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816488	80816488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80816488A>G	ENST00000466387.1	+	19	2791	c.2067A>G	c.(2065-2067)atA>atG	p.I689M	CTNNA2_ENST00000496558.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I689M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I368M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I723M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I689M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000596887.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	689					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGGTGGAGATATTCCATCAAG	0.493000													22	52					0	0	0.608945	0	0
DCDC1	341019	broad.mit.edu	37	11	30937083	30937083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:30937083G>A	ENST00000597505.1	-	25	3627	c.3628C>T	c.(3628-3630)Cgc>Tgc	p.R1210C	DCDC1_ENST00000339794.5_Missense_Mutation_p.R289C|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTATCCAGCGCTGATGACTA	0.473000													20	61					0	0	0.592651	0	0
MMP14	4323	broad.mit.edu	37	14	23313040	23313040	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:23313040C>T	ENST00000311852.6	+	6	1233	c.972C>T	c.(970-972)gaC>gaT	p.D324D	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	324	Hemopexin-like 1.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GGAACTTTGACACCGTGGCCA	0.557000													51	153					0	0	0.870114	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486219	11486219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:11486219C>G	ENST00000312423.2	+	2	276	c.217C>G	c.(217-219)Cga>Gga	p.R73G		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	73								p.R73R(1)									ACCCTCAACCCGAGAGCTTTT	0.592000													72	182					0	0	0.870114	0	0
ZAN	7455	broad.mit.edu	37	7	100377308	100377308	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100377308C>A	ENST00000542585.1	+	0	6703				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_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)			CTCTGCAAGCCTTCGGGGCCA	0.642000													3	8					0.004672	0.00487236	0.115264	1	0
EFNA5	1946	broad.mit.edu	37	5	106763036	106763036	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:106763036C>A	ENST00000333274.6	-	2	581	c.300G>T	c.(298-300)tgG>tgT	p.W100C	EFNA5_ENST00000509503.1_Missense_Mutation_p.W100C	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	100					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTTACATTCCCATCTCTTGA	0.493000													28	81					3.73808e-20	5.26283e-20	0.693898	1	0
SLC13A1	6561	broad.mit.edu	37	7	122787213	122787213	+	Splice_Site	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:122787213G>A	ENST00000194130.2	-	7	851	c.812_splice	c.e7+1	p.T271_splice	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	271						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGTTACTTACGTATTGAAATA	0.358000													35	37					0	0	0.804634	0	0
WDHD1	11169	broad.mit.edu	37	14	55448358	55448358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:55448358C>A	ENST00000360586.3	-	16	2028	c.1963G>T	c.(1963-1965)Ggt>Tgt	p.G655C	WDHD1_ENST00000420358.2_Missense_Mutation_p.G532C|WDHD1_ENST00000421192.1_Missense_Mutation_p.G532C|WDHD1_ENST00000359167.4_Missense_Mutation_p.G173C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	655						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CACGTATTACCAAGTCCTCTG	0.413000													25	68					3.28513e-13	4.08731e-13	0.667858	1	0
DNAH6	1768	broad.mit.edu	37	2	84784995	84784995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:84784995G>A	ENST00000389394.3	+	11	1876	c.1739G>A	c.(1738-1740)gGg>gAg	p.G580E	DNAH6_ENST00000398278.2_Missense_Mutation_p.G580E|DNAH6_ENST00000237449.6_Missense_Mutation_p.G580E	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	580	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTGGAACTGGGCCAAGTTTA	0.338000													41	98					0	0	0.827153	0	0
PTPN14	5784	broad.mit.edu	37	1	214557726	214557726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214557726C>T	ENST00000366956.5	-	13	1666	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	491					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R491L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTGCCTCTCCCGCATCTCCGG	0.522000													54	193					0	0	0.870114	0	0
LAMA1	284217	broad.mit.edu	37	18	7037668	7037668	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:7037668C>T	ENST00000389658.3	-	12	1739	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	549	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCTGATGGCGCCCGCCTAG	0.547000													180	73					0	0	0.870114	0	0
CX3CL1	6376	broad.mit.edu	37	16	57415980	57415980	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:57415980C>A	ENST00000565912.1	+	2	2822	c.116C>A	c.(115-117)cCg>cAg	p.P39Q	CX3CL1_ENST00000006053.6_Missense_Mutation_p.P77Q|CX3CL1_ENST00000564948.1_Silent_p.R37R|CX3CL1_ENST00000563383.1_Missense_Mutation_p.P83Q			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	77	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGTGCCGACCCGAAGGAGCAA	0.602000													4	85					0.00909568	0.00941236	0.150653	1	0
TRPM4	54795	broad.mit.edu	37	19	49684706	49684706	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:49684706C>T	ENST00000252826.5	+	10	1377	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Silent_p.D417D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	417					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCGGGGGGACATCCAATGGC	0.562000													22	44					0	0	0.608945	0	0
ZBED4	9889	broad.mit.edu	37	22	50279075	50279075	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50279075G>T	ENST00000216268.4	+	2	2242	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	589						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)		CATCAGCCGGGGGAAGAAGCC	0.517000													38	75					2.45108e-15	3.14467e-15	0.840704	1	0
NMUR1	10316	broad.mit.edu	37	2	232390072	232390072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:232390072G>C	ENST00000305141.4	-	3	1096	c.963C>G	c.(961-963)agC>agG	p.S321R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	321					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGACACGACGCTCCACATGA	0.657000													28	64					0	0	0.760397	0	0
CAPZB	832	broad.mit.edu	37	1	19712005	19712005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:19712005G>T	ENST00000264203.3	-	4	780	c.287C>A	c.(286-288)tCc>tAc	p.S96Y	CAPZB_ENST00000401084.2_Missense_Mutation_p.S70Y|CAPZB_ENST00000264202.6_Missense_Mutation_p.S70Y|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375142.1_Missense_Mutation_p.S70Y|CAPZB_ENST00000433834.1_Missense_Mutation_p.S99Y|CAPZB_ENST00000375144.1_Missense_Mutation_p.S58Y			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TCACCTATAGGAGTCCCCATC	0.572000													17	52					9.16793e-09	1.06859e-08	0.520397	1	0
RBM34	23029	broad.mit.edu	37	1	235295239	235295239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:235295239C>T	ENST00000408888.3	-	11	1312	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	RBM34_ENST00000366606.3_Missense_Mutation_p.R356H|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	361	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTAACAGAACGCATGACTCT	0.313000													15	82					0	0	0.457914	0	0
OR2L13	284521	broad.mit.edu	37	1	248262808	248262808	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248262808T>C	ENST00000366478.2	+	3	468	c.131T>C	c.(130-132)aTg>aCg	p.M44T	OR2L13_ENST00000358120.2_Missense_Mutation_p.M44T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AACTCGGCCATGATTCACCTC	0.488000													38	146					0	0	0.788014	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868945	140868945	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140868945G>C	ENST00000252087.1	+	1	138	c.138G>C	c.(136-138)ggG>ggC	p.G46G	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		46	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGGGAATGTTGCTC	0.572000													16	65					0	0	0.479597	0	0
HECW2	57520	broad.mit.edu	37	2	197184265	197184265	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:197184265C>A	ENST00000260983.2	-	9	1531	c.1349G>T	c.(1348-1350)aGt>aTt	p.S450I	HECW2_ENST00000409111.1_Missense_Mutation_p.S94I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	450					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTGGGAAAACTACTCCTCAG	0.498000													24	63					2.21704e-12	2.73298e-12	0.639603	1	0
SLC15A4	121260	broad.mit.edu	37	12	129294620	129294620	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129294620T>C	ENST00000266771.5	-	3	918	c.879A>G	c.(877-879)caA>caG	p.Q293Q	SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	293					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAACAGACTTTGTTTAGAAG	0.393000													46	93					0	0	0.870114	0	0
ZAP70	7535	broad.mit.edu	37	2	98351166	98351166	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:98351166G>T	ENST00000264972.5	+	9	1288	c.1073G>T	c.(1072-1074)cGc>cTc	p.R358L	ZAP70_ENST00000442208.1_Missense_Mutation_p.R232L|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.R51L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	358	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGTGTACCGCATGCGCAAG	0.637000													46	44					1.21353e-23	1.78363e-23	0.870114	1	0
MKI67	4288	broad.mit.edu	37	10	129904753	129904753	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:129904753G>A	ENST00000368654.3	-	13	5726	c.5351C>T	c.(5350-5352)aCa>aTa	p.T1784I	MKI67_ENST00000368653.3_Missense_Mutation_p.T1424I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1784	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGTGTGTGCATGGC	0.468000													86	209					0	0	0.870114	0	0
STAC	6769	broad.mit.edu	37	3	36524549	36524549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:36524549G>A	ENST00000273183.3	+	3	754	c.454G>A	c.(454-456)Gat>Aat	p.D152N	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	152					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAAGTGCACAGATGGCCTGGC	0.557000													22	62					0	0	0.681144	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908268	139908268	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:139908268C>T	ENST00000297183.6	+	29	5861	c.5737C>T	c.(5737-5739)Cta>Tta	p.L1913L	ANKHD1_ENST00000544120.1_Silent_p.L296L|ANKHD1_ENST00000360839.2_Silent_p.L1913L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L1913L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGCCGTCTACCTAACCA	0.488000													28	48					0	0	0.729181	0	0
PGLS	25796	broad.mit.edu	37	19	17631872	17631872	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:17631872G>A	ENST00000252603.2	+	5	803	c.759G>A	c.(757-759)gaG>gaA	p.E253E		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	253						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						TGCCCTTCGAGAAGCATTCCA	0.701000													5	11					0	0	0.278610	0	0
CEP170B	283638	broad.mit.edu	37	14	105353169	105353169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105353169C>T	ENST00000453495.1	+	12	2824	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	CEP170B_ENST00000414716.3_Missense_Mutation_p.R865W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R795W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R795W					centrosomal protein 170B																		AGCCTTTCTCCGGCAAGAGAG	0.652000													4	41					0	0	0.217242	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775986	77775986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:77775986C>G	ENST00000521891.2	+	11	10484	c.10036C>G	c.(10036-10038)Cag>Gag	p.Q3346E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3320E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3297E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3301E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3297						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)			gAAACCAGTTCAGGCAAAGAC	0.463000										HNSCC(33;0.089)			3	3					0	0	0.115264	0	0
GPX4	2879	broad.mit.edu	37	19	1105707	1105707	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:1105707C>G	ENST00000354171.8	+	4	482	c.375C>G	c.(373-375)gtC>gtG	p.V125V	GPX4_ENST00000589115.1_Silent_p.V125V	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	125					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		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;0.000172)|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)	Glutathione(DB00143)	GCTACAACGTCAAATTCGATA	0.587000													8	15					0	0	0.361761	0	0
EFNA5	1946	broad.mit.edu	37	5	106763037	106763037	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:106763037C>A	ENST00000333274.6	-	2	580	c.299G>T	c.(298-300)tGg>tTg	p.W100L	EFNA5_ENST00000509503.1_Missense_Mutation_p.W100L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	100					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GTTACATTCCCATCTCTTGAA	0.493000													28	80					3.73808e-20	5.26283e-20	0.693898	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37462243	37462243	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37462243G>A	ENST00000381792.2	-	19	2492	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	TMPRSS6_ENST00000346753.3_Silent_p.L771L|TMPRSS6_ENST00000406725.1_Silent_p.L762L|TMPRSS6_ENST00000406856.1_Silent_p.L784L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	771	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCGGCCACTGAGTGCCTTGC	0.622000													12	28					0	0	0.575678	0	0
RALYL	138046	broad.mit.edu	37	8	85799925	85799925	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:85799925C>A	ENST00000521268.1	+	8	1877	c.772C>A	c.(772-774)Cct>Act	p.P258T	RALYL_ENST00000518566.1_Missense_Mutation_p.P247T|RALYL_ENST00000517638.1_Missense_Mutation_p.P271T|RALYL_ENST00000522455.1_Missense_Mutation_p.P258T|RALYL_ENST00000521695.1_Missense_Mutation_p.P258T|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Missense_Mutation_p.P185T	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							identical protein binding|nucleotide binding|RNA binding	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TACAGAGGAGCCTGCTGAAGG	0.512000													85	79					5.14759e-42	8.3707e-42	0.870114	1	0
CELSR1	9620	broad.mit.edu	37	22	46930098	46930098	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:46930098C>A	ENST00000262738.3	-	1	2969	c.2970G>T	c.(2968-2970)ttG>ttT	p.L990F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L990F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	990	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTAATGTCCAAGATGGTCA	0.547000													47	90					8.04919e-23	1.17019e-22	0.870114	1	0
DNAH5	1767	broad.mit.edu	37	5	13865914	13865914	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13865914C>A	ENST00000265104.4	-	27	4322	c.4218G>T	c.(4216-4218)aaG>aaT	p.K1406N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1406N(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)					TTAGTTGCTTCTTTATTTCAA	0.343000									Kartagener syndrome				40	75					1.96642e-18	2.64996e-18	0.827153	1	0
EPB41L1	2036	broad.mit.edu	37	20	34778267	34778267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:34778267G>T	ENST00000338074.2	+	10	1256	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	EPB41L1_ENST00000441639.1_Missense_Mutation_p.K303N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.K365N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.K334N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.K268N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.K303N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	365	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACTGTGGAAGGTCTGCATCG	0.542000													9	28					0.000442599	0.000467966	0.335167	1	0
COL24A1	255631	broad.mit.edu	37	1	86591713	86591713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:86591713C>A	ENST00000370571.2	-	3	672	c.306G>T	c.(304-306)ttG>ttT	p.L102F	COL24A1_ENST00000436319.1_Missense_Mutation_p.L102F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	102	TSP N-terminal.				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)		ACGGCTGCCCCAAGTTGACTG	0.388000													39	76					2.2871e-25	3.38946e-25	0.834066	1	0
DOCK7	85440	broad.mit.edu	37	1	62954718	62954718	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:62954718C>A	ENST00000251157.5	-	42	5386	c.5353G>T	c.(5353-5355)Gtt>Ttt	p.V1785F	DOCK7_ENST00000340370.5_Missense_Mutation_p.V1763F	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1794	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTTCATTAACTGCTTCATAC	0.299000													16	47					4.14922e-12	5.10306e-12	0.500413	1	0
DPPA4	55211	broad.mit.edu	37	3	109049520	109049520	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:109049520G>T	ENST00000335658.6	-	5	584	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	177						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTCCAGGGCAGGCGGCTCCCC	0.512000													43	105					8.20599e-20	1.14328e-19	0.859065	1	0
MTHFD1	4522	broad.mit.edu	37	14	64891613	64891613	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:64891613C>T	ENST00000555709.1	+	9	1206	c.819C>T	c.(817-819)ggC>ggT	p.G273G	MTHFD1_ENST00000545908.1_Silent_p.G329G|MTHFD1_ENST00000216605.7_Silent_p.G329G|MTHFD1_ENST00000555252.1_Silent_p.G253G|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	273	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTGTTCCTGGCGGCGTAGGGC	0.458000													20	56					0	0	0.592651	0	0
UNC79	57578	broad.mit.edu	37	14	94100936	94100936	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:94100936T>A	ENST00000553484.1	+	33	6006	c.5852T>A	c.(5851-5853)cTg>cAg	p.L1951Q	UNC79_ENST00000555664.1_Intron|UNC79_ENST00000393151.2_Missense_Mutation_p.L1929Q|UNC79_ENST00000256339.4_Missense_Mutation_p.L1752Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1929						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCGGCAGCTGGAGCATCAG	0.468000													33	82					0	0	0.812448	0	0
SPRED1	161742	broad.mit.edu	37	15	38591587	38591587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:38591587C>T	ENST00000299084.4	+	2	906	c.46C>T	c.(46-48)Cga>Tga	p.R16*	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	16	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGTTATGCACGAGTGCGAGC	0.438000									Legius syndrome				30	62					0	0	0.740014	0	0
ZNF676	163223	broad.mit.edu	37	19	22363538	22363538	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22363538G>T	ENST00000397121.2	-	3	1298	c.981C>A	c.(979-981)caC>caA	p.H327Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAATTCTCTTGTGTTCAGTAA	0.403000													6	164					2.70639e-06	3.06114e-06	0.624587	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20488829	20488829	+	RNA	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:20488829T>C	ENST00000555186.1	+	0	312					NR_038836.1																						CCTGCTTGGCTCCTGAAGTTC	0.418000													19	134					0	0	0.592651	0	0
POLD1	5424	broad.mit.edu	37	19	50919882	50919882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:50919882G>A	ENST00000440232.2	+	24	3022	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H	POLD1_ENST00000595904.1_Missense_Mutation_p.R1016H|POLD1_ENST00000599857.1_Missense_Mutation_p.R990H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	990					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)		GACCACACGCGCTGCAAGACG	0.706000								DNA polymerases (catalytic subunits)					3	7					0	0	0.150653	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7976	7976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrM:7976G>A	ENST00000361739.1	+	1	391	c.391G>A	c.(391-393)Ggc>Agc	p.G131S						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TCCTAGAACCAGGCGACCTGC	0.468000													59	9					0	0	0.870114	0	0
FOXN4	121643	broad.mit.edu	37	12	109723196	109723196	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:109723196G>T	ENST00000299162.5	-	8	918	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	FOXN4_ENST00000355216.1_Missense_Mutation_p.L92M	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	272					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			large_intestine(5)|lung(9)|ovary(2)	16						ATGCGGGCCAGGTTCAGAGCC	0.607000													16	31					0.00074312	0.000781079	0.539581	1	0
ABCA9	10350	broad.mit.edu	37	17	67025355	67025355	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:67025355T>C	ENST00000340001.4	-	11	1670	c.1459A>G	c.(1459-1461)Aaa>Gaa	p.K487E	ABCA9_ENST00000370732.2_Missense_Mutation_p.K487E|ABCA9_ENST00000453985.2_Missense_Mutation_p.K487E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	487	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATTCTTTTTTAAGATTTTTG	0.328000													23	36					0	0	0.693898	0	0
MST1L	11223	broad.mit.edu	37	1	17084550	17084550	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:17084550C>A	ENST00000455405.2	-	0	339																											ACAGGGTGCCCAACCATACCT	0.582000													11	92					1.05317e-09	1.24381e-09	0.457914	1	0
DNAH8	1769	broad.mit.edu	37	6	38877379	38877379	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:38877379G>T	ENST00000359357.3	+	63	9202	c.8948G>T	c.(8947-8949)aGg>aTg	p.R2983M	DNAH8_ENST00000449981.2_Missense_Mutation_p.R3200M|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2947M					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						CGCTGGCCAAGGGAGGCTCTG	0.448000													63	49					3.82636e-28	5.73418e-28	0.870114	1	0
VWC2L	402117	broad.mit.edu	37	2	215279018	215279018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215279018G>A	ENST00000312504.5	+	2	903	c.101G>A	c.(100-102)gGt>gAt	p.G34D	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.G34D	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	34						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GCTGATGAAGGTGACCAGATC	0.448000													28	55					0	0	0.740014	0	0
S1PR3	1903	broad.mit.edu	37	9	91616672	91616672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:91616672C>T	ENST00000375846.3	+	1	5252	c.557C>T	c.(556-558)tCt>tTt	p.S186F	S1PR3_ENST00000358157.2_Missense_Mutation_p.S186F			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	186					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CCTGACTGCTCTACCATCCTG	0.577000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	67					0	0	0.681144	0	0
TRIM58	25893	broad.mit.edu	37	1	248039216	248039216	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248039216G>T	ENST00000366481.3	+	6	934	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	296	B30.2/SPRY.					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)			TGTAAAGCTGGATCCCGCCAC	0.542000													9	61					1.12685e-05	1.24559e-05	0.307466	1	0
ZNF280A	129025	broad.mit.edu	37	22	22869368	22869368	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22869368A>C	ENST00000302097.3	-	2	839	c.587T>G	c.(586-588)gTc>gGc	p.V196G		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	196					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)		ATCTGAAGGGACCACAGCTAA	0.438000													18	182					0	0	0.520397	0	0
PCLO	27445	broad.mit.edu	37	7	82457236	82457236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:82457236G>T	ENST00000423517.2	-	17	14633	c.14296C>A	c.(14296-14298)Cct>Act	p.P4766T	PCLO_ENST00000333891.8_Missense_Mutation_p.P4766T|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4628					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						TTCCACTCAGGATTAAGACTT	0.333000													6	22					0.248553	0.251372	0.248553	1	0
DOCK8	81704	broad.mit.edu	37	9	312083	312083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:312083G>A	ENST00000432829.2	+	6	770	c.454G>A	c.(454-456)Gag>Aag	p.E152K	DOCK8_ENST00000469391.1_Missense_Mutation_p.E152K|DOCK8_ENST00000453981.1_Missense_Mutation_p.E220K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	220					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGAGTGCCGAGGACTTTGA	0.597000													56	95					0	0	0.870114	0	0
DAB2	1601	broad.mit.edu	37	5	39381569	39381569	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39381569G>T	ENST00000545653.1	-	10	1958	c.1428C>A	c.(1426-1428)ccC>ccA	p.P476P	DAB2_ENST00000320816.6_Silent_p.P497P|DAB2_ENST00000339788.6_Silent_p.P279P|DAB2_ENST00000509337.1_Silent_p.P476P	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	497					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)			GACCCACCAGGGGCCCCACTG	0.507000													57	174					3.40165e-17	4.50467e-17	0.870114	1	0
GIGYF1	64599	broad.mit.edu	37	7	100280797	100280797	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100280797C>G	ENST00000275732.5	-	19	3459	c.2250G>C	c.(2248-2250)gtG>gtC	p.V750V		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	750										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGCGGGGGGCACAGGGACCG	0.677000													8	18					0	0	0.361761	0	0
RELN	5649	broad.mit.edu	37	7	103290782	103290782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:103290782G>T	ENST00000428762.1	-	16	2100	c.1941C>A	c.(1939-1941)aaC>aaA	p.N647K	RELN_ENST00000343529.5_Missense_Mutation_p.N647K|RELN_ENST00000424685.2_Missense_Mutation_p.N647K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	647					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)		GAATCCTGGTGTTCCGGGTTA	0.423000													23	80					3.28513e-13	4.08731e-13	0.667858	1	0
FILIP1	27145	broad.mit.edu	37	6	76124636	76124636	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:76124636C>A	ENST00000393004.2	-	2	274	c.53G>T	c.(52-54)tGt>tTt	p.C18F	FILIP1_ENST00000237172.7_Missense_Mutation_p.C18F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	18										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGGCTTGGGACAGGAGATATG	0.423000													62	78					1.08141e-31	1.65301e-31	0.870114	1	0
TAS2R43	259289	broad.mit.edu	37	12	11244286	11244286	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11244286C>T	ENST00000531678.1	-	1	626	c.543G>A	c.(541-543)atG>atA	p.M181I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	181					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTTTGCTACCATGGTTACAG	0.368000													59	50					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149473575	149473575	+	RNA	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:149473575G>A	ENST00000378016.2	+	0	191							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)			GGCCGCTCGGGGCTTACCCGG	0.662000													4	6					0	0	0.217242	0	0
SLC39A4	55630	broad.mit.edu	37	8	145642057	145642057	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:145642057C>A	ENST00000301305.3	-	1	222	c.117G>T	c.(115-117)ctG>ctT	p.L39L		NM_130849.2	NP_570901.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	39						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTCTTGATCCAGAGCGCCCT	0.682000													15	11					2.31682e-05	2.53996e-05	0.479597	1	0
RIMS2	9699	broad.mit.edu	37	8	105105870	105105870	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:105105870A>T	ENST00000436393.2	+	21	3134	c.2894_splice	c.e21+1	p.R965_splice	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	410					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)			CAAGAAAATCAGGTAAGGGGA	0.368000										HNSCC(12;0.0054)			50	28					0	0	0.870114	0	0
CHD3	1107	broad.mit.edu	37	17	7806008	7806008	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7806008G>A	ENST00000380358.4	+	21	3511	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	CHD3_ENST00000358181.4_Silent_p.T1111T|CHD3_ENST00000330494.7_Silent_p.T1111T	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1111	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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGGTATCACGGGTGCCCTGA	0.507000													96	49					0	0	0.870114	0	0
PTPN14	5784	broad.mit.edu	37	1	214542973	214542973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214542973G>C	ENST00000366956.5	-	17	3292	c.3098C>G	c.(3097-3099)gCc>gGc	p.A1033G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1033	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCATAGGTGGCTGAGCTGTG	0.468000													61	240					0	0	0.870114	0	0
GRIA4	2893	broad.mit.edu	37	11	105623920	105623920	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:105623920T>C	ENST00000393127.2	+	4	907	c.461T>C	c.(460-462)tTt>tCt	p.F154S	GRIA4_ENST00000393125.2_Missense_Mutation_p.F154S|GRIA4_ENST00000530497.1_Missense_Mutation_p.F154S|GRIA4_ENST00000525187.1_Missense_Mutation_p.F154S|GRIA4_ENST00000282499.5_Missense_Mutation_p.F154S|GRIA4_ENST00000428631.2_Missense_Mutation_p.F154S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	154					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)	TGGAACTGTTTTGTCTTCCTG	0.433000													46	58					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179462734	179462734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179462734C>A	ENST00000589042.1	-	293	57387	c.57163G>T	c.(57163-57165)Gaa>Taa	p.E19055*	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E17414*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16487*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10182*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E9990*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10115*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17414	Fibronectin type-III 38.						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)			AATGCTCCTTCCTTTAATCCT	0.388000													66	187					1.98135e-44	3.25161e-44	0.870114	1	0
COL6A2	1292	broad.mit.edu	37	21	47537349	47537349	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:47537349G>A	ENST00000300527.4	+	11	1139	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	COL6A2_ENST00000397763.1_Silent_p.K345K|COL6A2_ENST00000409416.1_Silent_p.K345K|COL6A2_ENST00000310645.5_Silent_p.K345K|COL6A2_ENST00000357838.4_Silent_p.K345K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	345	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCTGCAAGGGAGACCCTG	0.672000													15	44					0	0	0.520397	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891219	4891219	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:4891219G>C	ENST00000381781.2	-	3	867	c.868C>G	c.(868-870)Cac>Gac	p.H290D		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	290					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TAGCGAGTGTGCATGATCTCA	0.612000													68	159					0	0	0.870114	0	0
KNDC1	85442	broad.mit.edu	37	10	135011840	135011840	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:135011840G>T	ENST00000304613.3	+	13	1927		c.e13-1		KNDC1_ENST00000368571.2_Splice_Site|KNDC1_ENST00000368572.2_Splice_Site			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGCTCCCCAGGCTTCCTGCC	0.721000													5	9					8.12818e-05	8.80279e-05	0.248553	1	0
KMT2D	8085	broad.mit.edu	37	12	49420595	49420595	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:49420595G>A	ENST00000301067.7	-	48	15153	c.15154C>T	c.(15154-15156)Ctg>Ttg	p.L5052L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCAGGTCCAGGTTCAGCAGA	0.617000													32	82					0	0	0.796494	0	0
PIK3CG	5294	broad.mit.edu	37	7	106507993	106507993	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106507993A>T	ENST00000359195.3	+	2	298		c.e2-1		PIK3CG_ENST00000496166.1_Splice_Site|PIK3CG_ENST00000440650.2_Splice_Site	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma						G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCGCTCCCAGGTCGCATAG	0.567000													37	101					0	0	0.796494	0	0
ELFN2	114794	broad.mit.edu	37	22	37769436	37769436	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37769436G>A	ENST00000402918.1	-	3	2924	c.2139C>T	c.(2137-2139)ccC>ccT	p.P713P	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.P713P	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTACAGGGCGGGAAAGCTGT	0.706000													7	13					0	0	0.248553	0	0
SSTR4	6754	broad.mit.edu	37	20	23017264	23017264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017264C>T	ENST00000255008.3	+	1	1208	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	382					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGCATCCCCCTCACCAGGAC	0.657000													40	88					0	0	0.840704	0	0
APOB	338	broad.mit.edu	37	2	21230877	21230877	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:21230877T>C	ENST00000233242.1	-	26	8990	c.8863A>G	c.(8863-8865)Act>Gct	p.T2955A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2955					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAAAGGAAGTGAGGGGTCCT	0.413000													79	178					0	0	0.870114	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069727	114069727	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:114069727G>T	ENST00000462705.1	-	11	1800	c.979C>A	c.(979-981)Cgg>Agg	p.R327R	ZBTB20_ENST00000474710.1_Silent_p.R400R|ZBTB20_ENST00000481632.1_Silent_p.R327R|ZBTB20_ENST00000393785.2_Silent_p.R327R|ZBTB20_ENST00000357258.3_Silent_p.R327R|ZBTB20_ENST00000471418.1_Silent_p.R327R|ZBTB20_ENST00000464560.1_Silent_p.R327R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGCTGTCCCGCGCCGCCCCA	0.647000													35	71					3.76114e-14	4.76826e-14	0.796494	1	0
SLITRK3	22865	broad.mit.edu	37	3	164907542	164907542	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:164907542G>C	ENST00000475390.1	-	2	1520	c.1077C>G	c.(1075-1077)ccC>ccG	p.P359P	SLITRK3_ENST00000241274.3_Silent_p.P359P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	359						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						AAGGAGCAATGGGAGGCTGGT	0.502000										HNSCC(40;0.11)			68	188					0	0	0.870114	0	0
DPP10	57628	broad.mit.edu	37	2	116599915	116599915	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:116599915T>A	ENST00000410059.1	+	26	2865	c.2385T>A	c.(2383-2385)gaT>gaA	p.D795E	DPP10_ENST00000393147.2_Missense_Mutation_p.D799E|DPP10_ENST00000409163.1_Missense_Mutation_p.D745E|DPP10_ENST00000310323.8_Missense_Mutation_p.D788E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	795					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGAAGAAGATGAATAATGGA	0.383000													31	50					0	0	0.740014	0	0
P2RX3	5024	broad.mit.edu	37	11	57114095	57114095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:57114095G>T	ENST00000263314.2	+	2	231	c.197G>T	c.(196-198)gGc>gTc	p.G66V		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	66					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AAGGTGAAGGGCTCCGGACTC	0.547000													92	41					4.37026e-21	6.25157e-21	0.870114	1	0
CBX8	57332	broad.mit.edu	37	17	77768668	77768668	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:77768668G>T	ENST00000269385.4	-	5	1053	c.936C>A	c.(934-936)ggC>ggA	p.G312G		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	312					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTGGGGGGGCCTGAGCCAT	0.692000													15	24					1.49906e-05	1.64681e-05	0.457914	1	0
LPHN3	23284	broad.mit.edu	37	4	62813846	62813846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62813846G>A	ENST00000512091.1	+	16	3200	c.2453G>A	c.(2452-2454)tGt>tAt	p.C818Y	LPHN3_ENST00000506720.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.C818Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	805	GPS.				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						AACCCTAACTGTTCATTTTGG	0.378000													35	21					0	0	0.812448	0	0
ITGB8	3696	broad.mit.edu	37	7	20449331	20449331	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:20449331A>T	ENST00000222573.3	+	13	2801	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L	ITGB8_ENST00000537992.1_Missense_Mutation_p.Q571L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	706					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATCATTAGACAGGTGATACTA	0.338000													57	127					0	0	0.870114	0	0
C8orf34	116328	broad.mit.edu	37	8	69633639	69633639	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:69633639C>A	ENST00000337103.4	+	9	2630	c.1038C>A	c.(1036-1038)gaC>gaA	p.D346E	C8orf34_ENST00000325233.3_Missense_Mutation_p.D115E|C8orf34_ENST00000539993.1_Missense_Mutation_p.D371E|C8orf34_ENST00000518698.1_Missense_Mutation_p.D457E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	371					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)			AGGAGGGTGACGAATTTGAGA	0.284000													31	36					8.16277e-20	1.14023e-19	0.827153	1	0
PRB1	5542	broad.mit.edu	37	12	11506795	11506795	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506795G>T	ENST00000500254.2	-	3	279	c.242C>A	c.(241-243)cCc>cAc	p.P81H	PRB1_ENST00000546254.1_Missense_Mutation_p.P81H|PRB1_ENST00000545626.1_Missense_Mutation_p.P81H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	264	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCCTTGTGGGGGTGGTCCTTG	0.627000													156	364					3.95789e-20	5.55767e-20	0.870114	1	0
CLCN1	1180	broad.mit.edu	37	7	143028713	143028713	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:143028713G>A	ENST00000343257.2	+	10	1221	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	378					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGTCCGAAAGCACAAGGCCC	0.478000													37	93					0	0	0.827153	0	0
NES	10763	broad.mit.edu	37	1	156639196	156639196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:156639196G>A	ENST00000368223.3	-	4	4916	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1595	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)					CAGGTGAACAGGAGCCCCTGC	0.597000													38	79					0	0	0.804634	0	0
ALOX15B	247	broad.mit.edu	37	17	7943265	7943265	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7943265G>T	ENST00000380183.4	+	3	552	c.413G>T	c.(412-414)cGc>cTc	p.R138L	ALOX15B_ENST00000572022.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R138L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	138	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CAGCAACAGCGCCAGGAGGAG	0.612000													46	46					6.60958e-23	9.66154e-23	0.870114	1	0
WNK1	65125	broad.mit.edu	37	12	993327	993327	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:993327G>A	ENST00000537687.1	+	18	5185	c.4542G>A	c.(4540-4542)gcG>gcA	p.A1514A	WNK1_ENST00000340908.4_Silent_p.A847A|WNK1_ENST00000535572.1_Silent_p.A1007A|WNK1_ENST00000530271.2_Silent_p.A1752A|WNK1_ENST00000315939.6_Silent_p.A1254A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1254					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCATTCTGCGGGAAGGCGGT	0.373000													62	137					0	0	0.870114	0	0
ASTN1	460	broad.mit.edu	37	1	176853589	176853589	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853589G>C	ENST00000367654.2	-	19	3149	c.3136C>G	c.(3136-3138)Ctt>Gtt	p.L1046V	ASTN1_ENST00000424564.2_Missense_Mutation_p.L1038V|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1038V|ASTN1_ENST00000361833.2_Missense_Mutation_p.L1038V			O14525	ASTN1_HUMAN	astrotactin 1	1046	Fibronectin type-III 1.				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						AGGACCACAAGAGTGCTGCTG	0.542000													36	64					0	0	0.812448	0	0
LEPRE1	64175	broad.mit.edu	37	1	43228142	43228142	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:43228142T>C	ENST00000236040.4	-	2	510	c.470A>G	c.(469-471)aAc>aGc	p.N157S	LEPRE1_ENST00000397054.3_Missense_Mutation_p.N157S|LEPRE1_ENST00000296388.5_Missense_Mutation_p.N157S	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	157					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCAACTTGTTGATCTAAGA	0.458000													46	92					0	0	0.870114	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	55					0	0	0.184627	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929371	40929371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:40929371G>A	ENST00000357949.4	-	2	241	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTGTGGCCAGGATCTAGCCA	0.627000													12	50					0	0	0.435327	0	0
OR4C46	119749	broad.mit.edu	37	11	51515641	51515641	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:51515641C>T	ENST00000328188.1	+	1	360	c.360C>T	c.(358-360)caC>caT	p.H120H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTATGACCACTATGTGGCCA	0.488000													60	88					0	0	0.870114	0	0
PBK	55872	broad.mit.edu	37	8	27668593	27668593	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27668593C>T	ENST00000301905.4	-	7	1117	c.654G>A	c.(652-654)gtG>gtA	p.V218V	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Silent_p.V229V	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	218	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CATTCTCCTCCACAGCTTCTT	0.428000													26	30					0	0	0.681144	0	0
OR4X2	119764	broad.mit.edu	37	11	48267094	48267094	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:48267094C>T	ENST00000302329.3	+	1	487	c.439C>T	c.(439-441)Cat>Tat	p.H147Y		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTTCATGCATTCCTTTGC	0.498000													68	129					0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141719028	141719028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:141719028G>A	ENST00000475668.2	+	4	411	c.357G>A	c.(355-357)tgG>tgA	p.W119*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.W119*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	119	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGTTGCTGGAATCCCCAGG	0.448000													38	112					0	0	0.819951	0	0
ERCC2	2068	broad.mit.edu	37	19	45872213	45872213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:45872213G>T	ENST00000391945.4	-	4	298	c.221C>A	c.(220-222)tCa>tAa	p.S74*	ERCC2_ENST00000391940.4_Nonsense_Mutation_p.S50*|ERCC2_ENST00000221481.6_Nonsense_Mutation_p.S74*|ERCC2_ENST00000391944.3_Nonsense_Mutation_p.S74*|ERCC2_ENST00000485403.2_Nonsense_Mutation_p.S50*	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	74	Helicase ATP-binding.				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)		CACAGTTCTTGAGCAGTAGAT	0.582000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				29	75					4.22769e-11	5.09418e-11	0.706142	1	0
COL11A1	1301	broad.mit.edu	37	1	103343706	103343706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:103343706C>A	ENST00000358392.2	-	67	5643	c.5326G>T	c.(5326-5328)Gaa>Taa	p.E1776*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1648*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1764*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1725*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1764	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)		ACAGTCTTTTCATAGCCTTTT	0.303000													12	57					3.07112e-06	3.45178e-06	0.387290	1	0
USH2A	7399	broad.mit.edu	37	1	216258096	216258096	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:216258096T>G	ENST00000366943.2	-	25	5497	c.5111A>C	c.(5110-5112)aAc>aCc	p.N1704T	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1704T|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1704	Laminin G-like 1.				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)		CTCCCAGCTGTTATACACGTT	0.418000										HNSCC(13;0.011)			25	134					0	0	0.654019	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17169081	17169081	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:17169081G>C	ENST00000265970.7	-	5	1542	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q135E	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	515					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCCAGATTTTGACACATTGCA	0.358000													15	43					0	0	0.500413	0	0
SYT10	341359	broad.mit.edu	37	12	33538213	33538213	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:33538213A>C	ENST00000228567.3	-	4	1387	c.1091T>G	c.(1090-1092)cTg>cGg	p.L364R	SYT10_ENST00000535526.1_Missense_Mutation_p.L183R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	364						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)					GATTTCACCCAGGTCTATACT	0.398000													15	40					0	0	0.500413	0	0
CDC5L	988	broad.mit.edu	37	6	44392275	44392275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:44392275T>A	ENST00000371477.3	+	11	1823	c.1524T>A	c.(1522-1524)gaT>gaA	p.D508E		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	508	Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAAATAGATGATACTTACA	0.453000													4	73					0	0	0.150653	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433074	73433074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:73433074C>A	ENST00000263666.4	-	10	2757	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	PDZRN3_ENST00000535920.1_Missense_Mutation_p.Q603H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.Q538H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Q538H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Q598H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	881							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)		GCATGTAGCTCTGGTAGTGCT	0.642000													29	69					7.6516e-34	1.19e-33	0.750413	1	0
PTK2B	2185	broad.mit.edu	37	8	27311740	27311740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27311740C>T	ENST00000397501.1	+	34	3473	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	PTK2B_ENST00000338238.4_Missense_Mutation_p.R847W|PTK2B_ENST00000346049.5_Missense_Mutation_p.R889W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R847W|PTK2B_ENST00000544172.1_Missense_Mutation_p.R889W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R847W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	889	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAGCTGGTGCGGGCCGTGCT	0.622000													30	26					0	0	0.729181	0	0
ZNF536	9745	broad.mit.edu	37	19	31025860	31025860	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:31025860T>C	ENST00000355537.3	+	3	2424	c.2277T>C	c.(2275-2277)acT>acC	p.T759T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	759					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)					GTGGGAAAACTTTCCGGACAT	0.612000													49	109					0	0	0.870114	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874048	48874048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48874048G>A	ENST00000394754.1	+	8	3071	c.2957G>A	c.(2956-2958)aGc>aAc	p.S986N	LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S986N|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S282N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S986N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S986N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S248N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S939N	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		939					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTCCACAAGCCCTCATGGG	0.428000													23	59					0	0	0.681144	0	0
RALYL	138046	broad.mit.edu	37	8	85799926	85799926	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:85799926C>A	ENST00000521268.1	+	8	1878	c.773C>A	c.(772-774)cCt>cAt	p.P258H	RALYL_ENST00000518566.1_Missense_Mutation_p.P247H|RALYL_ENST00000517638.1_Missense_Mutation_p.P271H|RALYL_ENST00000522455.1_Missense_Mutation_p.P258H|RALYL_ENST00000521695.1_Missense_Mutation_p.P258H|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Missense_Mutation_p.P185H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							identical protein binding|nucleotide binding|RNA binding	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACAGAGGAGCCTGCTGAAGGA	0.512000													84	79					1.11057e-38	1.77891e-38	0.870114	1	0
MARCH11	441061	broad.mit.edu	37	5	16067854	16067854	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:16067854C>A	ENST00000332432.8	-	4	1134	c.935G>T	c.(934-936)tGg>tTg	p.W312L		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	312						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACAGCTCGCCAGCGCTTAAA	0.428000													21	40					2.39187e-15	3.07609e-15	0.575678	1	0
LRP1B	53353	broad.mit.edu	37	2	141359046	141359046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:141359046T>C	ENST00000389484.3	-	42	7933	c.6962A>G	c.(6961-6963)cAt>cGt	p.H2321R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2321					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTAGCACATGTGGATGGTC	0.403000										TSP Lung(27;0.18)			15	45					0	0	0.575678	0	0
BACH1	571	broad.mit.edu	37	21	30693704	30693704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:30693704G>T	ENST00000399921.1	+	2	346	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	BACH1_ENST00000286800.3_Missense_Mutation_p.D35Y	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	35	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGTGCTGTGCGATGTCACCAT	0.522000													52	159					1.66251e-12	2.05413e-12	0.870114	1	0
MOXD1	26002	broad.mit.edu	37	6	132713397	132713397	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:132713397C>A	ENST00000392401.3	-	2	354	c.306G>T	c.(304-306)aaG>aaT	p.K102N	MOXD1_ENST00000367963.3_Intron			Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	0	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCTGAAGACACTTCGCATCAC	0.448000													9	19					0.000274275	0.000290569	0.307466	1	0
SYNE1	23345	broad.mit.edu	37	6	152665308	152665308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152665308G>T	ENST00000367255.5	-	74	12734	c.12133C>A	c.(12133-12135)Ctg>Atg	p.L4045M	SYNE1_ENST00000423061.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3910M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4045M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4045					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)		CACTGCTGCAGGGTGTCTTGT	0.493000										HNSCC(10;0.0054)			111	84					1.472e-32	2.27606e-32	0.870114	1	0
MYOZ3	91977	broad.mit.edu	37	5	150056389	150056389	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150056389A>T	ENST00000297130.4	+	7	907	c.708A>T	c.(706-708)agA>agT	p.R236S	MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236S|MYOZ3_ENST00000520112.1_Missense_Mutation_p.S153C	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCAACAGAGTGGCCCAGG	0.637000													35	81					0	0	0.788014	0	0
FSTL5	56884	broad.mit.edu	37	4	162841665	162841665	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841665C>A	ENST00000306100.5	-	4	736	c.300G>T	c.(298-300)gtG>gtT	p.V100V	FSTL5_ENST00000379164.4_Silent_p.V99V|FSTL5_ENST00000536695.1_Silent_p.V99V|FSTL5_ENST00000427802.2_Silent_p.V99V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	100	Kazal-like.					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)		CAGATCCACACACAGGTTTGT	0.443000													48	31					2.01872e-29	3.05088e-29	0.870114	1	0
KLHL7	55975	broad.mit.edu	37	7	23205333	23205333	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:23205333A>G	ENST00000322231.7	+	9	1377	c.887A>G	c.(886-888)gAc>gGc	p.D296G	KLHL7_ENST00000545443.1_Missense_Mutation_p.D296G|KLHL7_ENST00000542558.1_Missense_Mutation_p.D93G|KLHL7_ENST00000539124.1_Missense_Mutation_p.D242G|KLHL7_ENST00000409689.1_Missense_Mutation_p.D270G|KLHL7_ENST00000339077.4_Missense_Mutation_p.D318G			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	318						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGGACAGACATCCGCTGC	0.403000													26	52					0	0	0.717897	0	0
MKRN3	7681	broad.mit.edu	37	15	23811400	23811400	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23811400G>A	ENST00000314520.3	+	1	947	c.471G>A	c.(469-471)gcG>gcA	p.A157A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	157						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A157A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGAAGTGGCGGAAGCCCCCC	0.642000													17	60					0	0	0.575678	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49763518	49763518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:49763518C>A	ENST00000249601.4	-	3	608	c.312G>T	c.(310-312)gaG>gaT	p.E104D	ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E104D|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E110D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	104	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGGCTGATCTCAAAGAGGT	0.577000													47	108					2.55665e-31	3.89688e-31	0.870114	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56703218	56703218	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:56703218C>A	ENST00000586855.2	-	3	902		c.e3+1		ZSCAN5B_ENST00000358992.3_Splice_Site			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACACACTCACCTGCCTCCTG	0.607000													12	31					1.5739e-10	1.87954e-10	0.500413	1	0
SYNE1	23345	broad.mit.edu	37	6	152623106	152623106	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152623106G>A	ENST00000367255.5	-	92	18040	c.17439C>T	c.(17437-17439)acC>acT	p.T5813T	SYNE1_ENST00000423061.1_Silent_p.T5742T|SYNE1_ENST00000356820.4_Silent_p.T337T|SYNE1_ENST00000448038.1_Silent_p.T5742T|SYNE1_ENST00000341594.5_Silent_p.T5425T|SYNE1_ENST00000265368.4_Silent_p.T5813T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5813					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)		TCAGCAGCATGGTGGCGTGCT	0.597000										HNSCC(10;0.0054)			28	110					0	0	0.717897	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787212	122787212	+	Splice_Site	SNP	C	C	T	rs150284958		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:122787212C>T	ENST00000194130.2	-	7	852		c.e7+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGGTTACTTACGTATTGAAAT	0.358000													35	38					0	0	0.804634	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280484	68280484	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:68280484C>A	ENST00000433211.1	-	11	1596	c.1422G>T	c.(1420-1422)gcG>gcT	p.A474A	CTNNA3_ENST00000373744.4_Silent_p.A474A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	474					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			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						TGTTTTTGACCGCTTGACTTT	0.378000													43	94					3.7052e-28	5.56821e-28	0.864702	1	0
PDE8B	8622	broad.mit.edu	37	5	76703252	76703252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:76703252C>A	ENST00000264917.5	+	13	1380	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q	PDE8B_ENST00000333194.4_Missense_Mutation_p.H445Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.H348Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.H425Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.H398Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	445					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGAGGATCCACTCCATGACCA	0.582000													23	67					3.73988e-18	5.00209e-18	0.706142	1	0
INHBB	3625	broad.mit.edu	37	2	121107382	121107382	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:121107382G>T	ENST00000295228.3	+	2	1202	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	386					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCTGTACTTCGATGATGAGTA	0.607000													19	51					1.56452e-12	1.93755e-12	0.557998	1	0
TRPM1	4308	broad.mit.edu	37	15	31324988	31324988	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:31324988G>A	ENST00000542188.1	-	21	3220	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	TRPM1_ENST00000397795.2_Silent_p.I930I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I952I|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	930					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)		CCACACAGTAGATCACCCGGC	0.473000													42	69					0	0	0.853193	0	0
OR2B6	26212	broad.mit.edu	37	6	27925796	27925796	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27925796C>T	ENST00000244623.1	+	1	778	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGTACCTGCAACCACC	0.453000													112	61					0	0	0.870114	0	0
MDH1B	130752	broad.mit.edu	37	2	207621966	207621966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621966C>A	ENST00000374412.3	-	3	540	c.265G>T	c.(265-267)Gct>Tct	p.A89S	MDH1B_ENST00000454776.2_Missense_Mutation_p.A89S|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Missense_Mutation_p.A89S	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	89					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATACCTGAGCATGCTCCAGG	0.363000													25	92					3.7963e-18	5.06489e-18	0.654019	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595271	140595271	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140595271G>T	ENST00000341948.4	+	1	1763	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCTGCAGGGGTTCCAGTT	0.692000													63	50					2.165e-29	3.26275e-29	0.870114	1	0
SKI	6497	broad.mit.edu	37	1	2160689	2160689	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:2160689A>T	ENST00000378536.4	+	1	556	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	162					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGATCCTCAAAGTCATGGG	0.662000													17	5					0	0	0.500413	0	0
CHD5	26038	broad.mit.edu	37	1	6188634	6188634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:6188634T>A	ENST00000262450.3	-	24	3754	c.3655A>T	c.(3655-3657)Atc>Ttc	p.I1219F	CHD5_ENST00000378021.1_Missense_Mutation_p.I76F	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1219					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATCAGGGATGGGTGTGACC	0.632000													21	47					0	0	0.592651	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638688	65638688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65638688C>T	ENST00000307998.6	-	4	537	c.307G>A	c.(307-309)Gct>Act	p.A103T	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A103T	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	103				AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108).	blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGTGTTGAGCGGGAGGCACT	0.652000													35	122					0	0	0.870114	0	0
TMC2	117532	broad.mit.edu	37	20	2592857	2592857	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2592857A>G	ENST00000358864.1	+	13	1629	c.1614A>G	c.(1612-1614)atA>atG	p.I538M	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	538						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGAGACAATAAAGAACATCA	0.502000													49	153					0	0	0.870114	0	0
DTX3	196403	broad.mit.edu	37	12	58001107	58001107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:58001107G>T	ENST00000548198.1	+	3	1965	c.461G>T	c.(460-462)cGg>cTg	p.R154L	DTX3_ENST00000551632.1_Missense_Mutation_p.R157L|DTX3_ENST00000337737.3_Missense_Mutation_p.R154L|DTX3_ENST00000548804.1_Missense_Mutation_p.R154L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	154					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					cctcgccttcGGGAGGAGGCA	0.672000													5	21					1.23904e-05	1.36396e-05	0.184627	1	0
HMCN1	83872	broad.mit.edu	37	1	185833728	185833728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185833728G>C	ENST00000271588.4	+	3	695	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V156L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	156	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCCATGAGGTGCTGCAACT	0.418000													13	27					0	0	0.435327	0	0
USP24	23358	broad.mit.edu	37	1	55599818	55599818	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:55599818C>T	ENST00000294383.6	-	30	3305	c.3306G>A	c.(3304-3306)cgG>cgA	p.R1102R	USP24_ENST00000407756.1_Silent_p.R942R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1102					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						GCAGAAGCTTCCGTACTCGTA	0.333000													18	32					0	0	0.539581	0	0
ADAT1	23536	broad.mit.edu	37	16	75646689	75646689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:75646689C>A	ENST00000307921.3	-	7	640	c.495G>T	c.(493-495)tgG>tgT	p.W165C		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	165	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AGTTGTGGGCCCAATTTCTGA	0.463000													20	49					7.87624e-14	9.89153e-14	0.639603	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864055	31864055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:31864055C>A	ENST00000334063.4	-	1	220	c.221G>T	c.(220-222)gGa>gTa	p.G74V		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	74						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAATCCATATCCTCCATAGTA	0.468000													68	145					3.13296e-38	4.9885e-38	0.870114	1	0
OR4A16	81327	broad.mit.edu	37	11	55110944	55110944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55110944A>G	ENST00000314721.2	+	1	318	c.268A>G	c.(268-270)Att>Gtt	p.I90V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAAAATCGCTATTTCCTTGTC	0.438000													95	111					0	0	0.870114	0	0
CXorf67	340602	broad.mit.edu	37	X	51151314	51151314	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:51151314T>A	ENST00000342995.2	+	1	1548	c.1446T>A	c.(1444-1446)ccT>ccA	p.P482P						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCTGAGCCCTGTCCCTCCAG	0.537000													36	25					0	0	0.779181	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306893	28306893	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:28306893C>A	ENST00000284987.5	-	4	1702	c.1581G>T	c.(1579-1581)atG>atT	p.M527I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	527	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCAGACAGACCATCTGGCCCT	0.572000													35	73					1.26612e-14	1.61279e-14	0.779181	1	0
GPR37	2861	broad.mit.edu	37	7	124387211	124387211	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:124387211T>A	ENST00000303921.2	-	2	1860	c.1210A>T	c.(1210-1212)Agc>Tgc	p.S404C		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	404						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTCCTTGCTCAGCTGGCGG	0.473000													44	104					0	0	0.864702	0	0
SETD2	29072	broad.mit.edu	37	3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:47147518T>C	ENST00000409792.3	-	6	4850	c.4808A>G	c.(4807-4809)cAt>cGt	p.H1603R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								43	142					0	0	0.853193	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:54913116G>T	ENST00000293373.6	+	16	1704	c.1625_splice	c.e16+1	p.C542_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.C492_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	542					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTACTTTCTGGTATGTCTTG	0.368000													49	104					1.5774e-09	1.85474e-09	0.870114	1	0
CSHL1	1444	broad.mit.edu	37	17	61987391	61987391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:61987391G>C	ENST00000450719.3	-	3	557	c.320C>G	c.(319-321)cCc>cGc	p.P107R	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P118R|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATTCACGAGGGGAAATGAAGA	0.547000													48	112					0	0	0.870114	0	0
CDHR3	222256	broad.mit.edu	37	7	105603804	105603804	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:105603804A>G	ENST00000542731.1	+	1	148	c.40A>G	c.(40-42)Atg>Gtg	p.M14V	CDHR3_ENST00000478080.1_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.M14V|CDHR3_ENST00000317716.9_Missense_Mutation_p.M14V|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	14					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						CCTGGGTGCCATGTCAGGTAG	0.488000													85	163					0	0	0.870114	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755534	49755534	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49755534G>A	ENST00000535833.1	-	10	4815	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	455					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCAGAAAGACTACGTGCT	0.637000													39	75					0	0	0.870114	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858380	27858380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27858380C>T	ENST00000359303.2	-	1	190	c.191G>A	c.(190-192)cGc>cAc	p.R64H		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGGCAGTTTGCGGATGAGCAG	0.607000													6	96					0	0	0.217242	0	0
DHRS11	79154	broad.mit.edu	37	17	34951428	34951428	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:34951428G>T	ENST00000251312.5	+	2	387	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	59						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TAAGAGTGCAGGCTACCCCGG	0.557000													4	65					0.00024832	0.000264644	0.150653	1	0
KANK1	23189	broad.mit.edu	37	9	713363	713363	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:713363T>C	ENST00000382303.1	+	7	3249	c.2597T>C	c.(2596-2598)cTc>cCc	p.L866P	KANK1_ENST00000382293.3_Missense_Mutation_p.L708P|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.L866P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	866					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACTCTCAGCTCATCAGCACC	0.512000													91	94					0	0	0.870114	0	0
AREL1	9870	broad.mit.edu	37	14	75150018	75150018	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:75150018G>A	ENST00000356357.4	-	5	977	c.462C>T	c.(460-462)taC>taT	p.Y154Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1									p.Y154*(1)									AAATTTTGTAGTAGGGACTAT	0.403000													30	78					0	0	0.740014	0	0
GPR155	151556	broad.mit.edu	37	2	175333771	175333771	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:175333771T>C	ENST00000392552.2	-	5	1289	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	GPR155_ENST00000392551.2_Missense_Mutation_p.T351A|GPR155_ENST00000295500.4_Missense_Mutation_p.T351A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	351					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACACAAATGTGCTTATCACC	0.398000													28	79					0	0	0.729181	0	0
CLCN2	1181	broad.mit.edu	37	3	184076565	184076565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184076565C>T	ENST00000265593.4	-	3	428	c.257G>A	c.(256-258)aGg>aAg	p.R86K	CLCN2_ENST00000344937.7_Missense_Mutation_p.R86K|CLCN2_ENST00000457512.1_Missense_Mutation_p.R86K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	86						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTCACCAACCCTGGATACTAG	0.557000													3	15					0	0	0.248553	0	0
TGM3	7053	broad.mit.edu	37	20	2308958	2308958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2308958C>T	ENST00000381458.5	+	9	1343	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	427					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCACCAAGGCGGTGGGCAGC	0.572000													19	48					0	0	0.539581	0	0
MDGA2	161357	broad.mit.edu	37	14	47530772	47530772	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:47530772T>A	ENST00000426342.1	-	7	1057	c.311A>T	c.(310-312)aAa>aTa	p.K104I	MDGA2_ENST00000439988.2_Missense_Mutation_p.K333I|MDGA2_ENST00000399232.2_Missense_Mutation_p.K402I|MDGA2_ENST00000357362.3_Missense_Mutation_p.K104I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATCGTCCTTTTTTTAATGC	0.348000													12	35					0	0	0.411799	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871438	8871438	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:8871438C>G	ENST00000256707.3	-	30	4909	c.4728G>C	c.(4726-4728)gcG>gcC	p.A1576A	KIDINS220_ENST00000418530.1_Silent_p.A1477A|KIDINS220_ENST00000427284.1_Silent_p.A1557A|KIDINS220_ENST00000473731.1_Silent_p.A1557A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1576					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTCAAGGAGCGCATCCGATA	0.478000													40	89					0	0	0.834066	0	0
ADCY2	108	broad.mit.edu	37	5	7757586	7757586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7757586C>G	ENST00000338316.4	+	16	2070	c.1981C>G	c.(1981-1983)Ctg>Gtg	p.L661V	ADCY2_ENST00000537121.1_Missense_Mutation_p.L481V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	661					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCCTCTCCCCTGCTCATGTG	0.473000													57	184					0	0	0.870114	0	0
ACACA	31	broad.mit.edu	37	17	35549233	35549233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:35549233C>T	ENST00000353139.5	-	37	4695	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	ACACA_ENST00000335166.5_Missense_Mutation_p.R1290H|ACACA_ENST00000394406.2_Missense_Mutation_p.R1368H|ACACA_ENST00000360679.3_Missense_Mutation_p.R1310H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1368					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)	ACGATAGATACGATCCTCCTC	0.408000													22	39					0	0	0.608945	0	0
C8B	732	broad.mit.edu	37	1	57420448	57420448	+	Missense_Mutation	SNP	G	G	C	rs151302643	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57420448G>C	ENST00000543257.1	-	5	854	c.288C>G	c.(286-288)gaC>gaG	p.D96E	C8B_ENST00000535057.1_Missense_Mutation_p.D86E|C8B_ENST00000371237.4_Missense_Mutation_p.D148E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	148	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCTGACTGGTCTCCACAGT	0.448000													39	98					0	0	0.819951	0	0
SGIP1	84251	broad.mit.edu	37	1	67099824	67099824	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:67099824C>A	ENST00000237247.6	+	5	299	c.161C>A	c.(160-162)gCc>gAc	p.A54D	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000468286.1_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	51					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						TGGCTCAGAGCCCTCTCGTTA	0.507000													5	20					0.000602214	0.000635473	0.184627	1	0
RLIM	51132	broad.mit.edu	37	X	73811532	73811532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:73811532C>T	ENST00000332687.6	-	4	1836	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	RLIM_ENST00000349225.2_Missense_Mutation_p.D540N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	540					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCATCATCATCCTCATTTAAG	0.453000													16	11					0	0	0.479597	0	0
SYNE1	23345	broad.mit.edu	37	6	152690250	152690250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152690250C>G	ENST00000367255.5	-	61	10265	c.9664G>C	c.(9664-9666)Gaa>Caa	p.E3222Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E3229Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3229Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3261Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3222Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3222					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)		CAGTGTATTTCCTCAAGGACA	0.502000										HNSCC(10;0.0054)			4	93					0	0	0.150653	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21472443	21472443	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:21472443C>A	ENST00000390670.3	-	0	154				SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000452078.1_Intron|SLCO1A2_ENST00000458504.1_Intron			P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2						bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ctctgcaacccttgagctcag	0.438000													9	25					0.000274275	0.000290569	0.307466	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595270	140595270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140595270G>T	ENST00000341948.4	+	1	1762	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTGCAGGGGTTCCAGT	0.692000													62	53					5.00936e-31	7.61365e-31	0.870114	1	0
MKLN1	4289	broad.mit.edu	37	7	131128284	131128284	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:131128284T>C	ENST00000352689.6	+	11	1258	c.1218T>C	c.(1216-1218)ggT>ggC	p.G406G	MKLN1_ENST00000421797.2_Silent_p.G314G	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	406					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTTTTGGTGGTAGAATTTTGA	0.393000													5	120					0	0	0.248553	0	0
MED14	9282	broad.mit.edu	37	X	40513656	40513656	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:40513656G>A	ENST00000324817.1	-	30	4369	c.4251C>T	c.(4249-4251)aaC>aaT	p.N1417N		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1417					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCAGAATGTTGCTGACCA	0.418000													41	18					0	0	0.870114	0	0
OR13J1	392309	broad.mit.edu	37	9	35869982	35869982	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:35869982C>G	ENST00000377981.2	-	1	479	c.417G>C	c.(415-417)cgG>cgC	p.R139R		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCACGCAGAGCCGGTGGCTCA	0.637000													34	68					0	0	0.853193	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360582	129360582	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129360582C>G	ENST00000442111.2	+	2	280	c.192C>G	c.(190-192)ctC>ctG	p.L64L	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Silent_p.L53L|GLT1D1_ENST00000281703.6_Silent_p.L64L			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	64					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTCTTCATCTCTATAGGGGAG	0.448000													82	183					0	0	0.870114	0	0
IQGAP2	10788	broad.mit.edu	37	5	75936852	75936852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:75936852G>T	ENST00000274364.6	+	17	2315	c.2018G>T	c.(2017-2019)gGa>gTa	p.G673V	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	673					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)		ACAAGCTCAGGACCCATCCTT	0.423000													26	52					1.17962e-10	1.41502e-10	0.840704	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185363	89185363	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:89185363C>A	ENST00000390243.2	+	0	232																											CAGGTGCCTACGGGGACATCG	0.443000													26	72					1.5548e-18	2.10587e-18	0.693898	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140763189	140763189	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140763189C>T	ENST00000518325.1	+	1	723	c.723C>T	c.(721-723)gtC>gtT	p.V241V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCCTGTCTTCTCTCTGC	0.587000													11	27					0	0	0.435327	0	0
ZNF30	90075	broad.mit.edu	37	19	35435633	35435633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:35435633G>A	ENST00000439785.1	+	5	2210	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.R588Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.R507Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.R589Q	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAACATCAGCGGGTACACACT	0.403000													15	26					0	0	0.500413	0	0
FOXA3	3171	broad.mit.edu	37	19	46376291	46376291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:46376291C>T	ENST00000302177.2	+	2	1225	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	343					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding	p.S343Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GGCCTCTATTCCCGCTCTTTG	0.582000													10	18					0	0	0.361761	0	0
DOCK10	55619	broad.mit.edu	37	2	225740756	225740756	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:225740756C>A	ENST00000409592.3	-	8	1025	c.913_splice	c.e8+1	p.L304_splice	DOCK10_ENST00000258390.7_Splice_Site_p.L310_splice			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	310							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTCTCACCCAGACCCAGAT	0.517000													20	87					8.10497e-08	9.36536e-08	0.592651	1	0
CYP4F2	8529	broad.mit.edu	37	19	15989674	15989674	+	Silent	SNP	G	G	A	rs150488576	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15989674G>A	ENST00000221700.5	-	13	1565	c.1470C>T	c.(1468-1470)cgC>cgT	p.R490R	CYP4F2_ENST00000592328.1_Silent_p.R490R	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	490					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCAGGACGCGGAAGCGCA	0.672000													12	52					0	0	0.435327	0	0
ZMYM3	9203	broad.mit.edu	37	X	70467681	70467681	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70467681T>G	ENST00000373998.1	-	12	2748	c.2051A>C	c.(2050-2052)cAg>cCg	p.Q684P	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q686P|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q686P|ZMYM3_ENST00000353904.2_Missense_Mutation_p.Q684P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q684P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	684					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGGCAGGTCTGGGAGCAGTA	0.532000													19	5					0	0	0.592651	0	0
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:4764024G>A	ENST00000266544.5	+	3	274	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	85					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.R85L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATACCCTATCGGTGTGATAAA	0.403000													4	82					0	0	0.184627	0	0
CCSER1	401145	broad.mit.edu	37	4	91549260	91549260	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:91549260G>T	ENST00000509176.1	+	6	2097	c.1809G>T	c.(1807-1809)gcG>gcT	p.A603A	CCSER1_ENST00000432775.2_Silent_p.A603A|CCSER1_ENST00000333691.8_Silent_p.A603A	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GTCCATCTGCGGATTGGCCTC	0.443000													57	39					1.53582e-20	2.17372e-20	0.870114	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884816	24884816	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:24884816C>G	ENST00000382554.3	+	9	4179	c.3861C>G	c.(3859-3861)ccC>ccG	p.P1287P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1287					DNA integration	integral to membrane	DNA binding	p.P1287P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCTCACCCCCGCGGCCTCCA	0.622000													38	89					0	0	0.788014	0	0
OGDHL	55753	broad.mit.edu	37	10	50946031	50946031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:50946031C>A	ENST00000374103.4	-	19	2564	c.2479G>T	c.(2479-2481)Gtg>Ttg	p.V827L	OGDHL_ENST00000419399.1_Missense_Mutation_p.V770L|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	827					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGCGCAGCACGTGGAAGTAG	0.652000													70	169					1.79293e-35	2.82123e-35	0.870114	1	0
OR2M4	26245	broad.mit.edu	37	1	248402915	248402915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248402915G>A	ENST00000306687.1	+	1	685	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	229					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)			CATCCACATGGGCTCTGGGGA	0.483000													24	33					0	0	0.717897	0	0
ERC2	26059	broad.mit.edu	37	3	56330328	56330328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:56330328G>A	ENST00000288221.6	-	3	1048	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	265						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)		GCTTGGAGCCGCCTAAAGTTC	0.542000													57	141					0	0	0.870114	0	0
CNR1	1268	broad.mit.edu	37	6	88854007	88854007	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:88854007C>T	ENST00000537554.1	-	2	4549	c.987G>A	c.(985-987)gtG>gtA	p.V329V	CNR1_ENST00000428600.2_Silent_p.V329V|CNR1_ENST00000369501.2_Silent_p.V329V|CNR1_ENST00000369499.2_Silent_p.V329V|CNR1_ENST00000535130.1_Silent_p.V329V|CNR1_ENST00000468898.1_Silent_p.V296V|CNR1_ENST00000549890.1_Silent_p.V329V|CNR1_ENST00000549716.1_Silent_p.V268V|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	329					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)	CTGGCCGGGTCACCTGTACCT	0.567000													53	68					0	0	0.870114	0	0
GPATCH8	23131	broad.mit.edu	37	17	42513913	42513913	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:42513913C>A	ENST00000591680.1	-	4	224	c.193_splice	c.e4-1	p.G65_splice	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	65	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCTGTTCTCCCTGTAACAGG	0.428000													28	73					5.77227e-19	7.89812e-19	0.729181	1	0
YY1AP1	55249	broad.mit.edu	37	1	155629663	155629663	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155629663C>A	ENST00000368340.5	-	10	2500	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W	YY1AP1_ENST00000368330.2_Missense_Mutation_p.G680W|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G669W|YY1AP1_ENST00000295566.4_Missense_Mutation_p.G726W|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G669W|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G680W|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G649W|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G818W|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G680W|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G660W|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G526W|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G649W	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTGGAGGCCCTGGGCTATGT	0.512000													19	83					1.50039e-11	1.83686e-11	0.608945	1	0
SLC35F1	222553	broad.mit.edu	37	6	118635271	118635271	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:118635271C>A	ENST00000360388.4	+	8	1284	c.1083C>A	c.(1081-1083)gcC>gcA	p.A361A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	361					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTACATAGCCCAGGACCCCC	0.507000													48	262					6.3008e-33	9.77081e-33	0.870114	1	0
ACSM2A	123876	broad.mit.edu	37	16	20487096	20487096	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:20487096G>T	ENST00000573854.1	+	8	1212		c.e8+1		ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GACAGAAACGGTACCTGTTCC	0.483000													95	233					2.24395e-52	3.73992e-52	0.870114	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237175	30237175	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:30237175C>A	ENST00000378988.4	+	2	579	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	160	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCTGAGGGCCTCAGTGTTGT	0.463000													14	6					9.31168e-06	1.03571e-05	0.435327	1	0
THSD7A	221981	broad.mit.edu	37	7	11675973	11675973	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:11675973C>A	ENST00000423059.3	-	2	1057	c.806G>T	c.(805-807)cGa>cTa	p.R269L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	269						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)		TCTTACTTGTCGGGAGTGGGG	0.557000										HNSCC(18;0.044)			52	104					2.73381e-35	4.28911e-35	0.870114	1	0
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:123504071C>A	ENST00000371139.4	+	3	546	c.247C>A	c.(247-249)Ctc>Atc	p.L83I	STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83I	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373000													66	34					2.17656e-39	3.5074e-39	0.870114	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125284996	125284996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:125284996A>G	ENST00000431078.1	+	10	1973	c.1609A>G	c.(1609-1611)Agt>Ggt	p.S537G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	537	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGGAATTTTAGTGATTTACA	0.423000													48	88					0	0	0.870114	0	0
CHD2	1106	broad.mit.edu	37	15	93528831	93528831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:93528831C>T	ENST00000394196.4	+	26	4409	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L	CHD2_ENST00000557381.1_Missense_Mutation_p.P1114L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1114					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGAAGCCAAAGCGCAGA	0.537000													26	93					0	0	0.706142	0	0
GHITM	27069	broad.mit.edu	37	10	85901368	85901368	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:85901368C>T	ENST00000372134.3	+	2	305	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	38					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GAATCAATGGCTGTTAACACC	0.448000													55	128					0	0	0.870114	0	0
SH3TC2	79628	broad.mit.edu	37	5	148389880	148389880	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:148389880A>T	ENST00000538184.1	-	10	2809	c.1921T>A	c.(1921-1923)Ttc>Atc	p.F641I	SH3TC2_ENST00000515425.1_Missense_Mutation_p.F1094I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.F1087I			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1094							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGAAGAACACATCACCT	0.537000													29	33					0	0	0.706142	0	0
PKD2L1	9033	broad.mit.edu	37	10	102050189	102050189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:102050189C>A	ENST00000318222.3	-	13	2477	c.2095G>T	c.(2095-2097)Gga>Tga	p.G699*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.G624*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.G699*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	699					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACCCAGCCTCCTGCTCTGGCA	0.517000													17	41					7.21436e-19	9.84613e-19	0.575678	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530659	140530659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140530659G>A	ENST00000231136.1	+	1	821	c.821G>A	c.(820-822)gGg>gAg	p.G274E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G138E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		274	Cadherin 3.				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)			GGATCGTTTGGGAAGGTATCT	0.473000													19	54					0	0	0.575678	0	0
OR1N2	138882	broad.mit.edu	37	9	125315759	125315759	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:125315759C>A	ENST00000373688.2	+	1	369	c.311C>A	c.(310-312)aCc>aAc	p.T104N		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AACATTCATACCCAGAGTCAG	0.478000													86	162					1.12511e-72	1.90485e-72	0.870114	1	0
ESPNL	339768	broad.mit.edu	37	2	239040038	239040038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:239040038G>C	ENST00000343063.3	+	9	2946	c.2683G>C	c.(2683-2685)Gag>Cag	p.E895Q	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.E851Q|ESPNL_ENST00000409506.1_Missense_Mutation_p.E527Q	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	895										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACGGCTGGGAGGCTGTGCG	0.687000													5	13					0	0	0.278610	0	0
PYGO2	90780	broad.mit.edu	37	1	154931794	154931794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154931794G>A	ENST00000368457.2	-	3	853	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	PYGO2_ENST00000368456.1_Nonsense_Mutation_p.Q191*	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	228	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGTCTCTGGAGAGGAGAA	0.637000													7	39					0	0	0.278610	0	0
WDR18	57418	broad.mit.edu	37	19	990234	990234	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:990234C>A	ENST00000251289.5	+	4	490	c.467C>A	c.(466-468)gCc>gAc	p.A156D	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Missense_Mutation_p.A156D	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	156										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)		GTGCTGCAGGCCGACCCCTCC	0.721000													8	30					1.12685e-05	1.24559e-05	0.307466	1	0
CSMD3	114788	broad.mit.edu	37	8	113504751	113504751	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113504751G>T	ENST00000297405.5	-	31	5489	c.5245C>A	c.(5245-5247)Cct>Act	p.P1749T	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1749T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1645T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1709T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1749	Sushi 9.					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						TTCCATCCAGGTCTTCCATCA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	167					7.41945e-09	8.66683e-09	0.693898	1	0
GALNT15	117248	broad.mit.edu	37	3	16268961	16268961	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:16268961G>T	ENST00000339732.5	+	10	2377	c.1874G>T	c.(1873-1875)cGc>cTc	p.R625L	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGAAAAGCCCGCCAGCAGTGG	0.443000													35	71					1.06647e-15	1.38151e-15	0.788014	1	0
IGLV3-22	28795	broad.mit.edu	37	22	23047205	23047205	+	RNA	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:23047205T>A	ENST00000390307.2	+	0	307																											AACGATTCTCTGGGTCCACCT	0.537000													15	26					0	0	0.479597	0	0
LRRC4	64101	broad.mit.edu	37	7	127670179	127670179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:127670179G>A	ENST00000249363.3	-	2	772	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	172						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCGCATGAGGGAGGGCACCCG	0.567000													56	117					0	0	0.870114	0	0
RELA	5970	broad.mit.edu	37	11	65422031	65422031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65422031T>G	ENST00000406246.3	-	11	1735	c.1474A>C	c.(1474-1476)Atg>Ctg	p.M492L	RELA_ENST00000308639.9_Missense_Mutation_p.M489L|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	492					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCCATCAGCATGGGCTCAGTT	0.637000													34	138					0	0	0.788014	0	0
MAPRE1	22919	broad.mit.edu	37	20	31434486	31434486	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31434486G>A	ENST00000375571.5	+	6	799	c.660G>A	c.(658-660)aaG>aaA	p.K220K	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	220	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ACTTCGGAAAGCTACGGAACA	0.423000													69	163					0	0	0.870114	0	0
FAM83B	222584	broad.mit.edu	37	6	54806055	54806055	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:54806055G>A	ENST00000306858.7	+	5	2402	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	762										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGAAGTTAAGGGTTCCCCAA	0.378000													34	102					0	0	0.769981	0	0
CDS2	8760	broad.mit.edu	37	20	5166473	5166473	+	Splice_Site	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5166473G>A	ENST00000460006.1	+	9	1135		c.e9+1		CDS2_ENST00000535100.1_Splice_Site|CDS2_ENST00000379070.3_Splice_Site|CDS2_ENST00000379062.4_Splice_Site	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGGCCTTCTGGTAGGTGGTGG	0.557000													43	88					0	0	0.853193	0	0
PCDH17	27253	broad.mit.edu	37	13	58208987	58208987	+	Silent	SNP	G	G	T	rs77228191	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:58208987G>T	ENST00000377918.3	+	1	2333	c.2307G>T	c.(2305-2307)ctG>ctT	p.L769L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	769					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)		ATATCATGCTGGTGCAGAGCG	0.572000													19	25					8.00594e-06	8.92329e-06	0.557998	1	0
IGHV3-73	28409	broad.mit.edu	37	14	107211110	107211110	+	RNA	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:107211110G>A	ENST00000390636.2	-	0	258																											CCCTTTCCCGGAAGCCTGGCG	0.592000													31	95					0	0	0.796494	0	0
OR56A1	120796	broad.mit.edu	37	11	6048725	6048725	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6048725G>A	ENST00000316650.5	-	1	246	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGAGGCTGAGCAGGTAGT	0.597000													26	70					0	0	0.717897	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780623	106780623	+	RNA	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:106780623G>A	ENST00000390612.2	-	0	312																											TTGAGGGACGGGTTGTAGTAG	0.557000													64	162					0	0	0.870114	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307834	92307834	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:92307834C>A	ENST00000276609.3	+	4	619	c.380C>A	c.(379-381)aCc>aAc	p.T127N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.T127N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.T127N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	127						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGAATCTCACCACACAGAGT	0.498000													11	152					0.00829132	0.00861331	0.361761	1	0
NPAS3	64067	broad.mit.edu	37	14	34269516	34269516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:34269516C>A	ENST00000346562.2	+	11	1981	c.1907C>A	c.(1906-1908)cCg>cAg	p.P636Q	NPAS3_ENST00000357798.5_Missense_Mutation_p.P655Q|NPAS3_ENST00000356141.4_Missense_Mutation_p.P668Q|NPAS3_ENST00000548645.1_Missense_Mutation_p.P638Q|NPAS3_ENST00000551492.1_Missense_Mutation_p.P673Q	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAACTACCCGCCCAACCGG	0.622000													29	85					2.85442e-18	3.82735e-18	0.750413	1	0
HAO1	54363	broad.mit.edu	37	20	7866414	7866414	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:7866414A>C	ENST00000378789.3	-	6	962	c.911T>G	c.(910-912)cTg>cGg	p.L304R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	304	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCAAGAGCCAGAGCTTTCAG	0.488000													59	146					0	0	0.870114	0	0
NR2F1	7025	broad.mit.edu	37	5	92929334	92929334	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:92929334A>T	ENST00000327111.3	+	3	2745	c.1058A>T	c.(1057-1059)gAg>gTg	p.E353V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	353					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCGCACTGGAGGAGTACGTG	0.647000													23	77					0	0	0.624587	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802351	140802351	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140802351A>T	ENST00000398587.2	+	1	1590	c.1557A>T	c.(1555-1557)caA>caT	p.Q519H	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.Q519H|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCTACAATCCTTCGACT	0.542000													43	126					0	0	0.847076	0	0
DCBLD1	285761	broad.mit.edu	37	6	117825024	117825024	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:117825024A>G	ENST00000338728.5	+	2	327	c.207A>G	c.(205-207)gaA>gaG	p.E69E	DCBLD1_ENST00000368503.4_Silent_p.E69E|DCBLD1_ENST00000296955.8_Silent_p.E69E|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	69	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTGTTTGCGAAAAGACAATTA	0.453000													42	235					0	0	0.834066	0	0
C1orf116	79098	broad.mit.edu	37	1	207196627	207196627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:207196627G>A	ENST00000359470.5	-	4	731	c.482C>T	c.(481-483)cCg>cTg	p.P161L	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	161						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGCCTCCCCGGTTCTCCAGG	0.602000													40	81					0	0	0.827153	0	0
TTN	7273	broad.mit.edu	37	2	179578813	179578813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179578813C>T	ENST00000589042.1	-	92	26796	c.26572G>A	c.(26572-26574)Gaa>Aaa	p.E8858K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8541K|TTN_ENST00000342992.6_Missense_Mutation_p.E7614K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8541	Ig-like 71.						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)			GTACTGAGTTCAGGGGTGCCA	0.413000													19	46					0	0	0.539581	0	0
OR5D13	390142	broad.mit.edu	37	11	55540998	55540998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55540998C>A	ENST00000361760.1	+	1	85	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCAGGTTCCACTCTTTCTGGT	0.393000													56	67					3.53049e-34	5.50674e-34	0.870114	1	0
WDR3	10885	broad.mit.edu	37	1	118481110	118481110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:118481110G>A	ENST00000349139.4	+	5	555	c.508G>A	c.(508-510)Gat>Aat	p.D170N	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	170						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAGTGGGAAAGATACCATGGT	0.423000													27	67					0	0	0.706142	0	0
CACNG6	59285	broad.mit.edu	37	19	54515364	54515364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:54515364C>A	ENST00000252729.2	+	4	1294	c.704C>A	c.(703-705)gCc>gAc	p.A235D	CACNG6_ENST00000352529.1_Missense_Mutation_p.A164D|CACNG6_ENST00000346968.2_Missense_Mutation_p.A189D	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	235						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A235V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	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;0.168)		CTGTTGGGGGCCGGCTGCTTT	0.701000													39	52					1.61572e-30	2.44876e-30	0.853193	1	0
C1orf159	54991	broad.mit.edu	37	1	1021283	1021283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:1021283delG	ENST00000448924.1	-	8	959	c.528delC	c.(526-528)ccfs	p.P176fs	C1orf159_ENST00000379320.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000437760.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000421241.2_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000379339.1_Frame_Shift_Del_p.P176fs|C1orf159_ENST00000294576.5_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000379319.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000482816.1_5'UTR			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	176						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGCAGGCCCTGGGGAGTTTAC	0.627													12	47	---	---	---	---					
CSMD2	114784	broad.mit.edu	37	1	34066567	34066567	+	Frame_Shift_Del	DEL	G	G	-	rs114879806	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:34066567delG	ENST00000373381.4	-	44	6930	c.6754delC	c.(6754-6756)ggfs	p.R2252fs	CSMD2_ENST00000373377.1_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373388.2_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000373380.1_Frame_Shift_Del_p.R1125fs	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2254	CUB 13.					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)				GCCATGCTCCGGGTGAAGACG	0.572													68	201	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185878573	185878574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185878573_185878574insA	ENST00000271588.4	+	5	955_956	c.726_727insA	c.(724-729)ccgcctfs	p.P243fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.P243fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	243					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTTGATCCCAGCCTGAAAGA	0.391													19	74	---	---	---	---					
MIA3	375056	broad.mit.edu	37	1	222837351	222837352	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:222837351_222837352insC	ENST00000344922.5	+	27	5299_5300	c.5274_5275insC	c.(5272-5277)gccaaafs	p.K1759fs	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Frame_Shift_Ins_p.K1759fs|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.K637fs	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1759	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTAATATGGCTCCAAAAGGGCC	0.485													27	93	---	---	---	---					
ACTN2	88	broad.mit.edu	37	1	236882193	236882193	+	Splice_Site	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:236882193delG	ENST00000366578.4	+	3	407		c.e3-1		ACTN2_ENST00000542672.1_Splice_Site|ACTN2_ENST00000492634.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATCCAACAGGGGAAAGGCT	0.433													20	71	---	---	---	---					
FBXO11	80204	broad.mit.edu	37	2	48059803	48059804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48059803_48059804insT	ENST00000403359.3	-	10	1239_1240	c.1167_1168insA	c.(1165-1170)gtgtgtfs	p.C390fs	FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.C306fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.C306fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	390					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACTAACACATACTGCAGAAC	0.332			"""Mis, F, D"""		DLBCL								41	78	---	---	---	---					
IGKV3-11	28914	broad.mit.edu	37	2	89327213	89327214	+	RNA	INS	-	-	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:89327213_89327214insC	ENST00000483158.1	-	0	14_15																											GAGCAGTTCCTCCCCAGGGCTC	0.599													23	72	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234375851	234375852	+	Splice_Site	INS	-	-	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:234375851_234375852insC	ENST00000264057.2	+	28	3436		c.e28+2		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		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;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGCCCCGGGTACCTGCCTCTC	0.579													9	266	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													5	11	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140122626	140122626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:140122626delG	ENST00000458420.3	+	3	578	c.388delG	c.(388-390)gtfs	p.G130fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	130	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTATGACTGTGGTGCTGGGCC	0.587										HNSCC(16;0.037)			52	108	---	---	---	---					
SPATA16	83893	broad.mit.edu	37	3	172835328	172835329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:172835328_172835329insT	ENST00000351008.3	-	2	376_377	c.193_194insA	c.(193-195)gacfs	p.D65fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	65					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)			GCCCTTTGTCATTTTTGTTCTT	0.401													84	305	---	---	---	---					
EPHB3	2049	broad.mit.edu	37	3	184294701	184294701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184294701delC	ENST00000330394.2	+	5	1536	c.1084delC	c.(1084-1086)ccfs	p.P362fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	362	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTGGAGTGAGCCCCGGGACCT	0.577													56	163	---	---	---	---					
PAK2	5062	broad.mit.edu	37	3	196541368	196541368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:196541368delG	ENST00000327134.3	+	11	1304	c.982delG	c.(982-984)ggfs	p.G329fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	329	Protein kinase.			G -> R (in Ref. 3; AAA75468).	axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATACCTTGCTGGGGGGTCACT	0.408													72	195	---	---	---	---					
LINC00504	201853	broad.mit.edu	37	4	14562533	14562536	+	RNA	DEL	GAAG	GAAG	-	rs140455372		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:14562533_14562536delGAAG	ENST00000505089.1	-	0	461																											agggagggaagaaggaaggaagga	0.422													3	4	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16304713	16304714	+	RNA	DEL	AT	AT	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:16304713_16304714delAT	ENST00000573950.1	+	0	434																											acacacacacatacacagagag	0.490													3	3	---	---	---	---					
F11-AS1	285441	broad.mit.edu	37	4	187250800	187250800	+	RNA	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:187250800delG	ENST00000505103.1	-	0	153					NR_033900.1																						GGGACTGGGCGGGAACCGGCT	0.502													6	2	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176700778	176700779	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:176700778_176700779delAT	ENST00000439151.2	+	17	5660_5661	c.5615_5616delAT	c.(5614-5616)cfs	p.H1872fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1872					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTATAAACATATAAAGGTGA	0.450			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	25	---	---	---	---					
SAMD3	154075	broad.mit.edu	37	6	130497054	130497054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:130497054delG	ENST00000532763.1	-	7	877	c.748delC	c.(748-750)gafs	p.R251fs	SAMD3_ENST00000368134.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.R277fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.R253fs			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	253										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGCCTCTTCGGTGTCCAAAT	0.348													53	246	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157470017	157470018	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157470017_157470018delTG	ENST00000346085.5	+	9	2812_2813	c.2811_2812delTG	c.(2809-2814)actgfs	p.TV937fs	ARID1B_ENST00000350026.5_Frame_Shift_Del_p.TV924fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.TV866fs|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.TV924fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	924					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)		CAATGCCAACTGTGAACCGTAA	0.604													47	43	---	---	---	---					
AIMP2	7965	broad.mit.edu	37	7	6057627	6057628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:6057627_6057628insC	ENST00000223029.3	+	3	644_645	c.525_526insC	c.(523-528)aaagccfs	p.KA175fs	AIMP2_ENST00000400479.2_Frame_Shift_Ins_p.KA97fs|AIMP2_ENST00000395236.2_Frame_Shift_Ins_p.KA106fs	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	175	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAATAAAAAACAGCCCCGCCA	0.495													7	23	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110453596	110453596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:110453596delG	ENST00000378402.5	+	34	4296	c.4192delG	c.(4192-4194)ggfs	p.G1398fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1398	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCAACAATGGGAAAGATTC	0.289										HNSCC(38;0.096)			11	32	---	---	---	---					
C9orf72	203228	broad.mit.edu	37	9	27561618	27561620	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:27561618_27561620delATC	ENST00000380003.3	-	5	691_693	c.628_630delGAT	c.(628-630)del	p.D210del	C9orf72_ENST00000379997.3_In_Frame_Del_p.D210del|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	210										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGTCACCAATATCATCATCATTG	0.315													29	98	---	---	---	---					
SYK	6850	broad.mit.edu	37	9	93606272	93606273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:93606272_93606273insG	ENST00000375754.4	+	2	240_241	c.92_93insG	c.(91-93)cggfs	p.R31fs	SYK_ENST00000375746.1_Frame_Shift_Ins_p.R31fs|SYK_ENST00000375747.1_Frame_Shift_Ins_p.R31fs|SYK_ENST00000375751.4_Frame_Shift_Ins_p.R31fs|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	31	SH2 1.				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						TACCTGGTCCAGGGGGGCATGA	0.619			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								17	18	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139407552	139407552	+	Frame_Shift_Del	DEL	C	C	-	rs143360959	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:139407552delC	ENST00000277541.6	-	15	2463	c.2388delG	c.(2386-2388)gcfs	p.A796fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	796	EGF-like 21; 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)		ATGGGTTGGACGCACACTCGT	0.622			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			26	36	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777721	123777721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:123777721delG	ENST00000321355.2	+	1	613	c.583delG	c.(583-585)atfs	p.D195fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CACTTATATTGATGAGCTTTT	0.373													91	107	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57112598	57112604	+	Frame_Shift_Del	DEL	TGGGTGC	TGGGTGC	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:57112598_57112604delTGGGTGC	ENST00000454682.1	-	3	2991_2997	c.2710_2716delGCACCCA	c.(2710-2718)aafs	p.APK904fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_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						GGAGCCTGTTTGGGTGCTGGAGTAGCT	0.575			T	BCL6	NHL								12	47	---	---	---	---					
C12orf52	84934	broad.mit.edu	37	12	113629261	113629262	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:113629261_113629262insT	ENST00000548278.1	+	4	1141_1142	c.449_450insT	c.(448-450)gagfs	p.E150fs	C12orf52_ENST00000552495.1_Frame_Shift_Ins_p.E174fs|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Frame_Shift_Ins_p.E150fs	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	150	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						ACCCCCAGGGGTAGCCACTCGC	0.678													8	41	---	---	---	---					
CHRNA5	1138	broad.mit.edu	37	15	78878992	78878993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:78878992_78878993insA	ENST00000299565.5	+	3	464_465	c.264_265insA	c.(262-267)gaaaaafs	p.EK88fs	CHRNA5_ENST00000559554.1_Frame_Shift_Ins_p.EK88fs	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	88					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						taaaGGATGAGAAAAATCAGTT	0.262													89	115	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													7	134	---	---	---	---					
SHBG	6462	broad.mit.edu	37	17	7534985	7534985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7534985delA	ENST00000380450.4	+	5	665	c.634delA	c.(634-636)ctfs	p.T212fs	SHBG_ENST00000575314.1_Frame_Shift_Del_p.T154fs|SHBG_ENST00000441599.2_Frame_Shift_Del_p.T212fs|SHBG_ENST00000416273.3_Frame_Shift_Del_p.T212fs|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000570547.1_Frame_Shift_Del_p.T154fs|SHBG_ENST00000572262.1_Frame_Shift_Del_p.T100fs|SHBG_ENST00000575903.1_Frame_Shift_Del_p.T194fs|SHBG_ENST00000574539.1_Frame_Shift_Del_p.T154fs|SHBG_ENST00000576478.1_Frame_Shift_Del_p.T100fs|SHBG_ENST00000340624.5_Frame_Shift_Del_p.T154fs|SHBG_ENST00000576728.1_Frame_Shift_Del_p.T100fs	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	212	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ATCTGCCCCCACTAGCCTCAG	0.547													7	323	---	---	---	---					
ZFR2	23217	broad.mit.edu	37	19	3808936	3808937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:3808936_3808937insC	ENST00000262961.4	-	17	2488_2489	c.2478_2479insG	c.(2476-2481)ggccctfs	p.GP826fs		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	826	DZF.					intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCCCAGGGGCCCAGCCGCAC	0.698													4	9	---	---	---	---					
HMGXB4	10042	broad.mit.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493													7	102	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964376	37964396	+	In_Frame_Del	DEL	CTGCAAACCCCCCAGCCACTA	CTGCAAACCCCCCAGCCACTA	-	rs10427607	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37964376_37964396delCTGCAAACCCCCCAGCCACTA	ENST00000249014.4	+	3	1145_1165	c.725_745delCTGCAAACCCCCCAGCCACTA	c.(724-747)gct>g	p.AANPPATT242del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	242	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					ACGGGTCCTGCTGCAAACCCCCCAGCCACTACTGCAAACCC	0.674													21	28	---	---	---	---					
GGA1	26088	broad.mit.edu	37	22	38028708	38028709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:38028708_38028709insT	ENST00000406772.1	+	18	2343_2344	c.1691_1692insT	c.(1690-1692)gagfs	p.E564fs	GGA1_ENST00000343632.4_Frame_Shift_Ins_p.E637fs|GGA1_ENST00000337437.4_Frame_Shift_Ins_p.E604fs|GGA1_ENST00000381756.5_Frame_Shift_Ins_p.E654fs|GGA1_ENST00000325180.8_Frame_Shift_Ins_p.E550fs	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	637	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GAAACCTGGGGTAGCCTCTAGA	0.609													7	21	---	---	---	---					
SBF1	6305	broad.mit.edu	37	22	50899572	50899589	+	Splice_Site	DEL	GCGCACCGCGCCCCACCT	GCGCACCGCGCCCCACCT	-	rs115010488	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50899572_50899589delGCGCACCGCGCCCCACCT	ENST00000380817.2	-	23	3149_3151	c.2967_splice	c.e23+1	p.L990_splice	SBF1_ENST00000348911.6_Splice_Site_p.L991_splice|SBF1_ENST00000390679.3_Splice_Site_p.L990_splice	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	990					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)		AGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCA	0.624													8	29	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44733171	44733172	+	Splice_Site	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:44733171_44733172insG	ENST00000377967.4	+	2	204_205	c.161_splice	c.e2-1	p.P55_splice	KDM6A_ENST00000543216.1_Splice_Site_p.P55_splice|KDM6A_ENST00000382899.4_Splice_Site_p.P55_splice|KDM6A_ENST00000536777.1_Splice_Site_p.P55_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	55					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTCCACAGCCGCCTCTTTGGG	0.649			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								20	10	---	---	---	---					
