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
CYP3A7	1551	broad.mit.edu	37	7	99305459	99305459	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99305459G>A	ENST00000336374.2	-	12	1394	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	464					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAGGTTTGAAGGAGAAGTTCT	0.348000													10	11					0	0	0.001368	0	0
LILRA6	79168	broad.mit.edu	37	19	54744789	54744789	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54744789C>T	ENST00000440558.2	-	5	921	c.873G>A	c.(871-873)ggG>ggA	p.G291G	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000396365.2_Silent_p.G291G|LILRA6_ENST00000245621.5_Silent_p.G291G|LILRA6_ENST00000419410.2_Silent_p.G291G|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTACTGGCCCCCGTGGGAGG	0.682000													20	92					0	0	0.001216	0	0
VNN2	8875	broad.mit.edu	37	6	133072435	133072435	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:133072435T>A	ENST00000326499.6	-	5	1173	c.1049A>T	c.(1048-1050)gAa>gTa	p.E350V	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.E297V	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	350					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCAAAAAGTTCTGTGAAGTT	0.388000													9	16					0	0	0.006214	0	0
LOC202181	202181	broad.mit.edu	37	5	177059093	177059093	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:177059093G>A	ENST00000515045.1	-	0	835					NR_026921.1																						GGTGGGCTTGGGATATTCTGC	0.547000													7	4					0	0	0.001984	0	0
ZNF329	79673	broad.mit.edu	37	19	58640350	58640350	+	Missense_Mutation	SNP	G	G	A	rs147789299		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58640350G>A	ENST00000598312.1	-	4	754	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZNF329_ENST00000358067.4_Missense_Mutation_p.S174L	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACCTTCATACGATTTCTTGCC	0.363000													24	49					0	0	0.002780	0	0
NPVF	64111	broad.mit.edu	37	7	25266258	25266258	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:25266258G>T	ENST00000222674.2	-	2	572	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	176					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GACTGTTTTTGATCGGGATTC	0.403000													58	69					3.13296e-38	6.364e-38	0.003610	1	0
GRM5	2915	broad.mit.edu	37	11	88781023	88781023	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:88781023G>A	ENST00000418177.2	-	2	385	c.18C>T	c.(16-18)atC>atT	p.I6I	GRM5_ENST00000305447.4_Silent_p.I6I|GRM5_ENST00000393294.3_Silent_p.I6I|GRM5_ENST00000393297.1_Silent_p.I6I|GRM5_ENST00000305432.5_Silent_p.I6I|GRM5_ENST00000455756.2_Silent_p.I6I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	6					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGACTGACAGGATCAACAGAA	0.478000													7	17					0	0	0.003080	0	0
PLCH1	23007	broad.mit.edu	37	3	155198957	155198957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:155198957G>A	ENST00000460012.1	-	23	5125	c.4768C>T	c.(4768-4770)Cgc>Tgc	p.R1590C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.R1628C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1590C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1590C			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1628					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGAGTGGCGATTCACTGCA	0.582000													19	41					0	0	0.006122	0	0
SCN11A	11280	broad.mit.edu	37	3	38888670	38888670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38888670C>T	ENST00000450244.1	-	26	5089	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1593K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1631K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1631K(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAAACTTTTCCCACACTTCA	0.408000													8	26					0	0	0.006214	0	0
PIGO	84720	broad.mit.edu	37	9	35095416	35095416	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:35095416G>A	ENST00000378617.3	-	2	541	c.147C>T	c.(145-147)tcC>tcT	p.S49S	PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Silent_p.S49S|PIGO_ENST00000298004.5_Silent_p.S49S|PIGO_ENST00000361778.2_Silent_p.S49S	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	49					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCATGGCAGGGACCCAGGGC	0.597000													10	22					0	0	0.000978	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812892	1812892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1812892C>T	ENST00000250894.4	+	16	1937	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P588S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	594					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCGCCCCTATCCCTCGGTGAA	0.672000													49	34					0	0	0.003610	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558991	129558991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:129558991G>A	ENST00000422113.2	-	9	3055	c.2729C>T	c.(2728-2730)tCc>tTc	p.S910F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S448F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	910						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCCCTTTGGATGCCTGCAT	0.502000													45	23					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38936350	38936350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38936350C>T	ENST00000450244.1	-	15	2707	c.2509G>A	c.(2509-2511)Gat>Aat	p.D837N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D837N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D837N|SCN11A_ENST00000302328.3_Missense_Mutation_p.D837N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	837					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGGAATCGATCCAGTGCTAAC	0.448000													21	13					0	0	0.001216	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359121	102359121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:102359121C>T	ENST00000376180.3	+	9	1367	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	ITGBL1_ENST00000545560.2_Missense_Mutation_p.S242F|ITGBL1_ENST00000376162.3_Missense_Mutation_p.S290F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	383	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACATGTTCCTGTGGTCGC	0.468000													25	52					0	0	0.003330	0	0
IRAK3	11213	broad.mit.edu	37	12	66597523	66597523	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:66597523C>G	ENST00000261233.4	+	2	587	c.166C>G	c.(166-168)Cgt>Ggt	p.R56G	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	56	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGGATGTTCGTCATATTGA	0.368000													3	17					0	0	0.004672	0	0
CD2	914	broad.mit.edu	37	1	117297532	117297532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:117297532G>A	ENST00000369478.3	+	2	449	c.341G>A	c.(340-342)gGa>gAa	p.G114E	CD2_ENST00000369477.1_Missense_Mutation_p.G114E	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	114	Ig-like V-type.|LFA-3 (CD58) binding region 2.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GATACAAAAGGAAAAAATGTG	0.308000													15	1					0	0	0.003163	0	0
COL27A1	85301	broad.mit.edu	37	9	117062389	117062389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:117062389C>T	ENST00000356083.3	+	50	5015	c.4624C>T	c.(4624-4626)Ctc>Ttc	p.L1542F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1542	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AATGGCAGGTCTCTTCGGACC	0.542000													37	63					0	0	0.007835	0	0
DMD	1756	broad.mit.edu	37	X	32867892	32867892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:32867892C>T	ENST00000357033.4	-	3	345	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	DMD_ENST00000288447.4_Missense_Mutation_p.G39R|DMD_ENST00000378677.2_Missense_Mutation_p.G43R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	47	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCGCCTCCCATCCTGTAGG	0.383000													29	27					0	0	0.004878	0	0
MCCC2	64087	broad.mit.edu	37	5	70942103	70942103	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:70942103T>A	ENST00000340941.6	+	13	1344	c.1216_splice	c.e13+1	p.T405_splice	MCCC2_ENST00000323375.8_Splice_Site_p.T367_splice	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	405	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AAAACATTACTGGTAAGAAAA	0.368000													15	8					0	0	0.004990	0	0
MDC1	9656	broad.mit.edu	37	6	30673682	30673682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:30673682G>A	ENST00000376406.3	-	10	3925	c.3278C>T	c.(3277-3279)cCc>cTc	p.P1093L	MDC1_ENST00000376405.2_Missense_Mutation_p.P829L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1093	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGAGGACAAGGGAGCCTCTGG	0.537000								Other conserved DNA damage response genes					81	218					0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126173078	126173078	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:126173078G>A	ENST00000339582.2	-	9	3166	c.2358C>T	c.(2356-2358)acC>acT	p.T786T	GRM8_ENST00000444921.2_Silent_p.T786T|GRM8_ENST00000358373.3_Silent_p.T786T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	786					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGGTATACATGGTAAATCCAA	0.408000										HNSCC(24;0.065)			4	16					0	0	0.000248	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032758	153032758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153032758G>A	ENST00000538966.1	+	4	816	c.545G>A	c.(544-546)gGt>gAt	p.G182D	PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.G159D	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	159	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGACCCTGGTGACGGGCAG	0.701000													13	22					0	0	0.002450	0	0
OR2L2	26246	broad.mit.edu	37	1	248201878	248201878	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248201878C>T	ENST00000366479.2	+	1	405	c.309C>T	c.(307-309)ttC>ttT	p.F103F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	103					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)			GTTTCTTCTTCTTGACTTTAG	0.418000													44	19					0	0	0.002222	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304353	55304353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55304353C>T	ENST00000398661.2	-	9	1021	c.890G>A	c.(889-891)gGa>gAa	p.G297E	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G101E|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G267E|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G164E|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G235E	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	297							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACATTAATTCCCATCTGGAA	0.398000													4	5					0	0	0.001168	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002789	109002789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:109002789G>A	ENST00000272452.2	+	6	1083	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	SULT1C4_ENST00000409309.3_Missense_Mutation_p.E178K	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	253					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GATTCCTGCTGAAATCATGGA	0.303000													47	108					0	0	0.003610	0	0
XIRP1	165904	broad.mit.edu	37	3	39229088	39229088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:39229088G>A	ENST00000340369.3	-	2	2077	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P617S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	617	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCTGTGGGATCTGTGACC	0.602000													21	76					0	0	0.001882	0	0
DCHS1	8642	broad.mit.edu	37	11	6643349	6643349	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6643349G>A	ENST00000299441.3	-	21	9969	c.9558C>T	c.(9556-9558)ctC>ctT	p.L3186L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3186					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCATCCTTGAGCCGAGCGA	0.632000													17	57					0	0	0.007413	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829447	27829447	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:27829447C>T	ENST00000318304.8	+	18	1831	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	PPFIBP1_ENST00000228425.6_Silent_p.F499F|PPFIBP1_ENST00000537927.1_Silent_p.F363F|PPFIBP1_ENST00000542629.1_Silent_p.F485F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	516					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACAACCCCTTCGGCACTCGAA	0.512000													12	6					0	0	0.001855	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	rs145926133		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1												p.R293C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000													21	53					0	0	0.002780	0	0
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725803	130725803	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:130725803G>A	ENST00000412425.1	-	0	815					NR_036537.1																						GATGAATGTAGAAGTGTAGAG	0.448000													4	4					0	0	0.000248	0	0
ABCA13	154664	broad.mit.edu	37	7	48312175	48312175	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:48312175A>T	ENST00000435803.1	+	17	2936	c.2912A>T	c.(2911-2913)tAt>tTt	p.Y971F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	971					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTACCGATATATTTATGAA	0.294000													16	36					0	0	0.004007	0	0
GCOM1	145781	broad.mit.edu	37	15	57929947	57929947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:57929947G>A	ENST00000574161.1	+	9	1107	c.988G>A	c.(988-990)Gag>Aag	p.E330K	GCOM1_ENST00000587652.1_Missense_Mutation_p.E330K|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.E299K|MYZAP_ENST00000267853.5_Missense_Mutation_p.E330K|GCOM1_ENST00000380568.3_Missense_Mutation_p.E330K|GCOM1_ENST00000380560.2_Missense_Mutation_p.E261K|GCOM1_ENST00000396180.1_Missense_Mutation_p.E299K|MYZAP_ENST00000380565.4_Missense_Mutation_p.E330K|GCOM1_ENST00000380569.2_Missense_Mutation_p.E330K|GCOM1_ENST00000572390.1_Missense_Mutation_p.E330K	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		330					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AATGTCTGGGGAGTTAACTGA	0.383000													4	13					0	0	0.000602	0	0
RAD18	56852	broad.mit.edu	37	3	8983456	8983456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:8983456G>A	ENST00000264926.2	-	5	415	c.299C>T	c.(298-300)cCa>cTa	p.P100L	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	100					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AGATTTGGCTGGTGACTCTAA	0.393000								Rad6 pathway					32	9					0	0	0.002445	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198805	170198805	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:170198805G>A	ENST00000231706.4	-	7	1581	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	422						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)			CACAGACAGAGACCAAGGTGT	0.527000													16	28					0	0	0.007413	0	0
RHBG	57127	broad.mit.edu	37	1	156351898	156351898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156351898G>A	ENST00000400992.2	+	7	1290	c.922G>A	c.(922-924)Gga>Aga	p.G308R	RHBG_ENST00000451864.2_Missense_Mutation_p.G262R|RHBG_ENST00000255013.3_Missense_Mutation_p.G271R|RHBG_ENST00000368249.1_Missense_Mutation_p.G340R|RHBG_ENST00000368246.2_Missense_Mutation_p.G340R|RHBG_ENST00000537040.1_Silent_p.V172V			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	340					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AGACACATGTGGAGTCCACAA	0.577000													59	168					0	0	0.003610	0	0
WDR65	149465	broad.mit.edu	37	1	43652459	43652459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:43652459G>A	ENST00000372492.4	+	6	1375	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	WDR65_ENST00000528956.1_Missense_Mutation_p.E351K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	351										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTCAGAGGAAACTCTGGT	0.512000													7	9					0	0	0.001984	0	0
YIPF7	285525	broad.mit.edu	37	4	44652016	44652016	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:44652016A>T	ENST00000332990.5	-	2	190	c.174T>A	c.(172-174)ctT>ctA	p.L58L	YIPF7_ENST00000508947.1_5'UTR	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	58						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TAGATCCATAAAGATTTCCAT	0.303000													6	2					0	0	0.003080	0	0
RNF17	56163	broad.mit.edu	37	13	25444853	25444853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:25444853C>T	ENST00000255324.5	+	32	4475	c.4423C>T	c.(4423-4425)Cct>Tct	p.P1475S	RNF17_ENST00000339524.3_Missense_Mutation_p.P485S|RNF17_ENST00000381921.1_Missense_Mutation_p.P1433S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1475					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAGGCGCTTCCTCCTCTGAC	0.428000													20	42					0	0	0.001523	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218812	134218812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:134218812C>T	ENST00000305233.5	+	2	867	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	PWWP2B_ENST00000368609.4_Missense_Mutation_p.P270S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	270										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTCAAGATCCCCTCCCGCGT	0.706000													21	4					0	0	0.001882	0	0
MERTK	10461	broad.mit.edu	37	2	112786220	112786220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:112786220G>A	ENST00000295408.4	+	19	3036	c.2779G>A	c.(2779-2781)Gga>Aga	p.G927R	MERTK_ENST00000409780.1_Missense_Mutation_p.G751R|MERTK_ENST00000421804.2_Missense_Mutation_p.G927R			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	927					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACCTCATGAAGGACGGTACAT	0.532000													28	70					0	0	0.002096	0	0
F10	2159	broad.mit.edu	37	13	113798367	113798367	+	Silent	SNP	C	C	T	rs137995645	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113798367C>T	ENST00000375559.3	+	6	743	c.705C>T	c.(703-705)atC>atT	p.I235I	F10_ENST00000409306.1_Silent_p.I235I|F10_ENST00000375551.3_Silent_p.I235I	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	235	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGGATCGTGGGAGGCC	0.622000													30	74					0	0	0.003271	0	0
TRPC3	7222	broad.mit.edu	37	4	122853824	122853824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:122853824G>A	ENST00000264811.5	-	1	788	c.370C>T	c.(370-372)Cac>Tac	p.H124Y	TRPC3_ENST00000513531.1_Missense_Mutation_p.H124Y|TRPC3_ENST00000379645.3_Missense_Mutation_p.H197Y	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	112					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGCCAGGGTGGTTGAGGATG	0.637000													16	19					0	0	0.004990	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796201	11796201	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11796201C>T	ENST00000344893.3	+	0	2200					NR_028594.1													p.R54*(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CAGTTCCATTCGAAAACATGC	0.353000													21	29					0	0	0.001523	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819947	25819947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:25819947C>T	ENST00000244527.4	-	4	519	c.404G>A	c.(403-405)tGg>tAg	p.W135*	SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.W135*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.W135*|SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.W135*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	135					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TACAACGACCCAAGCTACTCC	0.408000													12	18					0	0	0.001855	0	0
OR6N2	81442	broad.mit.edu	37	1	158746892	158746892	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158746892G>A	ENST00000339258.1	-	1	533	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GAAAGTCACAGAAAATGTGTT	0.448000													21	38					0	0	0.001882	0	0
NAP1L4	4676	broad.mit.edu	37	11	2976993	2976993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2976993G>A	ENST00000380542.4	-	11	1036	c.896C>T	c.(895-897)tCc>tTc	p.S299F	NAP1L4_ENST00000526115.1_Missense_Mutation_p.S299F	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	299					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCCATCCCCGGATGCTAGAAA	0.358000													87	175					0	0	0.003610	0	0
DUSP9	1852	broad.mit.edu	37	X	152915590	152915590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:152915590C>T	ENST00000342782.3	+	4	1250	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	DUSP9_ENST00000370167.4_Missense_Mutation_p.P329S			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	329	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAACATCTCCCCCAACTTCAA	0.587000													194	155					0	0	0.003610	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654354	61654354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:61654354G>A	ENST00000397985.2	+	7	1223	c.967G>A	c.(967-969)Gag>Aag	p.E323K	SERPINB8_ENST00000353706.2_Missense_Mutation_p.E323K|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E141K|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	323					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGAGGTCAATGAGGAAGGCAC	0.522000													11	27					0	0	0.000978	0	0
ADPRH	141	broad.mit.edu	37	3	119306719	119306719	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:119306719C>T	ENST00000478399.1	+	4	2473	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Silent_p.S356S|ADPRH_ENST00000357003.3_Silent_p.S356S|ADPRH_ENST00000465513.1_Silent_p.S356S			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	356					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTGTAATTTCCCTTTAGGGAG	0.398000													30	95					0	0	0.002836	0	0
FBLN7	129804	broad.mit.edu	37	2	112942913	112942913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:112942913C>T	ENST00000331203.2	+	7	1215	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FBLN7_ENST00000409450.3_Missense_Mutation_p.P269L|FBLN7_ENST00000409903.1_Missense_Mutation_p.P315L|FBLN7_ENST00000409667.3_Missense_Mutation_p.P181L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	315	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGACGTCTCCATTGTGAGTA	0.587000													21	48					0	0	0.002780	0	0
ZNF774	342132	broad.mit.edu	37	15	90902176	90902176	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:90902176G>A	ENST00000354377.3	+	3	384	c.198G>A	c.(196-198)agG>agA	p.R66R	ZNF774_ENST00000558115.1_3'UTR|ZNF774_ENST00000379090.5_Silent_p.R66R	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATCCCGAGGGAAAGCCACA	0.478000													18	31					0	0	0.004990	0	0
ABCG8	64241	broad.mit.edu	37	2	44102392	44102392	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:44102392C>T	ENST00000272286.2	+	11	1686	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	532	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCTGCACTTCCTGCTGGTGT	0.632000													138	321					0	0	0.003610	0	0
CSF3	1440	broad.mit.edu	37	17	38173074	38173074	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38173074C>T	ENST00000331769.2	+	4	681	c.465C>T	c.(463-465)gcC>gcT	p.A155A	CSF3_ENST00000577675.1_Silent_p.A119A|CSF3_ENST00000394149.3_Silent_p.A159A|CSF3_ENST00000225474.2_Silent_p.A162A|CSF3_ENST00000394148.3_Silent_p.A126A			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	162					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGCCCCTGCCCTGCAGCCCA	0.622000													20	53					0	0	0.002780	0	0
CAD	790	broad.mit.edu	37	2	27461044	27461044	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27461044C>G	ENST00000264705.4	+	30	5011	c.4849C>G	c.(4849-4851)Cgg>Ggg	p.R1617G	CAD_ENST00000403525.1_Missense_Mutation_p.R1554G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1617	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCACGTGGCACGGAAGGAGGA	0.577000													8	25					0	0	0.003080	0	0
AUTS2	26053	broad.mit.edu	37	7	70255834	70255834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:70255834C>T	ENST00000342771.4	+	19	3953	c.3632C>T	c.(3631-3633)aCc>aTc	p.T1211I	AUTS2_ENST00000406775.2_Missense_Mutation_p.T1187I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1211										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCAACAAGACCCCTCCGACA	0.677000													16	37					0	0	0.004990	0	0
HECTD1	25831	broad.mit.edu	37	14	31597182	31597182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:31597182G>A	ENST00000399332.1	-	26	5278	c.4790C>T	c.(4789-4791)cCt>cTt	p.P1597L	HECTD1_ENST00000553700.1_Missense_Mutation_p.P1597L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1597	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTCAAATTAGGGAAACTCTG	0.388000													5	28					0	0	0.001168	0	0
BEND3	57673	broad.mit.edu	37	6	107391813	107391813	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:107391813G>A	ENST00000429433.2	-	5	1231	c.582C>T	c.(580-582)ttC>ttT	p.F194F	BEND3_ENST00000369042.1_Silent_p.F194F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	194										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TCTGGATCAGGAAGTAGATGT	0.587000													34	2					0	0	0.003755	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249975	3249975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3249975C>T	ENST00000389832.5	-	2	361	c.55G>A	c.(55-57)Gag>Aag	p.E19K	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.E18K			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCACATCCTCCTGGGCGCCG	0.672000													27	69					0	0	0.001512	0	0
PVR	5817	broad.mit.edu	37	19	45153184	45153184	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45153184C>T	ENST00000425690.3	+	3	830	c.531C>T	c.(529-531)atC>atT	p.I177I	PVR_ENST00000406449.4_Silent_p.I177I|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.I177I|PVR_ENST00000344956.4_Silent_p.I177I	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	177	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CAGCCCAAATCACCTGGCACT	0.632000													94	226					0	0	0.003610	0	0
TTC7B	145567	broad.mit.edu	37	14	91044585	91044585	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:91044585G>A	ENST00000357056.2	-	20	2347	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Silent_p.L725L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	725							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACATTGGGAAGAGGTTGGCAG	0.577000													56	75					0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163374419	163374419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:163374419G>A	ENST00000332142.5	-	4	812	c.713C>T	c.(712-714)tCc>tTc	p.S238F	KCNH7_ENST00000328032.4_Missense_Mutation_p.S238F|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	238					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTGGGAGAGGAATGGTCAAG	0.488000													4	5					0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40357524	40357524	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40357524G>A	ENST00000221347.6	-	34	15796	c.15789C>T	c.(15787-15789)tcC>tcT	p.S5263S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5263	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGGCAGCGGGAAGAGAGCT	0.597000													14	33					0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2876082	2876082	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:2876082T>C	ENST00000602557.1	-	53	8504	c.7949A>G	c.(7948-7950)aAc>aGc	p.N2650S	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.N2649S|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.N2650S|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2650	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGCCGGTGTTGCACGTAAA	0.493000													59	190					0	0	0.003610	0	0
USP19	10869	broad.mit.edu	37	3	49154918	49154918	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49154918G>A	ENST00000453664.1	-	5	876	c.558C>T	c.(556-558)caC>caT	p.H186H	USP19_ENST00000417901.1_Silent_p.H186H|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Silent_p.H124H|USP19_ENST00000398892.3_Silent_p.H124H|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Silent_p.H186H|USP19_ENST00000434032.2_Silent_p.H186H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	186	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGTGTCAGGTGCAGGAGAC	0.552000													43	28					0	0	0.001951	0	0
GK2	2712	broad.mit.edu	37	4	80329014	80329014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:80329014C>T	ENST00000358842.3	-	1	358	c.341G>A	c.(340-342)tGg>tAg	p.W114*		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	114					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAGATCAAGCCACACCACAGC	0.428000													40	68					0	0	0.005524	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922858	48922858	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48922858C>T	ENST00000263269.3	+	9	1966	c.1878C>T	c.(1876-1878)acC>acT	p.T626T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	626						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCGGTTCAACCTTCACCATTG	0.522000													18	40					0	0	0.001882	0	0
AE000661.37	0	broad.mit.edu	37	14	22891799	22891799	+	RNA	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22891799T>C	ENST00000514473.2	-	0	225				AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|TRDV2_ENST00000390469.2_RNA																							TAGGGGTCCCTGCCACCCTCA	0.498000													14	16					0	0	0.002450	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066138	153066138	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153066138C>T	ENST00000368751.1	-	2	164	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2E_ENST00000368750.3_Silent_p.P30P|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.622000													87	105					0	0	0.003610	0	0
ERN2	10595	broad.mit.edu	37	16	23713529	23713529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:23713529C>T	ENST00000256797.4	-	11	1459	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R	ERN2_ENST00000457008.2_Missense_Mutation_p.G383R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	383					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCTGCAGTTCCACTCCCCAGG	0.622000													76	47					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71103246	71103246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71103246G>A	ENST00000393567.2	-	14	2048	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	HYDIN_ENST00000321489.5_Missense_Mutation_p.S633F|HYDIN_ENST00000541601.1_Missense_Mutation_p.S650F|HYDIN_ENST00000538248.1_Missense_Mutation_p.S660F|HYDIN_ENST00000448691.1_Missense_Mutation_p.S633F|HYDIN_ENST00000448089.2_Missense_Mutation_p.S633F|HYDIN_ENST00000288168.10_Missense_Mutation_p.S650F|HYDIN_ENST00000393550.2_Missense_Mutation_p.S648F	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	633										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCATTGAGGATATTTCTTC	0.478000													8	8					0	0	0.000673	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024710	16024710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:16024710G>A	ENST00000326742.7	-	11	1343	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	CYP4F11_ENST00000402119.3_Silent_p.I469I|CYP4F11_ENST00000248041.7_Silent_p.I469I			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	0					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACGCCTGCCCGATGCAGTTTC	0.627000													7	12					0	0	0.003080	0	0
DDX10	1662	broad.mit.edu	37	11	108547830	108547830	+	Missense_Mutation	SNP	C	C	T	rs147675016		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:108547830C>T	ENST00000526794.1	+	4	429	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	DDX10_ENST00000322536.3_Missense_Mutation_p.R133C			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCCTTATATCGTCTGCAATG	0.448000			T	NUP98	AML*								61	35					0	0	0.003610	0	0
DNAJB6	10049	broad.mit.edu	37	7	157159237	157159237	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:157159237T>A	ENST00000262177.4	+	4	422	c.217T>A	c.(217-219)Tta>Ata	p.L73I	DNAJB6_ENST00000452797.2_Missense_Mutation_p.L24I|DNAJB6_ENST00000429029.2_Missense_Mutation_p.L73I|DNAJB6_ENST00000443280.1_Missense_Mutation_p.L73I	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	73	Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAAAGAAGGATTAAATGGTGG	0.373000													41	42					0	0	0.003610	0	0
THBS1	7057	broad.mit.edu	37	15	39886554	39886554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:39886554G>A	ENST00000260356.5	+	21	3583	c.3418G>A	c.(3418-3420)Gat>Aat	p.D1140N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1140	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACCCATCTATGATAAAACCTA	0.388000													17	70					0	0	0.006122	0	0
DSG2	1829	broad.mit.edu	37	18	29116337	29116337	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:29116337C>T	ENST00000261590.8	+	11	1805	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	532					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCAGTTTCTCCGTCATTGACA	0.433000													6	21					0	0	0.003080	0	0
CACNA1F	778	broad.mit.edu	37	X	49075368	49075368	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49075368G>A	ENST00000376265.2	-	22	2800	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	CACNA1F_ENST00000323022.5_Silent_p.S902S|CACNA1F_ENST00000376251.1_Silent_p.S848S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	913					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CAGTGAAAATGGAGGTGAAGG	0.542000													12	27					0	0	0.004007	0	0
CPLX4	339302	broad.mit.edu	37	18	56985680	56985680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:56985680C>T	ENST00000299721.3	-	1	201	c.15G>A	c.(13-15)atG>atA	p.M5I	CPLX4_ENST00000587244.1_Missense_Mutation_p.M5I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	5					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TCATACTTTTCATAAGGAAAG	0.368000													7	15					0	0	0.003080	0	0
FMO5	2330	broad.mit.edu	37	1	146658773	146658773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:146658773C>T	ENST00000254090.4	-	9	1696	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	436						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAAGCTCTTCCATGGTATCTA	0.488000													16	35					0	0	0.003163	0	0
CD163	9332	broad.mit.edu	37	12	7636224	7636224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7636224C>T	ENST00000359156.4	-	12	3029	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.E976K|CD163_ENST00000541972.1_Missense_Mutation_p.E931K|CD163_ENST00000432237.2_Missense_Mutation_p.E943K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	943	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCCAGATCTCCACACGTCCA	0.483000													11	6					0	0	0.001368	0	0
NCALD	83988	broad.mit.edu	37	8	102705022	102705022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:102705022C>T	ENST00000395923.1	-	5	940	c.481G>A	c.(481-483)Gac>Aac	p.D161N	NCALD_ENST00000220931.6_Missense_Mutation_p.D161N|NCALD_ENST00000311028.3_Missense_Mutation_p.D161N|NCALD_ENST00000519508.2_Missense_Mutation_p.D161N|NCALD_ENST00000521599.1_Missense_Mutation_p.D161N|NCALD_ENST00000522951.1_Missense_Mutation_p.D161N	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	161	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTCCTACCGTCTCTATTGGTG	0.507000													13	68					0	0	0.002450	0	0
POTEH	23784	broad.mit.edu	37	22	16279245	16279245	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:16279245T>A	ENST00000343518.6	-	4	1029	c.978A>T	c.(976-978)aaA>aaT	p.K326N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	326										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGATTAAAAATTTCACCACTT	0.333000													23	542					0	0	0.003330	0	0
LRRC2	79442	broad.mit.edu	37	3	46568951	46568951	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:46568951G>A	ENST00000395905.3	-	7	1286	c.894C>T	c.(892-894)ctC>ctT	p.L298L	LRRC2_ENST00000296144.3_Silent_p.L298L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	298										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GGGCAGTTGGGAGCTCCACCA	0.478000													10	13					0	0	0.006214	0	0
EDEM3	80267	broad.mit.edu	37	1	184681685	184681685	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:184681685A>G	ENST00000318130.8	-	14	1684	c.1418T>C	c.(1417-1419)tTa>tCa	p.L473S	EDEM3_ENST00000367512.3_Missense_Mutation_p.L430S	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	473					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCAGCAAATAACAGGTAAAG	0.279000													8	18					0	0	0.003080	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26899811	26899811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:26899811C>T	ENST00000374168.2	+	21	2198	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.P691S|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.P666S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.P590S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P671S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.P590S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	682					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGACAAGCTTCCCCAAAGCCA	0.602000													65	7					0	0	0.003610	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851517	102851517	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:102851517T>G	ENST00000264257.2	+	11	1584	c.1458T>G	c.(1456-1458)atT>atG	p.I486M	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.I368M|IL1RL2_ENST00000539491.1_Missense_Mutation_p.I486M	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	486	TIR.			I -> V (in Ref. 1; AAG21368).	cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTATTCTCATTGAGCTGGAGA	0.517000													41	93					0	0	0.006999	0	0
LRBA	987	broad.mit.edu	37	4	151835476	151835476	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:151835476G>A	ENST00000535741.1	-	9	1505	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	LRBA_ENST00000510413.1_Silent_p.F344F|LRBA_ENST00000507224.1_Silent_p.F344F|LRBA_ENST00000357115.3_Silent_p.F344F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	344						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATGAGCCCAGGAAACATTTGT	0.318000													11	16					0	0	0.001368	0	0
FAT4	79633	broad.mit.edu	37	4	126242647	126242647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:126242647C>T	ENST00000394329.3	+	1	5094	c.5081C>T	c.(5080-5082)gCc>gTc	p.A1694V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1694	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGACCGCAGCCATTCTGGAC	0.443000													29	34					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179631253	179631253	+	Silent	SNP	G	G	A	rs150569468		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179631253G>A	ENST00000589042.1	-	41	9782	c.9558C>T	c.(9556-9558)atC>atT	p.I3186I	TTN_ENST00000591111.1_Silent_p.I3186I|TTN_ENST00000342992.6_Silent_p.I3186I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I3140I|TTN_ENST00000360870.5_Silent_p.I3186I|TTN_ENST00000460472.2_Silent_p.I3140I|TTN_ENST00000342175.6_Silent_p.I3140I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2921							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)			CTTGGAAATTGATTTCAATGC	0.413000													7	15					0	0	0.003080	0	0
UNC5B	219699	broad.mit.edu	37	10	73057762	73057762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:73057762C>T	ENST00000335350.6	+	16	3003	c.2587C>T	c.(2587-2589)Cgc>Tgc	p.R863C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R852C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	863					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTGTCCATCCGCCAGAAGAT	0.577000													25	20					0	0	0.003330	0	0
XIST	7503	broad.mit.edu	37	X	73053138	73053138	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73053138G>A	ENST00000429829.1	-	0	11507					NR_001564.2																						GATTCTCAAAGGGAAAGATAT	0.433000													4	15					0	0	0.000248	0	0
OR1J4	26219	broad.mit.edu	37	9	125282099	125282099	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125282099A>C	ENST00000340750.1	+	1	680	c.680A>C	c.(679-681)aAg>aCg	p.K227T		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACCATCCTCAAGGCTCCATCT	0.453000													26	50					0	0	0.006320	0	0
ZNF831	128611	broad.mit.edu	37	20	57769221	57769221	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57769221G>A	ENST00000371030.2	+	1	3147	c.3147G>A	c.(3145-3147)agG>agA	p.R1049R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1049						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCTCCCAGGGAGGCTACCT	0.637000													7	15					0	0	0.001984	0	0
STK32B	55351	broad.mit.edu	37	4	5418633	5418633	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:5418633C>T	ENST00000282908.5	+	6	956	c.534C>T	c.(532-534)tcC>tcT	p.S178S	STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Silent_p.S131S	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	178	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AAAGGGCTTCCTCCATGGCTG	0.498000													4	2					0	0	0.001984	0	0
CD70	970	broad.mit.edu	37	19	6586121	6586121	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6586121C>T	ENST00000245903.3	-	3	641	c.492G>A	c.(490-492)ggG>ggA	p.G164G	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	164					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						AGAGTGTGTCCCCTCGGGCCA	0.612000													19	64					0	0	0.002299	0	0
ADAM18	8749	broad.mit.edu	37	8	39495137	39495137	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:39495137G>A	ENST00000541111.1	+	0	564				ADAM18_ENST00000379866.1_Missense_Mutation_p.D224N|ADAM18_ENST00000265707.5_Missense_Mutation_p.D248N			Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACCAGTGGGGATGCTGATGA	0.383000													8	10					0	0	0.004482	0	0
LPHN3	23284	broad.mit.edu	37	4	62363013	62363013	+	Translation_Start_Site	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:62363013T>A	ENST00000512091.1	+	3	749	c.2T>A	c.(1-3)aTg>aAg	p.M1K	LPHN3_ENST00000507164.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000509896.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000508693.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000514157.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000506700.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000508946.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000514591.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000506720.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000545650.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000506746.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000504896.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000514996.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000507625.1_Start_Codon_SNP_p.M1K|LPHN3_ENST00000511324.1_Start_Codon_SNP_p.M1K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1					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						TAGACAGCCATGTGGCCATCG	0.353000													11	21					0	0	0.001368	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354000	134354000	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:134354000C>T	ENST00000357304.4	+	17	4807	c.4752C>T	c.(4750-4752)gcC>gcT	p.A1584A	PRRC2B_ENST00000458550.1_Silent_p.A890A|PRRC2B_ENST00000405995.1_Silent_p.A890A|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1584							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGAGCAGGCCGTGCAGGTGA	0.627000											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	17					0	0	0.002222	0	0
TUBB1	81027	broad.mit.edu	37	20	57598961	57598961	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57598961C>A	ENST00000217133.1	+	4	748	c.479C>A	c.(478-480)cCg>cAg	p.P160Q		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	160					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAGGAGTACCCGGACCGGATC	0.582000													7	190					0.00307968	0.00613492	0.003080	1	0
EML5	161436	broad.mit.edu	37	14	89202718	89202718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:89202718G>A	ENST00000554922.1	-	7	1287	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	EML5_ENST00000352093.5_Missense_Mutation_p.R347C|EML5_ENST00000380664.5_Missense_Mutation_p.R347C	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	347						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGACCGAACGATCATCACTT	0.423000													150	158					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158609735	158609735	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158609735C>T	ENST00000368148.3	-	34	4980	c.4800G>A	c.(4798-4800)ggG>ggA	p.G1600G	SPTA1_ENST00000368147.3_Silent_p.G1600G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1600					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTTCCCTTTGTCAT	0.473000													27	13					0	0	0.007291	0	0
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:36767803G>A	ENST00000244751.2	-	4	852	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.							p.F76F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552000													22	32					0	0	0.003954	0	0
CYB5R3	1727	broad.mit.edu	37	22	43015823	43015823	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:43015823G>A	ENST00000361740.4	-	9	960	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	CYB5R3_ENST00000352397.5_Silent_p.L288L|CYB5R3_ENST00000402438.1_Silent_p.L265L|CYB5R3_ENST00000407332.1_Silent_p.L265L|CYB5R3_ENST00000396303.3_Silent_p.L265L|CYB5R3_ENST00000407623.3_Silent_p.L265L	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	288					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACGTGGTCCAGGTTGGGAAGG	0.692000													7	22					0	0	0.003080	0	0
LRFN5	145581	broad.mit.edu	37	14	42356795	42356795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:42356795C>T	ENST00000554171.1	+	5	3399	c.967C>T	c.(967-969)Cct>Tct	p.P323S	LRFN5_ENST00000554120.1_Missense_Mutation_p.P323S|LRFN5_ENST00000298119.4_Missense_Mutation_p.P323S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	323	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGGATTTCTCCTGAAGGGAA	0.453000										HNSCC(30;0.082)			53	44					0	0	0.003610	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484956	73484956	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:73484956C>T	ENST00000314256.7	+	7	1123	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KIAA0195_ENST00000375248.5_Silent_p.F253F|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	243					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCGGCTTTTCCGTGTCCTTG	0.637000													48	44					0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43813588	43813588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43813588G>A	ENST00000382031.1	+	5	662	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	MAP1A_ENST00000300231.5_5'UTR|MAP1A_ENST00000399453.1_5'UTR			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	0						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGCTTAGGGGAAGGTGATTG	0.542000													13	49					0	0	0.001368	0	0
XIRP2	129446	broad.mit.edu	37	2	168099832	168099832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168099832C>T	ENST00000409195.1	+	9	2019	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P422S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P644S|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	469					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						AGAGAAAATTCCTGAGCTAGC	0.433000													15	19					0	0	0.002450	0	0
ZP4	57829	broad.mit.edu	37	1	238053477	238053477	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:238053477C>T	ENST00000366570.4	-	2	334		c.e2-1		RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCTTGGTTGTCTGGAGGGGTG	0.547000													17	28					0	0	0.003954	0	0
MYH3	4621	broad.mit.edu	37	17	10538190	10538190	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10538190G>A	ENST00000583535.1	-	31	4410	c.4323C>T	c.(4321-4323)gcC>gcT	p.A1441A	MYH3_ENST00000226209.7_Silent_p.A1441A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1441					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTCCAGAGCGGCGGCCAAGG	0.527000													47	76					0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149216377	149216377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:149216377C>T	ENST00000407073.1	+	6	1047	c.50C>T	c.(49-51)cCa>cTa	p.P17L	MBD5_ENST00000404807.1_Missense_Mutation_p.P17L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	17	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGAGGTCTTCCAGCTATACAA	0.448000													4	15					0	0	0.001168	0	0
ENPP7	339221	broad.mit.edu	37	17	77708958	77708958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:77708958G>A	ENST00000328313.5	+	3	737	c.516G>A	c.(514-516)tgG>tgA	p.W172*		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	172					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGACGGAGTGGAGAGCGAACA	0.592000													22	44					0	0	0.002299	0	0
LRFN2	57497	broad.mit.edu	37	6	40359725	40359725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:40359725C>T	ENST00000338305.6	-	3	2869	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	776						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAAAAGTCCCCCGGGCCCC	0.607000													23	27					0	0	0.001882	0	0
GDF6	392255	broad.mit.edu	37	8	97156932	97156932	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:97156932G>A	ENST00000287020.5	-	2	1326	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	409					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CGGGGTCCATGGAGTTCATCA	0.597000													35	30					0	0	0.004878	0	0
RNASE10	338879	broad.mit.edu	37	14	20978885	20978885	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20978885C>T	ENST00000430083.1	+	2	743	c.339C>T	c.(337-339)atC>atT	p.I113I	RNASE10_ENST00000328444.5_Silent_p.I85I			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	85						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AAGATCCCATCCTCGGTGAAG	0.517000													9	34					0	0	0.004482	0	0
TRPM6	140803	broad.mit.edu	37	9	77407677	77407677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:77407677C>T	ENST00000451710.3	-	19	2638	c.2401G>A	c.(2401-2403)Gat>Aat	p.D801N	TRPM6_ENST00000449912.2_Missense_Mutation_p.D796N|TRPM6_ENST00000360774.1_Missense_Mutation_p.D801N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D801N|TRPM6_ENST00000361255.3_Missense_Mutation_p.D796N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	801					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTCCAAATCATACTCTTTC	0.343000													10	22					0	0	0.000673	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170236	207170236	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:207170236G>A	ENST00000374423.3	+	5	1370	c.984G>A	c.(982-984)aaG>aaA	p.K328K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	328							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTATTGCAAAGAACCATGAGG	0.368000													10	11					0	0	0.006214	0	0
PLEC	5339	broad.mit.edu	37	8	144997972	144997972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:144997972G>A	ENST00000322810.4	-	31	6705	c.6536C>T	c.(6535-6537)gCc>gTc	p.A2179V	PLEC_ENST00000356346.3_Missense_Mutation_p.A2028V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2065V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2010V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2042V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2046V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2042V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2020V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2069V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2179	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCTGGGCGGCCTCCTGGGC	0.697000													5	16					0	0	0.001168	0	0
TENM2	57451	broad.mit.edu	37	5	167675294	167675294	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:167675294G>A	ENST00000519204.1	+	26	7105	c.6987G>A	c.(6985-6987)aaG>aaA	p.K2329K	TENM2_ENST00000520394.1_Silent_p.K2211K|TENM2_ENST00000403607.2_Silent_p.K2274K|TENM2_ENST00000545108.1_Silent_p.K2449K|TENM2_ENST00000518659.1_Silent_p.K2450K					teneurin transmembrane protein 2																		ACGTGGGCAAGGAGCCGGCCC	0.517000													15	29					0	0	0.003163	0	0
IFT172	26160	broad.mit.edu	37	2	27667965	27667965	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27667965G>A	ENST00000260570.3	-	47	5179	c.5076C>T	c.(5074-5076)ccC>ccT	p.P1692P	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1692					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCTCAGAATGGGGTATCCTG	0.468000													26	70					0	0	0.005443	0	0
FAM65C	140876	broad.mit.edu	37	20	49218919	49218919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:49218919G>A	ENST00000327979.2	-	13	1748	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	FAM65C_ENST00000045083.2_Missense_Mutation_p.P446L|FAM65C_ENST00000535356.1_Missense_Mutation_p.P450L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	446										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGGCAGGGGGTCCTCCCG	0.662000													17	57					0	0	0.007413	0	0
MN1	4330	broad.mit.edu	37	22	28194969	28194969	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:28194969G>A	ENST00000302326.4	-	1	2517	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	521							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgcAGGGACTGGTGGT	0.672000			T	ETV6	"""AML, meningioma"""								5	21					0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40354435	40354435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40354435C>T	ENST00000221347.6	-	35	16041	c.16034G>A	c.(16033-16035)gGg>gAg	p.G5345E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5345	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACCTGGACCCCTGCCTTCTG	0.572000													7	14					0	0	0.003080	0	0
PIBF1	10464	broad.mit.edu	37	13	73372048	73372048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:73372048C>T	ENST00000326291.6	+	5	894	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	186						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTTCAAGGTTCGCTTCTATGA	0.274000													23	48					0	0	0.003954	0	0
C1orf168	199920	broad.mit.edu	37	1	57221595	57221595	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:57221595C>T	ENST00000343433.6	-	7	1184	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	368										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						GAAAATTCTTCCCAGGCTGAA	0.383000													4	9					0	0	0.001168	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417708	25417708	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:25417708C>T	ENST00000549301.1	+	0	486				SNHG14_ENST00000553149.1_RNA																							GCACTCTGGTCTCCTGCACTG	0.607000													18	24					0	0	0.006122	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572111	186572111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186572111G>A	ENST00000412955.2	+	3	494	c.353G>A	c.(352-354)gGa>gAa	p.G118E	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G118E|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G118E			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	118	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TTCAGTGTGGGATTGGAGACT	0.507000													32	55					0	0	0.002445	0	0
DNAH5	1767	broad.mit.edu	37	5	13786369	13786369	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:13786369G>A	ENST00000265104.4	-	52	8843	c.8739C>T	c.(8737-8739)ttC>ttT	p.F2913F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2913					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)					AGAGCTGCAGGAACATATTCA	0.453000									Kartagener syndrome				3	6					0	0	0.004672	0	0
TINAG	27283	broad.mit.edu	37	6	54208096	54208096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:54208096G>A	ENST00000259782.4	+	5	793	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	233					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGGACTCATGGCCCATTGGA	0.388000													5	8					0	0	0.001168	0	0
TLE6	79816	broad.mit.edu	37	19	2987367	2987367	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2987367C>T	ENST00000246112.4	+	8	756	c.555C>T	c.(553-555)ggC>ggT	p.G185G	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Silent_p.G62G	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	62					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		AGGCACCAGGCCTGGTGAGTA	0.627000													22	96					0	0	0.006320	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458880	45458880	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:45458880C>T	ENST00000548424.1	+	0	448																											CTCAGCTCTCCGTTTGGATGT	0.458000													4	3					0	0	0.000248	0	0
RUFY2	55680	broad.mit.edu	37	10	70143670	70143670	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:70143670A>G	ENST00000388768.2	-	10	1255	c.927_splice	c.e10-1	p.V310_splice	RUFY2_ENST00000454950.2_Splice_Site_p.V217_splice|RUFY2_ENST00000399200.2_Splice_Site_p.V241_splice|RUFY2_ENST00000602465.1_Splice_Site_p.V275_splice|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	324						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TACTTTGGTAACCTAGGAAGA	0.353000													35	2					0	0	0.003271	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142941	49142941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49142941G>A	ENST00000055335.6	+	4	1805	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E268K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E251K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	597						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGCCCCAAGGAATCGCCTCC	0.617000													25	33					0	0	0.004656	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:3241350C>T	ENST00000217939.6	-	5	2530	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000													61	46					0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111114710	111114710	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:111114710C>T	ENST00000360467.5	+	24	2061	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	585	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGATGGATTCCCCGGCCTCC	0.622000													49	20					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48615933	48615933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48615933G>A	ENST00000328333.8	-	63	5547	c.5440C>T	c.(5440-5442)Cgt>Tgt	p.R1814C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1814C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1814	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTTCTCCACGGAGGCCTGGA	0.552000													41	89					0	0	0.003610	0	0
BECN1	8678	broad.mit.edu	37	17	40966012	40966012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40966012G>A	ENST00000361523.4	-	10	1127	c.995C>T	c.(994-996)cCt>cTt	p.P332L	BECN1_ENST00000590099.1_Missense_Mutation_p.P332L|BECN1_ENST00000438274.3_Missense_Mutation_p.P256L	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	332					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GTTTCCGTAAGGAACAAGTCG	0.388000													26	55					0	0	0.001786	0	0
GTF3C2	2976	broad.mit.edu	37	2	27559164	27559164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27559164G>A	ENST00000359541.2	-	8	1685	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000416453.2_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S419F|AC109828.1_ENST00000592265.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	419						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGGGCTGGAGAAAAGAGC	0.617000													34	80					0	0	0.003755	0	0
CMYA5	202333	broad.mit.edu	37	5	79027241	79027241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:79027241G>A	ENST00000446378.2	+	2	2684	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	885						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTATCAGACGAAGAGGCAGT	0.483000													8	11					0	0	0.004482	0	0
UNC80	285175	broad.mit.edu	37	2	210658505	210658505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:210658505C>T	ENST00000439458.1	+	7	940	c.860C>T	c.(859-861)tCa>tTa	p.S287L	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S287L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	287						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GCCACCATTTCAGGCTGTCAC	0.478000													42	23					0	0	0.006999	0	0
FLT1	2321	broad.mit.edu	37	13	28877372	28877372	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:28877372T>G	ENST00000282397.4	-	30	4200	c.3949A>C	c.(3949-3951)Aaa>Caa	p.K1317Q	FLT1_ENST00000540678.1_Missense_Mutation_p.K535Q|FLT1_ENST00000543394.1_Missense_Mutation_p.K340Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1317					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CACGCGATTTTCCTTTCCAGC	0.572000													19	40					0	0	0.001216	0	0
PSG4	5672	broad.mit.edu	37	19	43709684	43709684	+	Missense_Mutation	SNP	C	C	T	rs111836776		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:43709684C>T	ENST00000405312.3	-	1	242	c.5G>A	c.(4-6)gGg>gAg	p.G2E	PSG4_ENST00000244295.9_Missense_Mutation_p.G2E|PSG4_ENST00000433626.2_Missense_Mutation_p.G2E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	2					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGAGAGGGGCCCCATGGTCTC	0.592000													20	34					0	0	0.002445	0	0
ICA1	3382	broad.mit.edu	37	7	8257984	8257984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:8257984G>A	ENST00000402384.3	-	6	796	c.530C>T	c.(529-531)tCt>tTt	p.S177F	ICA1_ENST00000422063.2_Missense_Mutation_p.S177F|ICA1_ENST00000407906.1_Missense_Mutation_p.S177F|ICA1_ENST00000401396.1_Missense_Mutation_p.S165F|ICA1_ENST00000406470.2_Missense_Mutation_p.S177F|ICA1_ENST00000265577.7_Missense_Mutation_p.S176F|ICA1_ENST00000396675.3_Missense_Mutation_p.S177F			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	177	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAGCTCCTGAGACACGTCCTT	0.498000													8	27					0	0	0.000673	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189520	11189520	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:11189520A>T	ENST00000382435.4	+	1	1124	c.905A>T	c.(904-906)cAt>cTt	p.H302L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	302	DUF6 2.					integral to membrane											TATATGCTCCATGAGACTGTG	0.572000													128	74					0	0	0.003610	0	0
TMEM182	130827	broad.mit.edu	37	2	103414385	103414385	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:103414385T>A	ENST00000412401.2	+	4	600	c.395T>A	c.(394-396)tTt>tAt	p.F132Y	TMEM182_ENST00000409528.1_Missense_Mutation_p.F36Y|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.F89Y	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	132						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ATCGCAAGCTTTTTGATCATC	0.502000													51	34					0	0	0.003610	0	0
POLR3E	55718	broad.mit.edu	37	16	22337387	22337387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:22337387G>A	ENST00000299853.5	+	18	1821	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S	POLR3E_ENST00000418581.2_Missense_Mutation_p.G516S|POLR3E_ENST00000359210.4_Missense_Mutation_p.G552S|POLR3E_ENST00000564209.1_Missense_Mutation_p.G552S	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	552					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCGCCCCAGGGCTGCGCCAG	0.662000													11	13					0	0	0.001855	0	0
B3GALTL	145173	broad.mit.edu	37	13	31848690	31848690	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:31848690C>T	ENST00000343307.4	+	9	854	c.705C>T	c.(703-705)acC>acT	p.T235T	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	235					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTCCCCTGACCCCAGTGCCTG	0.473000													18	13					0	0	0.006122	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004315	75004315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:75004315C>T	ENST00000373359.2	-	1	764	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	191	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTCGGTTCCCATTCAAGAG	0.512000													11	27					0	0	0.001368	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994736	45994736	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45994736C>T	ENST00000400374.3	+	1	1131	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	367	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCTGCCGCCCCGTGTGCAGGC	0.687000													28	122					0	0	0.007291	0	0
TG	7038	broad.mit.edu	37	8	134042185	134042185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:134042185C>T	ENST00000220616.4	+	41	7196	c.7156C>T	c.(7156-7158)Cgt>Tgt	p.R2386C	TG_ENST00000519543.1_Missense_Mutation_p.R519C|TG_ENST00000377869.1_Missense_Mutation_p.R2329C|TG_ENST00000542445.1_Missense_Mutation_p.R756C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2386					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAGCAGACCGTGGCGGGGC	0.647000													29	49					0	0	0.003610	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530321	5530321	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5530321G>A	ENST00000311659.4	-	2	615	c.468C>T	c.(466-468)tcC>tcT	p.S156S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	156										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCATCAGGGAGCTTGGCT	0.587000													4	6					0	0	0.000248	0	0
FAM83D	81610	broad.mit.edu	37	20	37570694	37570694	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:37570694C>T	ENST00000217429.4	+	2	707	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	192					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTGTATATCCTTCTGGACC	0.448000													30	41					0	0	0.002836	0	0
HDAC8	55869	broad.mit.edu	37	X	71710783	71710783	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:71710783G>A	ENST00000439122.2	-	6	910	c.624C>T	c.(622-624)ttC>ttT	p.F208F	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373573.3_Silent_p.F208F|HDAC8_ENST00000373589.4_Silent_p.F117F|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373561.4_Silent_p.F208F|HDAC8_ENST00000373571.1_Silent_p.F208F|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000429103.2_Silent_p.F13F|HDAC8_ENST00000373559.4_Intron	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	208	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	ACTTGCCTGGGAAAAATCCTG	0.383000													5	3					0	0	0.001168	0	0
CCDC37	348807	broad.mit.edu	37	3	126133021	126133021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126133021C>T	ENST00000510833.1	+	4	316	c.224C>T	c.(223-225)tCc>tTc	p.S75F	CCDC37_ENST00000505024.1_Splice_Site_p.S75_splice|CCDC37_ENST00000352312.1_Splice_Site_p.S75_splice|CCDC37_ENST00000393425.1_Splice_Site_p.S75_splice			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	75										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGGCTCTCTCCGTGAGTATC	0.552000													72	107					0	0	0.003610	0	0
ANLN	54443	broad.mit.edu	37	7	36483366	36483366	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:36483366C>T	ENST00000265748.2	+	22	3194	c.2973C>T	c.(2971-2973)acC>acT	p.T991T	ANLN_ENST00000396068.2_Silent_p.T954T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	991	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						TTTTCCAGACCATATTTGAAG	0.373000													11	11					0	0	0.001368	0	0
STRA6	64220	broad.mit.edu	37	15	74473123	74473123	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74473123C>T	ENST00000323940.5	-	18	2085	c.1840_splice	c.e18+1	p.G614_splice	STRA6_ENST00000574278.1_Splice_Site_p.G629_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Splice_Site_p.G653_splice|STRA6_ENST00000535552.1_Splice_Site_p.G651_splice|STRA6_ENST00000449139.2_Splice_Site_p.G614_splice|STRA6_ENST00000423167.2_Splice_Site_p.G605_splice|STRA6_ENST00000416286.3_Splice_Site_p.G606_splice|STRA6_ENST00000395105.4_Splice_Site_p.G614_splice	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	614					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GAGGGCGCACCTTCGTCTTCC	0.617000													40	73					0	0	0.001951	0	0
RBM46	166863	broad.mit.edu	37	4	155719262	155719262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:155719262G>A	ENST00000510397.1	+	3	630	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	RBM46_ENST00000514866.1_Missense_Mutation_p.E151K|RBM46_ENST00000281722.3_Missense_Mutation_p.E151K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	151	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATTCCCAAGGAAAAGAAGAA	0.328000													16	21					0	0	0.004990	0	0
SORCS3	22986	broad.mit.edu	37	10	107006989	107006989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:107006989C>T	ENST00000369701.3	+	22	3232	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1002						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATTTCCAGTCCCAGCTTTTA	0.458000													8	3					0	0	0.000673	0	0
ACAN	176	broad.mit.edu	37	15	89381985	89381985	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:89381985C>T	ENST00000439576.2	+	3	536	c.162C>T	c.(160-162)atC>atT	p.I54I	ACAN_ENST00000352105.7_Silent_p.I54I|ACAN_ENST00000558207.1_Silent_p.I54I|ACAN_ENST00000561243.1_Silent_p.I54I|ACAN_ENST00000559004.1_Silent_p.I54I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	54					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTATTTCATCGACCCCATGC	0.622000													18	63					0	0	0.004990	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377663	138377663	+	Missense_Mutation	SNP	C	C	T	rs146635515	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138377663C>T	ENST00000356818.2	+	4	1856	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PPP1R26_ENST00000401470.3_Missense_Mutation_p.P436L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P436L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P436L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P436L	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	436						nucleolus	protein binding										ACCATGGACCCTGGTCCAGGG	0.587000													9	26					0	0	0.006214	0	0
DNTT	1791	broad.mit.edu	37	10	98080482	98080482	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:98080482C>T	ENST00000419175.1	+	4	785	c.615C>T	c.(613-615)atC>atT	p.I205I	DNTT_ENST00000371174.2_Silent_p.I205I	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	205	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CATTCACAATCATCAGTATGA	0.428000													11	2					0	0	0.001368	0	0
KDM7A	80853	broad.mit.edu	37	7	139793864	139793864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:139793864G>A	ENST00000397560.2	-	18	2546	c.2449C>T	c.(2449-2451)Cat>Tat	p.H817Y		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		817					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACCTGAGGATGAAATCTGGAA	0.313000													34	154					0	0	0.003755	0	0
ASH1L	55870	broad.mit.edu	37	1	155385688	155385688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155385688G>A	ENST00000368346.3	-	6	6494	c.5855C>T	c.(5854-5856)cCc>cTc	p.P1952L	ASH1L_ENST00000392403.3_Missense_Mutation_p.P1952L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1952					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)			AGAAGGACTGGGAATCTCAAC	0.388000													9	50					0	0	0.006214	0	0
KRT71	112802	broad.mit.edu	37	12	52940080	52940080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52940080C>T	ENST00000267119.5	-	7	1384	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	439	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTGCACTCCTCGCTCTCCAGT	0.612000													13	43					0	0	0.002450	0	0
ENTHD2	146705	broad.mit.edu	37	17	79205749	79205749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79205749G>A	ENST00000374769.2	-	9	824	c.347C>T	c.(346-348)tCc>tTc	p.S116F	ENTHD2_ENST00000300714.3_Missense_Mutation_p.S200F|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA					ENTH domain containing 2																		GTTCTGGGAGGAATTCTGAGA	0.657000													28	75					0	0	0.006320	0	0
ADAM9	8754	broad.mit.edu	37	8	38880705	38880705	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:38880705C>T	ENST00000487273.2	+	9	853	c.775C>T	c.(775-777)Cta>Tta	p.L259L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	259	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TCGAATTGTGCTAGTTGGACT	0.373000													20	68					0	0	0.001523	0	0
CSMD3	114788	broad.mit.edu	37	8	113303903	113303903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:113303903C>T	ENST00000297405.5	-	56	9054	c.8810G>A	c.(8809-8811)gGa>gAa	p.G2937E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2897E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2768E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2867E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2937	Sushi 20.					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						GGCTGGAATTCCAGGATCAGA	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	77					0	0	0.006230	0	0
NMUR2	56923	broad.mit.edu	37	5	151771998	151771998	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:151771998G>A	ENST00000255262.3	-	4	1167	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	334					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATGCTGCCTGGAAGCGGCGAG	0.502000													37	26					0	0	0.007835	0	0
CHST7	56548	broad.mit.edu	37	X	46434747	46434747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:46434747C>T	ENST00000276055.3	+	1	1529	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	461					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CGCCTACCCTCGCAGCGGAGA	0.741000													19	9					0	0	0.002780	0	0
BMP5	653	broad.mit.edu	37	6	55739256	55739256	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55739256G>A	ENST00000370830.3	-	1	1106	c.408C>T	c.(406-408)acC>acT	p.T136T	BMP5_ENST00000446683.2_Silent_p.T136T	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	136					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GACTCTGGGTGGTCAGAGGAG	0.498000													8	3					0	0	0.003080	0	0
MYH7B	57644	broad.mit.edu	37	20	33586701	33586701	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:33586701G>A	ENST00000262873.7	+	33	4391	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1391						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAGGACCGAGGAGCTGGAGG	0.637000													13	19					0	0	0.001368	0	0
WASF3	10810	broad.mit.edu	37	13	27255242	27255242	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:27255242T>A	ENST00000361042.4	+	8	984	c.759T>A	c.(757-759)caT>caA	p.H253Q	WASF3_ENST00000335327.5_Missense_Mutation_p.H256Q			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	256					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCCCAACCATTCTCTGCACC	0.527000													51	145					0	0	0.003610	0	0
ZNF700	90592	broad.mit.edu	37	19	12058372	12058372	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:12058372C>T	ENST00000482090.1	+	2	598	c.180C>T	c.(178-180)aaC>aaT	p.N60N	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Silent_p.N78N			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTACCAAAACCCCAGAAGAA	0.333000													35	55					0	0	0.007835	0	0
FLG2	388698	broad.mit.edu	37	1	152326002	152326002	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152326002C>T	ENST00000388718.5	-	3	4332	c.4260G>A	c.(4258-4260)agG>agA	p.R1420R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1420							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCAGATCCCCTTCTTCCAG	0.532000													29	46					0	0	0.002836	0	0
BTBD9	114781	broad.mit.edu	37	6	38560550	38560550	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38560550A>G	ENST00000481247.1	-	4	767	c.616T>C	c.(616-618)Tta>Cta	p.L206L	BTBD9_ENST00000314100.6_Silent_p.L138L|BTBD9_ENST00000419706.2_Silent_p.L147L|BTBD9_ENST00000408958.1_Silent_p.L138L|BTBD9_ENST00000403056.1_Silent_p.L206L	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	206	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAGTTTAATAAGGCTAGGAAA	0.383000													16	39					0	0	0.004007	0	0
B4GALT3	8703	broad.mit.edu	37	1	161145651	161145651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:161145651C>T	ENST00000319769.5	-	3	422	c.200G>A	c.(199-201)gGt>gAt	p.G67D	PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.G67D|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	67					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGCTGGAGGACCCCCTGGGGC	0.562000													32	157					0	0	0.002445	0	0
VWA3B	200403	broad.mit.edu	37	2	98834477	98834477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98834477C>T	ENST00000477737.1	+	14	2209	c.2005C>T	c.(2005-2007)Cca>Tca	p.P669S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	669	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCCACTCCCCCAGAGGCTGT	0.458000													6	32					0	0	0.001984	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924029	230924029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:230924029C>T	ENST00000295190.4	-	2	498	c.40G>A	c.(40-42)Gat>Aat	p.D14N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	14						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TTGGGGCCATCTTCAAAATCA	0.383000													9	30					0	0	0.006214	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443059	1443059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1443059C>T	ENST00000270349.9	-	2	381	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R85Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	85					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GTAGGGGAACCGCCAGACGTT	0.637000													48	44					0	0	0.003610	0	0
TRIM9	114088	broad.mit.edu	37	14	51446146	51446146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:51446146C>T	ENST00000298355.3	-	9	3150	c.2029G>A	c.(2029-2031)Ggc>Agc	p.G677S	TRIM9_ENST00000338969.5_Missense_Mutation_p.G758S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	677	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAGAAGAGGCCCTCCACGTTA	0.502000													49	118					0	0	0.003610	0	0
FBXO47	494188	broad.mit.edu	37	17	37094849	37094849	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37094849T>A	ENST00000378079.2	-	10	1419	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	407										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTGCAGCATTTCCATTATAAC	0.393000													59	132					0	0	0.003610	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199187	90199187	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:90199187C>T	ENST00000390276.2	+	0	529																											CTAACAGTTTCCCTCCCACAG	0.532000													9	19					0	0	0.001855	0	0
DENND5B	160518	broad.mit.edu	37	12	31648823	31648823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:31648823C>T	ENST00000389082.5	-	2	422	c.158G>A	c.(157-159)aGa>aAa	p.R53K	DENND5B_ENST00000354285.4_Missense_Mutation_p.R75K|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000536562.1_Missense_Mutation_p.R88K|DENND5B_ENST00000306833.6_Missense_Mutation_p.R88K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	53	UDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTGAATGTTCTTCTCAAAGG	0.343000													14	28					0	0	0.003163	0	0
LRRC48	83450	broad.mit.edu	37	17	17880955	17880955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17880955G>A	ENST00000313838.8	+	4	422	c.43G>A	c.(43-45)Gat>Aat	p.D15N	LRRC48_ENST00000584166.1_Missense_Mutation_p.D15N|LRRC48_ENST00000411504.2_Missense_Mutation_p.D15N|LRRC48_ENST00000399187.1_Missense_Mutation_p.D15N|LRRC48_ENST00000399182.1_Missense_Mutation_p.D15N	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	15						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGTGATGGACGATGACATGCT	0.602000													24	61					0	0	0.004656	0	0
CLIP4	79745	broad.mit.edu	37	2	29368224	29368224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:29368224C>T	ENST00000320081.5	+	8	1267	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CLIP4_ENST00000401605.1_Missense_Mutation_p.P338S|CLIP4_ENST00000404424.1_Missense_Mutation_p.P338S|CLIP4_ENST00000401617.2_Missense_Mutation_p.P231S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	338	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAAATGTGCCCCCAAGTATGG	0.338000													3	6					0	0	0.004672	0	0
CNGA4	1262	broad.mit.edu	37	11	6260614	6260614	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6260614G>A	ENST00000379936.2	+	2	178	c.62_splice	c.e2-1	p.R21_splice	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	21					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTTACAGGAAGTTGCTGC	0.483000													71	199					0	0	0.003610	0	0
SLC38A7	55238	broad.mit.edu	37	16	58710242	58710242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:58710242G>A	ENST00000570101.1	-	6	1602	c.719C>T	c.(718-720)tCc>tTc	p.S240F	SLC38A7_ENST00000564100.1_Missense_Mutation_p.S240F|SLC38A7_ENST00000564010.1_Missense_Mutation_p.S151F|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.S240F			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	240					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						AGCCATCCAGGAAGCCGGCCT	0.602000													47	36					0	0	0.003610	0	0
OPN1LW	5956	broad.mit.edu	37	X	153420166	153420166	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153420166C>T	ENST00000369951.4	+	4	756	c.696C>T	c.(694-696)ctC>ctT	p.L232L	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	232					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATCCCACTCGCTATCATCA	0.602000													81	238					0	0	0.003610	0	0
LOC645166	645166	broad.mit.edu	37	1	148932910	148932910	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:148932910C>T	ENST00000539543.1	+	0	166					NR_027355.1																						GCCAAGACTCCGTCCTGCAAG	0.612000													8	152					0	0	0.006214	0	0
MN1	4330	broad.mit.edu	37	22	28193474	28193474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:28193474C>T	ENST00000302326.4	-	1	4012	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1020							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCGGCTGATCCCCCAGGAGC	0.682000			T	ETV6	"""AML, meningioma"""								25	71					0	0	0.004656	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994676	144994676	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:144994676T>C	ENST00000369359.4	-	4	505	c.467A>G	c.(466-468)aAc>aGc	p.N156S	PDE4DIP_ENST00000369347.4_Missense_Mutation_p.N19S|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.N85S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.N19S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.N19S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.N156S|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.N156S|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.N19S|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.N19S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	19					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)		GAGGCTGAAGTTCTCCTTCTT	0.577000			T	PDGFRB	MPD								17	124					0	0	0.006122	0	0
ALG1	56052	broad.mit.edu	37	16	5121918	5121918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:5121918G>A	ENST00000262374.5	+	1	99	c.68G>A	c.(67-69)tGg>tAg	p.W23*	ALG1_ENST00000588623.1_Intron	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	23					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ctgGGAGGATGGAAGCGCTgg	0.711000													5	7					0	0	0.001168	0	0
AGBL5	60509	broad.mit.edu	37	2	27282264	27282264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27282264C>T	ENST00000360131.4	+	11	2240	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	AGBL5_ENST00000323064.8_Missense_Mutation_p.P694L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	694					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCTGGGCCCCGTCAGAGGT	0.582000													40	94					0	0	0.002852	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122504	46122504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:46122504G>A	ENST00000374366.3	-	8	1010	c.545C>T	c.(544-546)cCt>cTt	p.P182L	ZFAND4_ENST00000344646.5_Missense_Mutation_p.P256L|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	256							zinc ion binding										ACCACTAGAAGGTCGAGGAGC	0.468000													10	21					0	0	0.000978	0	0
LHX3	8022	broad.mit.edu	37	9	139089186	139089186	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139089186G>A	ENST00000371746.3	-	6	1312	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	LHX3_ENST00000371748.5_Silent_p.D393D	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	393					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACTGAGCGTGGTCTACCTCAT	0.682000													16	30					0	0	0.001216	0	0
NTM	50863	broad.mit.edu	37	11	132016241	132016241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:132016241G>A	ENST00000374786.1	+	2	712	c.233G>A	c.(232-234)gGg>gAg	p.G78E	NTM_ENST00000427481.2_Missense_Mutation_p.G69E|NTM_ENST00000425719.2_Missense_Mutation_p.G78E|NTM_ENST00000374784.1_Missense_Mutation_p.G78E|NTM_ENST00000374791.3_Missense_Mutation_p.G78E|NTM_ENST00000539799.1_Missense_Mutation_p.G78E	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	78	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CTCTATGCTGGGAATGACAAG	0.567000													16	8					0	0	0.004990	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594692	61594692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:61594692G>A	ENST00000370349.3	+	7	882	c.678G>A	c.(676-678)tgG>tgA	p.W226*	SLC17A9_ENST00000370351.4_Nonsense_Mutation_p.W232*|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	232					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGTCCCCTGGAGACGGCTCT	0.637000													11	46					0	0	0.001368	0	0
FMO4	2329	broad.mit.edu	37	1	171293343	171293343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:171293343G>A	ENST00000367749.3	+	5	718	c.388G>A	c.(388-390)Gag>Aag	p.E130K	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	130					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTTGTCACAGAGACAGAGGG	0.458000													37	43					0	0	0.005524	0	0
HDX	139324	broad.mit.edu	37	X	83724271	83724271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:83724271G>A	ENST00000297977.5	-	3	571	c.460C>T	c.(460-462)Cct>Tct	p.P154S	HDX_ENST00000373177.2_Missense_Mutation_p.P154S|HDX_ENST00000506585.2_Missense_Mutation_p.P96S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P154S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTGGACAGGAATGTGTAAC	0.358000													70	33					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113585887	113585887	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:113585887C>T	ENST00000297405.5	-	24	4130		c.e24-1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						CATCATAAATCTGCaaaatat	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	4					0	0	0.000248	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798344	185798344	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:185798344G>A	ENST00000302277.6	+	3	864	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	90						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAGGAACTGAAACAAAGGG	0.348000													5	12					0	0	0.001984	0	0
POM121	9883	broad.mit.edu	37	7	72396946	72396946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:72396946C>T	ENST00000434423.2	+	2	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F	POM121_ENST00000358357.3_5'UTR|POM121_ENST00000446813.1_5'UTR|POM121_ENST00000257622.4_5'UTR|POM121_ENST00000395270.1_5'UTR			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	264	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCTCGCAACTCCAGGATGGTG	0.537000													12	45					0	0	0.004007	0	0
OR5L1	219437	broad.mit.edu	37	11	55579581	55579581	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55579581C>T	ENST00000333973.2	+	1	728	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCATGATCATCCTCACCT	0.502000													44	29					0	0	0.002852	0	0
CYTH4	27128	broad.mit.edu	37	22	37688702	37688702	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:37688702G>C	ENST00000248901.6	+	2	247	c.60G>C	c.(58-60)caG>caC	p.Q20H	CYTH4_ENST00000405206.3_Missense_Mutation_p.Q20H|CYTH4_ENST00000402997.1_Missense_Mutation_p.Q20H|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	20					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AAGAGTTACAGAGGATCAAGT	0.602000													28	103					0	0	0.002836	0	0
CD33	945	broad.mit.edu	37	19	51728840	51728840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51728840C>T	ENST00000262262.4	+	2	425	c.404C>T	c.(403-405)tCt>tTt	p.S135F	CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.S135F	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	135	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCCCAGCTCTCTGTGCATGTG	0.547000													29	11					0	0	0.003271	0	0
BRD9	65980	broad.mit.edu	37	5	865567	865567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:865567G>A	ENST00000323510.4	-	12	1366	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	BRD9_ENST00000483173.1_Missense_Mutation_p.S499F|BRD9_ENST00000388890.4_Missense_Mutation_p.S436F|BRD9_ENST00000467963.1_Missense_Mutation_p.S552F			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	552							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GTTGGACAGGGAGCTGAGGTT	0.647000													52	94					0	0	0.003610	0	0
PTPRM	5797	broad.mit.edu	37	18	7888235	7888235	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:7888235C>A	ENST00000332175.8	+	3	1365	c.328C>A	c.(328-330)Cct>Act	p.P110T	PTPRM_ENST00000400053.4_Missense_Mutation_p.P48T|PTPRM_ENST00000580170.1_Missense_Mutation_p.P110T|PTPRM_ENST00000400060.4_Missense_Mutation_p.P110T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	110	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.P110S(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGTAATTCTCCTCCGGGGTT	0.488000													14	19					1.3612e-06	2.73139e-06	0.003163	1	0
KL	9365	broad.mit.edu	37	13	33635235	33635235	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:33635235C>T	ENST00000380099.3	+	4	2027	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	673	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGACTGTGCTTTCAAGAGC	0.577000													66	33					0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154156961	154156961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:154156961C>T	ENST00000360256.4	-	14	5304	c.5104G>A	c.(5104-5106)Gat>Aat	p.D1702N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1702					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGATTTTCATCCTCATCATAA	0.403000													7	10					0	0	0.001984	0	0
PARS2	25973	broad.mit.edu	37	1	55224058	55224058	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:55224058G>A	ENST00000371279.3	-	2	859	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	259					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CTGGGAGCTGGAACTCATGAG	0.557000													23	22					0	0	0.003954	0	0
MROH5	389690	broad.mit.edu	37	8	142488719	142488719	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142488719C>T	ENST00000430863.1	-	0	1322					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		AGAGGCCTACCCAAGAGCTGT	0.652000													12	35					0	0	0.001855	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912858	77912858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77912858C>T	ENST00000321110.1	-	2	1355	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	354							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGAGTGCTTTCATCCCAGTTC	0.478000													8	14					0	0	0.003080	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84888359	84888359	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84888359C>T	ENST00000262424.5	+	6	857	c.633C>T	c.(631-633)ccC>ccT	p.P211P	CRISPLD2_ENST00000564567.1_Silent_p.P211P|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.P211P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	211						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GAGAAGCCCCCTACAAGAATG	0.567000													45	107					0	0	0.003610	0	0
LPAR4	2846	broad.mit.edu	37	X	78010570	78010570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:78010570G>A	ENST00000435339.2	+	2	609	c.204G>A	c.(202-204)atG>atA	p.M68I	LPAR4_ENST00000373301.2_Missense_Mutation_p.M68I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	68						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTTTCCGCATGAAAATGAGAA	0.363000													29	61					0	0	0.006320	0	0
STARD4	134429	broad.mit.edu	37	5	110835772	110835772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:110835772C>T	ENST00000296632.3	-	6	564	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	144	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CGAACAAATTCTGGTCTCTTT	0.338000													10	26					0	0	0.001855	0	0
SGSM1	129049	broad.mit.edu	37	22	25294301	25294301	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25294301C>T	ENST00000400358.4	+	19	2442	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	SGSM1_ENST00000400359.4_Silent_p.F850F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	850	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGACGAGTTCATGTCCATCA	0.627000													49	56					0	0	0.003610	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255718	140255718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140255718G>A	ENST00000398631.2	+	1	661	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTAAACCAGAACTAACAGG	0.408000													41	83					0	0	0.007835	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147076	26147076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:26147076G>A	ENST00000331351.5	+	2	1270	c.878G>A	c.(877-879)aGg>aAg	p.R293K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	293					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.R293T(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCGTGACCAGGGCCATCTCT	0.527000													11	15					0	0	0.001368	0	0
CERKL	375298	broad.mit.edu	37	2	182402939	182402939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:182402939C>T	ENST00000410087.3	-	13	1671	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	CERKL_ENST00000374970.2_Missense_Mutation_p.G455E|CERKL_ENST00000374969.2_Missense_Mutation_p.G411E|CERKL_ENST00000409440.3_Missense_Mutation_p.G506E|CERKL_ENST00000339098.5_Missense_Mutation_p.G550E	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	550					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCCATGCTTCCTCCATAAAG	0.289000													8	6					0	0	0.000673	0	0
FNDC5	252995	broad.mit.edu	37	1	33333902	33333902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:33333902C>T	ENST00000373471.3	-	3	364	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	84	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTATGTACTCCGTATCCTCC	0.607000													44	3					0	0	0.002852	0	0
PRB4	5545	broad.mit.edu	37	12	11461466	11461466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:11461466G>A	ENST00000279575.1	-	3	484	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Nonsense_Mutation_p.Q151*	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	214	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region		p.Q151E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CCTTGGGACTGGTTACCTCCT	0.597000										HNSCC(22;0.051)			78	59					0	0	0.003610	0	0
AADACL3	126767	broad.mit.edu	37	1	12785502	12785502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:12785502C>T	ENST00000332530.3	+	3	608	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	AADACL3_ENST00000359318.5_Nonsense_Mutation_p.Q198*	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	198							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTTTTTTTCAAAACCTGGA	0.473000													33	4					0	0	0.003755	0	0
KMT2C	58508	broad.mit.edu	37	7	151879490	151879490	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151879490T>A	ENST00000355193.2	-	36	5673	c.5455A>T	c.(5455-5457)Atg>Ttg	p.M1819L	KMT2C_ENST00000262189.6_Missense_Mutation_p.M1819L					lysine (K)-specific methyltransferase 2C																		GCAGGAGACATATTTCCATTG	0.458000													41	117					0	0	0.002222	0	0
HERC2	8924	broad.mit.edu	37	15	28501248	28501248	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:28501248G>A	ENST00000261609.7	-	18	2841	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	911					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCAGGGCAGGAGAGCAGAGA	0.657000													16	66					0	0	0.004007	0	0
TCN2	6948	broad.mit.edu	37	22	31011750	31011750	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:31011750T>G	ENST00000215838.3	+	6	1410	c.916T>G	c.(916-918)Ttc>Gtc	p.F306V	TCN2_ENST00000407817.3_Missense_Mutation_p.F279V|TCN2_ENST00000405742.3_Missense_Mutation_p.F302V			P20062	TCO2_HUMAN	transcobalamin II	306					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCTGATCTTCCCAGACTG	0.537000													29	105					0	0	0.003271	0	0
FLG2	388698	broad.mit.edu	37	1	152326001	152326001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152326001C>A	ENST00000388718.5	-	3	4333	c.4261G>T	c.(4261-4263)Gga>Tga	p.G1421*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1421							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCCCTTCTTCCA	0.527000													30	46					7.61165e-28	1.54344e-27	0.003755	1	0
PTPN5	84867	broad.mit.edu	37	11	18765681	18765681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18765681C>T	ENST00000396170.1	-	4	1427	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PTPN5_ENST00000396168.1_Missense_Mutation_p.E31K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E55K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.E55K|PTPN5_ENST00000396167.2_Missense_Mutation_p.E55K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	55						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGCGGCATCTCTCTCTGTGAG	0.657000													89	228					0	0	0.003610	0	0
ADNP2	22850	broad.mit.edu	37	18	77896377	77896377	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:77896377G>A	ENST00000262198.4	+	4	3536	c.3081G>A	c.(3079-3081)gaG>gaA	p.E1027E		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1027					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCAGAACAGAGGGACCTATTG	0.428000													23	59					0	0	0.003954	0	0
ITGA7	3679	broad.mit.edu	37	12	56092631	56092631	+	Silent	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56092631G>T	ENST00000257880.7	-	7	1212	c.993C>A	c.(991-993)cgC>cgA	p.R331R	ITGA7_ENST00000555728.1_Silent_p.R331R|ITGA7_ENST00000553804.1_Silent_p.R291R|ITGA7_ENST00000452168.2_Silent_p.R194R|ITGA7_ENST00000394230.2_Silent_p.R291R|ITGA7_ENST00000394229.2_Silent_p.R287R|ITGA7_ENST00000347027.6_Silent_p.R287R|ITGA7_ENST00000257879.6_Silent_p.R287R			Q13683	ITA7_HUMAN	integrin, alpha 7	331					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R291R(1)|p.R287R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTGGTTGGCGCGGGGGGCTC	0.622000													10	18					6.72482e-11	1.35269e-10	0.003163	1	0
SCYL1	57410	broad.mit.edu	37	11	65306007	65306007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:65306007C>T	ENST00000525364.1	+	17	2416	c.2339C>T	c.(2338-2340)cCa>cTa	p.P780L	SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000533862.1_Missense_Mutation_p.P787L|SCYL1_ENST00000527630.1_Silent_p.P698P|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000279270.6_Missense_Mutation_p.P781L|SCYL1_ENST00000420247.2_Silent_p.P782P|SCYL1_ENST00000527009.1_Silent_p.P656P|SCYL1_ENST00000270176.5_Silent_p.P799P			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	0					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCAAGGGCCCCATGAAGCTGG	0.657000													9	10					0	0	0.001368	0	0
LRRN2	10446	broad.mit.edu	37	1	204587153	204587153	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204587153C>T	ENST00000367175.1	-	1	4180	c.1968G>A	c.(1966-1968)agG>agA	p.R656R	LRRN2_ENST00000367176.3_Silent_p.R656R|LRRN2_ENST00000367177.3_Silent_p.R656R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	656					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCACACCCTTCCTGGGTTGGC	0.672000													35	33					0	0	0.002836	0	0
SARNP	84324	broad.mit.edu	37	12	56211530	56211530	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56211530C>A	ENST00000336133.3	-	0	10				RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron	NM_033082.3	NP_149073.1			SAP domain containing ribonucleoprotein											breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						CGGCCTCCGCCTCCAGGAGCT	0.592000													8	20					0.00307968	0.00613492	0.003080	1	0
TMEM72	643236	broad.mit.edu	37	10	45430327	45430327	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:45430327G>A	ENST00000544540.1	+	4	703	c.219G>A	c.(217-219)aaG>aaA	p.K73K	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	191						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GTATCCTGAAGGGGACTAAGA	0.602000													37	49					0	0	0.006230	0	0
OR13A1	79290	broad.mit.edu	37	10	45799154	45799154	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:45799154G>A	ENST00000553795.1	-	4	1025	c.717C>T	c.(715-717)atC>atT	p.I239I	OR13A1_ENST00000374401.2_Silent_p.I239I|OR13A1_ENST00000536058.1_Silent_p.I239I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I239I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCTGGAGACGATGAAGCCAT	0.557000													79	5					0	0	0.003610	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067444	103067444	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:103067444C>T	ENST00000264260.2	+	11	1936	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	IL18RAP_ENST00000409369.1_Silent_p.S307S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	449	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGGATATAGCCTGTGTTTGC	0.438000													29	61					0	0	0.001512	0	0
PMCHL2	5370	broad.mit.edu	37	5	70672220	70672220	+	RNA	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:70672220T>C	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							GAAAAGCATTTAATTGCCAAT	0.378000													3	0					0	0	0.004672	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311104	150311104	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:150311104G>A	ENST00000520773.1	-	0	2217																											TGTATAATGAGGGATGATTTC	0.408000													9	12					0	0	0.004482	0	0
TET3	200424	broad.mit.edu	37	2	74326589	74326589	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:74326589C>T	ENST00000409262.3	+	8	3049	c.3049C>T	c.(3049-3051)Ctg>Ttg	p.L1017L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1017							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCGACGCCTGCCCGAGCC	0.627000													25	13					0	0	0.001786	0	0
NEU2	4759	broad.mit.edu	37	2	233898884	233898884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233898884C>T	ENST00000233840.3	+	2	260	c.260C>T	c.(259-261)cCa>cTa	p.P87L		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	87							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TCCATGAACCCATGCCCCTTG	0.602000													38	142					0	0	0.003214	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811056	106811056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:106811056C>T	ENST00000407775.2	+	7	1094	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P150S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P150S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P13S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	282					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAGCTGCTCCGGTGTCAGA	0.507000													45	38					0	0	0.002222	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034566	52034566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:52034566C>T	ENST00000346477.3	-	2	343	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R92Q|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R92Q|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R92Q|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R56Q|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R92Q	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	92	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GAGGTGGAATCGGCCCCGGGT	0.567000													54	44					0	0	0.003610	0	0
NCOA6	23054	broad.mit.edu	37	20	33331095	33331095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:33331095G>A	ENST00000374796.2	-	12	5535	c.2965C>T	c.(2965-2967)Caa>Taa	p.Q989*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q989*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	989	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCATGAGTTGAGGAGGCATC	0.532000													39	60					0	0	0.001951	0	0
SAPCD1	401251	broad.mit.edu	37	6	31732083	31732083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31732083C>T	ENST00000415669.2	+	4	451	c.392C>T	c.(391-393)aCc>aTc	p.T131I	MSH5_ENST00000534153.4_3'UTR|SAPCD1_ENST00000425424.1_Intron|MSH5-SAPCD1_ENST00000493662.2_3'UTR	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN	suppressor APC domain containing 1	117																	TCCTGCACCACCCAGGATTCA	0.547000													94	183					0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71508454	71508454	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71508454G>A	ENST00000396073.3	+	9	1592	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	437					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAATCCAAAGGAGAAGCCCC	0.443000													8	6					0	0	0.006214	0	0
DSG1	1828	broad.mit.edu	37	18	28934674	28934674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:28934674G>A	ENST00000257192.4	+	15	2727	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E198K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	839					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACTGTGACCGAGTCTTACAC	0.517000													43	92					0	0	0.003610	0	0
PTPN13	5783	broad.mit.edu	37	4	87671906	87671906	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:87671906C>T	ENST00000436978.1	+	18	3414	c.2934C>T	c.(2932-2934)ctC>ctT	p.L978L	PTPN13_ENST00000511467.1_Silent_p.L978L|PTPN13_ENST00000411767.2_Silent_p.L978L|PTPN13_ENST00000427191.2_Silent_p.L978L|PTPN13_ENST00000316707.6_Intron	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	978						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGCCTCTCTCTATCCACATC	0.433000													6	3					0	0	0.003080	0	0
LMO1	4004	broad.mit.edu	37	11	8248557	8248557	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8248557G>A	ENST00000335790.3	-	3	825	c.330C>T	c.(328-330)caC>caT	p.H110H	LMO1_ENST00000428101.2_Silent_p.H109H|LMO1_ENST00000534484.1_Silent_p.H99H	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	110	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AGCAGTCGAGGTGATACACGT	0.637000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							16	19					0	0	0.004990	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472495	47472495	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:47472495G>A	ENST00000266581.4	-	2	757	c.291C>T	c.(289-291)acC>acT	p.T97T	AMIGO2_ENST00000429635.1_Silent_p.T97T|AMIGO2_ENST00000550413.1_Silent_p.T97T|AMIGO2_ENST00000321382.3_Silent_p.T97T	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	97					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAAGAATTAGGGTGTTCAGCT	0.418000													43	97					0	0	0.003610	0	0
LOC440040	440040	broad.mit.edu	37	11	49830124	49830124	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:49830124C>T	ENST00000527477.1	+	0	1455																											GCCCCAGCCTCTGAATCTAGA	0.468000													6	21					0	0	0.000978	0	0
RIT2	6014	broad.mit.edu	37	18	40323652	40323652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:40323652C>T	ENST00000326695.5	-	5	631	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	154					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATTATATTCTTGGGCAAGA	0.358000													4	8					0	0	0.000248	0	0
DDX26B	203522	broad.mit.edu	37	X	134714075	134714075	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:134714075A>T	ENST00000370752.4	+	15	2705	c.2371A>T	c.(2371-2373)Aag>Tag	p.K791*	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	791										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTTCGAAAGTTTGGTCG	0.373000													27	18					0	0	0.001512	0	0
OPRK1	4986	broad.mit.edu	37	8	54142015	54142015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:54142015G>A	ENST00000265572.3	-	4	1282	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	OPRK1_ENST00000520287.1_Missense_Mutation_p.L329F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.L240F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	329					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAGGCGTAGAGAATGGGATTC	0.527000													5	22					0	0	0.001168	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999044	143999044	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:143999044G>A	ENST00000323110.2	-	1	215	c.213C>T	c.(211-213)acC>acT	p.T71T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	71					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCCTGGAAGGTCTGGTGCA	0.632000									Familial Hyperaldosteronism type I				51	45					0	0	0.003610	0	0
ALB	213	broad.mit.edu	37	4	74277825	74277825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74277825G>T	ENST00000295897.4	+	7	915	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	ALB_ENST00000401494.3_Nonsense_Mutation_p.E161*|ALB_ENST00000415165.2_Nonsense_Mutation_p.E84*|ALB_ENST00000509063.1_Nonsense_Mutation_p.E276*|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Nonsense_Mutation_p.E126*	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	276	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGATCTGCTTGAATGTGCTGA	0.453000													21	25					6.21321e-17	1.25503e-16	0.002780	1	0
DTX3	196403	broad.mit.edu	37	12	58001016	58001016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58001016C>T	ENST00000548198.1	+	3	1874	c.370C>T	c.(370-372)Cct>Tct	p.P124S	DTX3_ENST00000551632.1_Missense_Mutation_p.P127S|DTX3_ENST00000337737.3_Missense_Mutation_p.P124S|DTX3_ENST00000548804.1_Missense_Mutation_p.P124S			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	124	Pro-rich.				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)					AGGCCCACCCCCTCTCCGAGC	0.706000													12	8					0	0	0.001855	0	0
RAB3IP	117177	broad.mit.edu	37	12	70188987	70188987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70188987C>T	ENST00000550536.1	+	6	1256	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RAB3IP_ENST00000553099.1_Missense_Mutation_p.P45S|RAB3IP_ENST00000378815.6_Missense_Mutation_p.P251S|RAB3IP_ENST00000247833.7_Missense_Mutation_p.P251S|RAB3IP_ENST00000483530.2_Missense_Mutation_p.P251S|RAB3IP_ENST00000325555.9_Missense_Mutation_p.P45S|RAB3IP_ENST00000551641.1_Missense_Mutation_p.P45S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.P267S	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	267					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCAACATCACCTACGCAGGA	0.418000													10	29					0	0	0.000673	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279743	73279743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:73279743C>T	ENST00000320531.2	+	2	529	c.493C>T	c.(493-495)Ctc>Ttc	p.L165F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	165						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGGCAGGCAGCTCAGTAAGGT	0.627000													17	84					0	0	0.004007	0	0
ABCC1	4363	broad.mit.edu	37	16	16205301	16205301	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16205301C>A	ENST00000399408.2	+	23	3146	c.2971C>A	c.(2971-2973)Ctt>Att	p.L991I	ABCC1_ENST00000351154.5_Missense_Mutation_p.L922I|ABCC1_ENST00000349029.5_Missense_Mutation_p.L866I|ABCC1_ENST00000399410.3_Missense_Mutation_p.L981I|ABCC1_ENST00000345148.5_Missense_Mutation_p.L981I|ABCC1_ENST00000346370.5_Missense_Mutation_p.L925I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	981	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAGCATCTTCCTTTTCATGTG	0.522000													68	117					1.15098e-32	2.33552e-32	0.003610	1	0
SNTG1	54212	broad.mit.edu	37	8	51415351	51415351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:51415351G>A	ENST00000522124.1	+	9	1038	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	SNTG1_ENST00000276467.5_Missense_Mutation_p.R126Q|SNTG1_ENST00000517473.1_Missense_Mutation_p.R126Q|SNTG1_ENST00000518864.1_Missense_Mutation_p.R126Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGGTTCTTCGGAATGCTGGA	0.333000													15	17					0	0	0.003163	0	0
KTN1	3895	broad.mit.edu	37	14	56107904	56107904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:56107904C>T	ENST00000416613.1	+	16	2153	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	KTN1_ENST00000438792.2_Missense_Mutation_p.S694L|KTN1_ENST00000395311.1_Missense_Mutation_p.S694L|KTN1_ENST00000395309.3_Missense_Mutation_p.S694L|KTN1_ENST00000413890.2_Missense_Mutation_p.S694L|KTN1_ENST00000395308.1_Missense_Mutation_p.S694L|KTN1_ENST00000395314.3_Missense_Mutation_p.S694L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	694					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CATGAAATTTCAAACAAAATG	0.299000			T	RET	papillary thryoid								8	18					0	0	0.000673	0	0
ROBO4	54538	broad.mit.edu	37	11	124766102	124766102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124766102G>A	ENST00000306534.3	-	4	1156	c.671C>T	c.(670-672)tCc>tTc	p.S224F	ROBO4_ENST00000533054.1_Missense_Mutation_p.S79F|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	224	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACCCTGGATGGAAACCCGGGC	0.597000													15	39					0	0	0.003163	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376398	138376398	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138376398C>T	ENST00000356818.2	+	4	591	c.42C>T	c.(40-42)tcC>tcT	p.S14S	PPP1R26_ENST00000401470.3_Silent_p.S14S|PPP1R26_ENST00000605660.1_Silent_p.S14S|PPP1R26_ENST00000604351.1_Silent_p.S14S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S14S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	14						nucleolus	protein binding										CTCTCCAGTCCAAATGGGAGG	0.627000													63	39					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107704318	107704318	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107704318G>A	ENST00000388781.3	-	22	3032	c.2949C>T	c.(2947-2949)tcC>tcT	p.S983S	LAMB4_ENST00000205386.4_Silent_p.S983S|LAMB4_ENST00000388780.3_Silent_p.S983S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	983	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCGGCTGCAGGACTCTGGAT	0.507000													18	64					0	0	0.006122	0	0
OR10K2	391107	broad.mit.edu	37	1	158390349	158390349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158390349G>A	ENST00000314902.2	-	1	307	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAAGAGGAAGGAAAACATTTG	0.483000													4	9					0	0	0.000248	0	0
GPR152	390212	broad.mit.edu	37	11	67219664	67219664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67219664C>T	ENST00000312457.2	-	1	536	c.532G>A	c.(532-534)Gac>Aac	p.D178N		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ATGACCAGGTCGTACCACCAG	0.662000													53	29					0	0	0.003610	0	0
MGRN1	23295	broad.mit.edu	37	16	4731634	4731634	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4731634C>T	ENST00000399577.5	+	13	1308	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	MGRN1_ENST00000586183.1_Silent_p.I383I|MGRN1_ENST00000262370.7_Silent_p.I405I|MGRN1_ENST00000588994.1_Silent_p.I383I|MGRN1_ENST00000415496.1_Silent_p.I384I	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	405					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCCCGGCCATCCCCTCGGCCC	0.637000													25	37					0	0	0.007291	0	0
BSN	8927	broad.mit.edu	37	3	49662417	49662417	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49662417G>A	ENST00000296452.4	+	2	348	c.234G>A	c.(232-234)cgG>cgA	p.R78R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	78					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCACTTCCCGGAGACTGGACC	0.557000													14	39					0	0	0.004990	0	0
TBCCD1	55171	broad.mit.edu	37	3	186276300	186276300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186276300G>A	ENST00000424280.1	-	3	877	c.398C>T	c.(397-399)tCc>tTc	p.S133F	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S37F|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S133F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	133					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGTCCTTAGGGAGACCTTGTT	0.398000													27	69					0	0	0.007291	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518217	113518217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:113518217G>A	ENST00000284601.3	-	4	2998	c.2930C>T	c.(2929-2931)tCc>tTc	p.S977F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	977					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGAACTTCTGGAAACTTCTTC	0.378000													5	22					0	0	0.000602	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011288	34011288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:34011288G>A	ENST00000382499.2	-	31	3961	c.3962C>T	c.(3961-3963)aCc>aTc	p.T1321I	SYNJ1_ENST00000382491.3_Missense_Mutation_p.T1235I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.T1266I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.T1282I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.T1321I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1282	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTGTGGTGGGGTTTCCAAATT	0.522000													83	71					0	0	0.003610	0	0
DLD	1738	broad.mit.edu	37	7	107545812	107545812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107545812C>T	ENST00000205402.5	+	7	726	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	DLD_ENST00000437604.2_Intron|DLD_ENST00000537148.1_Missense_Mutation_p.H50Y|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000440410.1_Missense_Mutation_p.H126Y	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	149					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AAAGGTTGTTCATGTCAATGG	0.294000													9	63					0	0	0.004482	0	0
PNMT	5409	broad.mit.edu	37	17	37824853	37824853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37824853C>T	ENST00000269582.2	+	1	443	c.125C>T	c.(124-126)cCc>cTc	p.P42L	PNMT_ENST00000581428.1_Missense_Mutation_p.P42L|PNMT_ENST00000394246.1_Intron	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	42					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACTACGCGCCCCCTCGCGGG	0.726000													9	12					0	0	0.006214	0	0
WNT5A	7474	broad.mit.edu	37	3	55508461	55508461	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:55508461G>A	ENST00000474267.1	-	5	1109	c.588C>T	c.(586-588)ttC>ttT	p.F196F	WNT5A_ENST00000264634.4_Silent_p.F196F|WNT5A_ENST00000497027.1_Silent_p.F181F			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	196					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GGGCGTCCACGAACTCCTTGG	0.687000													5	17					0	0	0.000602	0	0
EML5	161436	broad.mit.edu	37	14	89206879	89206879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:89206879C>T	ENST00000554922.1	-	5	811	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	EML5_ENST00000352093.5_Missense_Mutation_p.R188Q|EML5_ENST00000380664.5_Missense_Mutation_p.R188Q	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	188						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAGACACCTCGTTTTGGGGT	0.368000													110	104					0	0	0.003610	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174024	74174024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74174024C>T	ENST00000300504.2	+	3	291	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	TBC1D21_ENST00000535547.2_Missense_Mutation_p.L34F|TBC1D21_ENST00000562056.1_Missense_Mutation_p.L70F	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	70	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CTGGAAATTCCTCACGGGCTA	0.602000													8	15					0	0	0.000673	0	0
DMBT1	1755	broad.mit.edu	37	10	124402885	124402885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:124402885C>T	ENST00000368909.3	+	53	7319	c.7213C>T	c.(7213-7215)Ccc>Tcc	p.P2405S	DMBT1_ENST00000344338.3_Missense_Mutation_p.P2395S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P1125S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1777S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2395S|DMBT1_ENST00000338354.3_Missense_Mutation_p.P2405S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1777S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2405				P -> A (in Ref. 5; CAC44122).	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCAGACCCCCCCACGCCG	0.637000													18	2					0	0	0.004990	0	0
RPS5	6193	broad.mit.edu	37	19	58899606	58899606	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58899606C>T	ENST00000596046.1	+	1	951	c.102C>T	c.(100-102)tcC>tcT	p.S34S	RPS5_ENST00000196551.3_Silent_p.S34S|RPS5_ENST00000601521.1_Silent_p.S34S|RPS5_ENST00000598098.1_Silent_p.S34S|RPS5_ENST00000598495.1_Silent_p.S34S			P46782	RS5_HUMAN	ribosomal protein S5	34					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		ATGACATTTCCCTGCAGGTGA	0.542000													4	19					0	0	0.000248	0	0
OR5L1	219437	broad.mit.edu	37	11	55579281	55579281	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55579281C>T	ENST00000333973.2	+	1	428	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGAGGTCTTCCTGCTGGCCG	0.483000													76	28					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11671833	11671833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11671833C>T	ENST00000262442.3	+	37	7302	c.7234C>T	c.(7234-7236)Cct>Tct	p.P2412S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2412S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2412					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAAGTTTCCTTCCCAAGG	0.498000													40	69					0	0	0.001951	0	0
THOC2	57187	broad.mit.edu	37	X	122760433	122760433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:122760433C>T	ENST00000245838.8	-	24	2869	c.2838G>A	c.(2836-2838)atG>atA	p.M946I	THOC2_ENST00000491737.1_Missense_Mutation_p.M831I|THOC2_ENST00000355725.4_Missense_Mutation_p.M946I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	946					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACATGTTCCATCTGTTTCT	0.388000													4	16					0	0	0.000602	0	0
ABCC3	8714	broad.mit.edu	37	17	48755478	48755478	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48755478C>T	ENST00000285238.8	+	25	3683	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1201	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGTGGAGTTCGTGGGGAACT	0.602000													46	39					0	0	0.003610	0	0
C12orf43	64897	broad.mit.edu	37	12	121454215	121454215	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:121454215C>T	ENST00000288757.3	-	1	85	c.63G>A	c.(61-63)gaG>gaA	p.E21E	C12orf43_ENST00000536407.2_Silent_p.E21E|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000539736.1_Silent_p.E21E|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000445832.3_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	21										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCCAGCTCCTCCGCATCGC	0.622000													140	332					0	0	0.003610	0	0
P2RX3	5024	broad.mit.edu	37	11	57137447	57137447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57137447G>A	ENST00000263314.2	+	12	1205	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	391					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						CACCGATTCGGGGGCCTTCTC	0.617000													4	30					0	0	0.000248	0	0
NCLN	56926	broad.mit.edu	37	19	3198862	3198862	+	Silent	SNP	C	C	T	rs150799648		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3198862C>T	ENST00000246117.4	+	5	1094	c.663C>T	c.(661-663)atC>atT	p.I221I	NCLN_ENST00000590671.1_Silent_p.I147I	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	221					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCGTCATCGTGGCCCACT	0.657000													50	124					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38770273	38770273	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38770273G>A	ENST00000449082.2	-	15	2399	c.2400C>T	c.(2398-2400)gtC>gtT	p.V800V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	800					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAGCAAAGACAAAGACAA	0.532000													16	52					0	0	0.001882	0	0
RGS9	8787	broad.mit.edu	37	17	63206679	63206679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:63206679G>A	ENST00000449996.3	+	17	1426	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	RGS9_ENST00000262406.9_Missense_Mutation_p.E455K|RGS9_ENST00000443584.3_Missense_Mutation_p.E452K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	455					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGAAGAGGAAGCCAAGGC	0.572000													11	31					0	0	0.000673	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412654	38412654	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:38412654C>T	ENST00000322350.5	+	11	1744	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.I232I|EGFLAM_ENST00000354891.3_Silent_p.I466I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	466	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGACCAAAATCAAACTAGGGG	0.498000													14	5					0	0	0.003163	0	0
ZNF700	90592	broad.mit.edu	37	19	12059149	12059149	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:12059149T>G	ENST00000482090.1	+	3	674	c.256T>G	c.(256-258)Ttt>Gtt	p.F86V	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.F104V			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGGAGAAACTTTTACCCAGGT	0.393000													24	111					0	0	0.002299	0	0
RIC3	79608	broad.mit.edu	37	11	8159883	8159883	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8159883C>T	ENST00000343202.4	-	3	428	c.363G>A	c.(361-363)ggG>ggA	p.G121G	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Silent_p.G121G|RIC3_ENST00000539720.1_Silent_p.G72G|RIC3_ENST00000425599.2_Silent_p.G121G	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	121						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTTGTTTTCCCCTTTGAGA	0.438000													68	60					0	0	0.003610	0	0
OR1D2	4991	broad.mit.edu	37	17	2996030	2996030	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2996030G>A	ENST00000331459.1	-	1	260	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	87					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTTTGTTATGGGACTGGAGGT	0.542000													24	45					0	0	0.003330	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212530019	212530019	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:212530019G>A	ENST00000261461.2	+	9	1552		c.e9+1		PPP2R5A_ENST00000537030.3_Splice_Site	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha						negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCAGAAAGAGGTGGGTTTTGT	0.388000													11	30					0	0	0.001368	0	0
ADRA2A	150	broad.mit.edu	37	10	112838505	112838505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:112838505C>T	ENST00000280155.2	+	1	1716	c.751C>T	c.(751-753)Ccg>Tcg	p.P251S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	236			N -> K (rare polymorphism; frequency in Caucasians 0.004 and in African-Americans 0.05; 40% increase in agonist-promoted Gi coupling; dbSNP:rs1800035).		actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CCGCCGGGGTCCGGACGCCGT	0.751000													9	1					0	0	0.006214	0	0
LARP1B	55132	broad.mit.edu	37	4	129120748	129120748	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:129120748C>T	ENST00000326639.6	+	16	2369	c.2158C>T	c.(2158-2160)Cta>Tta	p.L720L	LARP1B_ENST00000354456.3_Silent_p.L139L|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Silent_p.L661L|LARP1B_ENST00000441387.1_Silent_p.L720L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	720							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCGAAGATGCCTAAGTGGTAA	0.308000													6	5					0	0	0.003080	0	0
OR10J1	26476	broad.mit.edu	37	1	159409869	159409869	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159409869G>A	ENST00000423932.3	+	1	358	c.321G>A	c.(319-321)ggG>ggA	p.G107G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	107					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATTGGCAGGGTGTGCCACAC	0.493000													12	30					0	0	0.001368	0	0
DTX1	1840	broad.mit.edu	37	12	113533184	113533184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:113533184C>T	ENST00000257600.3	+	8	2106	c.1603C>T	c.(1603-1605)Cac>Tac	p.H535Y	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	535					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTCCCTCGCCACTGCTATCT	0.607000													18	58					0	0	0.001523	0	0
KCNB2	9312	broad.mit.edu	37	8	73848639	73848639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73848639C>T	ENST00000523207.1	+	3	1637	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	350					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATGATATTTTCCAGCCTGGTA	0.473000													47	57					0	0	0.003610	0	0
RARA	5914	broad.mit.edu	37	17	38508718	38508718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38508718G>A	ENST00000254066.5	+	6	1221	c.766G>A	c.(766-768)Gac>Aac	p.D256N	RARA_ENST00000394089.2_Missense_Mutation_p.D256N|RARA_ENST00000425707.3_Missense_Mutation_p.D159N|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Missense_Mutation_p.D272N|RARA_ENST00000394081.3_Missense_Mutation_p.D251N	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	256	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.D256Y(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCATCGCCGACCAGATCAC	0.602000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								19	48					0	0	0.001216	0	0
PREX2	80243	broad.mit.edu	37	8	69020515	69020515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:69020515G>A	ENST00000288368.4	+	24	3164	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	963					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTTCAGTTGGATAGCAGGAA	0.393000													5	18					0	0	0.000602	0	0
SCN11A	11280	broad.mit.edu	37	3	38936351	38936351	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38936351C>T	ENST00000450244.1	-	15	2706	c.2508G>A	c.(2506-2508)ctG>ctA	p.L836L	SCN11A_ENST00000456224.3_Silent_p.L836L|SCN11A_ENST00000444237.2_Silent_p.L836L|SCN11A_ENST00000302328.3_Silent_p.L836L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	836					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAATCGATCCAGTGCTAACT	0.443000													20	13					0	0	0.007413	0	0
C3	718	broad.mit.edu	37	19	6697542	6697542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6697542G>A	ENST00000245907.6	-	21	2701	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	870					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCAGAAGGCTGGATTGTGGAG	0.597000													26	44					0	0	0.006320	0	0
PRRG3	79057	broad.mit.edu	37	X	150869197	150869197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:150869197C>T	ENST00000370353.3	+	4	778	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	PRRG3_ENST00000538575.1_Missense_Mutation_p.P130S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	130						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCACACCCTCCCCCGGGTCAT	0.652000													29	71					0	0	0.001786	0	0
ZNF75D	7626	broad.mit.edu	37	X	134424998	134424998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:134424998G>A	ENST00000370766.3	-	6	3469	c.760C>T	c.(760-762)Cct>Tct	p.P254S	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P159S	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	254	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCTCAAGAGGATTCAATAAT	0.373000													41	99					0	0	0.002222	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326904	89326904	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:89326904C>T	ENST00000483158.1	-	0	155																											GTGGCTCTTTCCCCTGGAGAC	0.498000													34	15					0	0	0.003610	0	0
ZNF595	152687	broad.mit.edu	37	4	60037	60037	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:60037A>T	ENST00000509152.2	+	3	402	c.217A>T	c.(217-219)Aaa>Taa	p.K73*	ZNF595_ENST00000526473.2_Nonsense_Mutation_p.K73*|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GACAGCAGCCAAACCCCCAGG	0.483000													7	81					0	0	0.001984	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778234	56778234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:56778234C>T	ENST00000423391.1	-	1	402	c.301G>A	c.(301-303)Gag>Aag	p.E101K	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	101						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ATGGGATGCTCATCTGGTGCC	0.512000													7	6					0	0	0.001984	0	0
OCRL	4952	broad.mit.edu	37	X	128691376	128691376	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:128691376T>C	ENST00000371113.4	+	5	478	c.313T>C	c.(313-315)Ttg>Ctg	p.L105L	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Silent_p.L105L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	105					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGAACACTGTTTGAAGTTCCT	0.443000													20	42					0	0	0.001882	0	0
PRDM14	63978	broad.mit.edu	37	8	70982036	70982036	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:70982036C>T	ENST00000276594.2	-	2	261	c.60G>A	c.(58-60)gaG>gaA	p.E20E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCGGGCTGCTCTCCGGCGGGT	0.647000													8	33					0	0	0.000978	0	0
KDM5A	5927	broad.mit.edu	37	12	394648	394648	+	Missense_Mutation	SNP	T	T	C	rs150903623	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:394648T>C	ENST00000399788.2	-	28	5409	c.5047A>G	c.(5047-5049)Atg>Gtg	p.M1683V	KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1683	Interaction with LMO2.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGATCCTCCATTGGTAGTTTG	0.453000			T	NUP98	AML								8	5					0	0	0.004482	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911767	38911767	+	Silent	SNP	C	C	G	rs114025017	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38911767C>G	ENST00000454404.2	-	3	495	c.282G>C	c.(280-282)ccG>ccC	p.P94P	RASGRP4_ENST00000586305.1_Silent_p.P94P|RASGRP4_ENST00000293062.9_Silent_p.P94P|RASGRP4_ENST00000587753.1_Silent_p.P94P|RASGRP4_ENST00000433821.2_Silent_p.P94P|RASGRP4_ENST00000426920.2_Silent_p.P94P|RASGRP4_ENST00000587738.1_Silent_p.P94P	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	94	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	p.P94P(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTCGGCGGACGGCAGCACCC	0.632000													62	54					0	0	0.003610	0	0
DCX	1641	broad.mit.edu	37	X	110644320	110644320	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:110644320C>T	ENST00000338081.3	-	3	1017	c.846G>A	c.(844-846)aaG>aaA	p.K282K	DCX_ENST00000488120.1_Silent_p.K201K|DCX_ENST00000356915.2_Silent_p.K201K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Silent_p.K201K|DCX_ENST00000371993.2_Silent_p.K201K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	282	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGGCTGTCTTCTTGTTCAGAA	0.522000													8	2					0	0	0.003080	0	0
LRRC10	376132	broad.mit.edu	37	12	70004427	70004427	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70004427G>A	ENST00000361484.3	-	1	515	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	64						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGGCTATTGAGGTGGTTGT	0.577000													18	44					0	0	0.004990	0	0
DNAH9	1770	broad.mit.edu	37	17	11648297	11648297	+	Missense_Mutation	SNP	C	C	T	rs149674795		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11648297C>T	ENST00000262442.3	+	31	6363	c.6295C>T	c.(6295-6297)Ccc>Tcc	p.P2099S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2099S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2099					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2099S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTCTTTCCCGCCCTGGA	0.557000													7	17					0	0	0.001984	0	0
FAM91A1	157769	broad.mit.edu	37	8	124811843	124811843	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:124811843C>T	ENST00000334705.7	+	17	1890	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	FAM91A1_ENST00000521166.1_Silent_p.S548S	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	548										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GACCACCATCCCTTTTATTGT	0.408000													25	29					0	0	0.006320	0	0
CECR2	27443	broad.mit.edu	37	22	17983973	17983973	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:17983973C>T	ENST00000262608.8	+	6	672	c.672C>T	c.(670-672)tcC>tcT	p.S224S	CECR2_ENST00000342247.5_Silent_p.S223S|CECR2_ENST00000400585.2_Silent_p.S102S|CECR2_ENST00000400573.4_Silent_p.S243S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	265					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAGGACCTCCCTTCGAGAAC	0.577000													30	76					0	0	0.006320	0	0
NR5A2	2494	broad.mit.edu	37	1	200090049	200090049	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200090049C>T	ENST00000367362.3	+	7	1590	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	NR5A2_ENST00000544748.1_Silent_p.F376F|NR5A2_ENST00000236914.3_Silent_p.F402F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	448					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACGAGAGTTCGTATGTCTGA	0.413000													13	46					0	0	0.002450	0	0
CD300E	342510	broad.mit.edu	37	17	72613448	72613448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72613448C>T	ENST00000392619.1	-	2	313	c.278G>A	c.(277-279)gGa>gAa	p.G93E	CD300E_ENST00000426295.2_Missense_Mutation_p.G107E|CD300E_ENST00000328630.3_Missense_Mutation_p.G66E	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	66	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTCTCTTCTCCCTTGGTCTC	0.522000													28	21					0	0	0.002836	0	0
SMCO3	440087	broad.mit.edu	37	12	14959305	14959305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:14959305C>T	ENST00000316048.2	-	2	382	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		GTTTCCTTTTCCTTAATATCC	0.408000													66	127					0	0	0.003610	0	0
C4orf40	401137	broad.mit.edu	37	4	71024217	71024217	+	Missense_Mutation	SNP	G	G	A	rs149016682	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71024217G>A	ENST00000344526.5	+	3	437	c.248G>A	c.(247-249)gGa>gAa	p.G83E	C4orf40_ENST00000502294.1_Missense_Mutation_p.G83E|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	83						extracellular region		p.G83V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGATTCCCCTAT	0.488000													55	72					0	0	0.003610	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198272	81198272	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:81198272C>T	ENST00000533478.1	-	0	1377				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCTCCTGGCCGCCCTCCAGA	0.567000													37	38					0	0	0.007835	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377186	104377186	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:104377186G>A	ENST00000535008.1	+	4	634	c.510G>A	c.(508-510)cgG>cgA	p.R170R	LHFPL3_ENST00000543266.1_Silent_p.R170R|LHFPL3_ENST00000424859.1_Silent_p.R156R|LHFPL3_ENST00000401970.2_Silent_p.R156R			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	156						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AAGTAAAACGGATGTGTGGAG	0.458000													6	20					0	0	0.001984	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389333	140389333	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140389333C>T	ENST00000532602.1	+	4	3697	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F	PCDHAC2_ENST00000289269.5_Silent_p.F945F|PCDHA10_ENST00000506939.2_Silent_p.F623F|PCDHA11_ENST00000398640.2_Silent_p.F887F|PCDHA1_ENST00000394633.3_Silent_p.F624F|PCDHA6_ENST00000527624.1_Silent_p.F624F|PCDHA10_ENST00000307360.5_Silent_p.F886F|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Silent_p.F886F|PCDHA1_ENST00000504120.2_Silent_p.F888F|PCDHAC1_ENST00000253807.2_Silent_p.F901F|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Silent_p.F875F|PCDHA3_ENST00000522353.2_Silent_p.F888F|PCDHA12_ENST00000398631.2_Silent_p.F879F|PCDHA6_ENST00000529310.1_Silent_p.F888F|PCDHA4_ENST00000530339.1_Silent_p.F885F|PCDHA5_ENST00000529859.1_Silent_p.F874F|PCDHA13_ENST00000289272.2_Silent_p.F888F|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Silent_p.F888F	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAAATTCATTATCCCAG	0.517000													20	45					0	0	0.001882	0	0
MITF	4286	broad.mit.edu	37	3	70014286	70014286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:70014286C>T	ENST00000352241.4	+	10	1613	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	MITF_ENST00000531774.1_Missense_Mutation_p.L321F|MITF_ENST00000394351.3_Missense_Mutation_p.L383F|MITF_ENST00000448226.2_Missense_Mutation_p.L490F|MITF_ENST00000394355.2_Missense_Mutation_p.L459F|MITF_ENST00000328528.6_Missense_Mutation_p.L483F|MITF_ENST00000314557.6_Missense_Mutation_p.L377F|MITF_ENST00000314589.5_Missense_Mutation_p.L468F|MITF_ENST00000472437.1_Missense_Mutation_p.L432F	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	490					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGACGACACCCTTTCTCCCGT	0.537000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						10	4					0	0	0.000978	0	0
F8	2157	broad.mit.edu	37	X	154158767	154158767	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:154158767T>C	ENST00000360256.4	-	14	3498	c.3298A>G	c.(3298-3300)Aaa>Gaa	p.K1100E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1100	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGCCCTCTTTTTTCTGTTGG	0.388000													16	14					0	0	0.003163	0	0
ITGA4	3676	broad.mit.edu	37	2	182395250	182395250	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:182395250G>A	ENST00000397033.2	+	24	2968		c.e24-1			NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTCTTCATAGACTACTACTG	0.378000													3	10					0	0	0.004672	0	0
CACNB1	782	broad.mit.edu	37	17	37343112	37343112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37343112G>A	ENST00000394303.3	-	5	692	c.485C>T	c.(484-486)cCc>cTc	p.P162L	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.P162L|CACNB1_ENST00000394310.3_Missense_Mutation_p.P162L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	162					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CAGTTTGACGGGGCTGGGAAT	0.597000													24	53					0	0	0.003330	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544390	89544390	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:89544390G>A	ENST00000468494.1	-	0	263																											CAGAGTCCCGGTTAGAAACCT	0.498000													18	55					0	0	0.007413	0	0
TENM1	10178	broad.mit.edu	37	X	123838892	123838892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:123838892G>A	ENST00000422452.2	-	5	1049	c.986C>T	c.(985-987)aCt>aTt	p.T329I	TENM1_ENST00000371130.3_Missense_Mutation_p.T329I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CAAGGCCAAAGTCACTGTGAT	0.463000													24	21					0	0	0.002780	0	0
MAPT	4137	broad.mit.edu	37	17	44049246	44049246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:44049246C>T	ENST00000344290.5	+	3	477	c.155C>T	c.(154-156)aCt>aTt	p.T52I	MAPT_ENST00000351559.5_Missense_Mutation_p.T52I|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000262410.5_Missense_Mutation_p.T52I|MAPT_ENST00000340799.5_Missense_Mutation_p.T52I|MAPT_ENST00000535772.1_Missense_Mutation_p.T52I|MAPT_ENST00000431008.3_Missense_Mutation_p.T52I|MAPT_ENST00000420682.2_Missense_Mutation_p.T52I|MAPT_ENST00000574436.1_Missense_Mutation_p.T52I|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.T52I|MAPT_ENST00000415613.2_Missense_Mutation_p.T52I|MAPT_ENST00000570299.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	52					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CAGACCCCCACTGAGGACGGA	0.617000													11	32					0	0	0.002450	0	0
NEK1	4750	broad.mit.edu	37	4	170506614	170506614	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:170506614G>A	ENST00000439128.2	-	9	1333	c.693C>T	c.(691-693)ctC>ctT	p.L231L	NEK1_ENST00000511633.1_Silent_p.L231L|NEK1_ENST00000510533.1_Silent_p.L231L|NEK1_ENST00000507142.1_Silent_p.L231L|NEK1_ENST00000512193.1_Silent_p.L231L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	231	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CCAAACTGCGGAGATCATAGG	0.373000													15	22					0	0	0.003163	0	0
LRP1	4035	broad.mit.edu	37	12	57601896	57601896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57601896C>T	ENST00000243077.3	+	77	12401	c.11935C>T	c.(11935-11937)Cga>Tga	p.R3979*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3979					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGACTCGGGCCGAGATGTGAT	0.597000													38	15					0	0	0.002222	0	0
SH3TC1	54436	broad.mit.edu	37	4	8207318	8207318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:8207318C>T	ENST00000382521.3	+	3	297	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SH3TC1_ENST00000539824.1_Intron|SH3TC1_ENST00000245105.3_Intron			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	314							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCGTGTTTTTCCAGGGACGCG	0.557000													12	28					0	0	0.001368	0	0
SMURF2	64750	broad.mit.edu	37	17	62579628	62579628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:62579628G>A	ENST00000262435.9	-	7	707	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	174	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTAGATACTGGATTCTTCCA	0.418000													11	26					0	0	0.001368	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313380	99313380	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99313380C>T	ENST00000336374.2	-	7	673		c.e7+1			NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTCCACATACTTATTGAGAG	0.358000													5	13					0	0	0.001168	0	0
NACA	4666	broad.mit.edu	37	12	57110644	57110644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57110644G>A	ENST00000454682.1	-	3	4951	c.4670C>T	c.(4669-4671)tCc>tTc	p.S1557F	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_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						CTTTTTAGGGGAGGGAACAGT	0.567000			T	BCL6	NHL								17	25					0	0	0.004990	0	0
ATRX	546	broad.mit.edu	37	X	76845343	76845343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:76845343C>T	ENST00000373344.5	-	27	6392	c.6178G>A	c.(6178-6180)Gag>Aag	p.E2060K	ATRX_ENST00000395603.3_Missense_Mutation_p.E2022K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2060	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTGTCTTCTCCCTACTAGCT	0.313000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	12					0	0	0.000673	0	0
TRPV6	55503	broad.mit.edu	37	7	142572683	142572683	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142572683G>A	ENST00000359396.3	-	10	1505	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	420					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCCCCCAAGGATGGTCTGTC	0.542000													37	125					0	0	0.002522	0	0
ATP2B3	492	broad.mit.edu	37	X	152830489	152830489	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:152830489C>T	ENST00000370186.1	+	19	3554	c.3228C>T	c.(3226-3228)atC>atT	p.I1076I	ATP2B3_ENST00000349466.2_Silent_p.I1090I|ATP2B3_ENST00000359149.3_Silent_p.I1090I|ATP2B3_ENST00000393842.1_Silent_p.I1076I|ATP2B3_ENST00000370181.2_Silent_p.I1076I|ATP2B3_ENST00000263519.4_Silent_p.I1090I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1090					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAGATCGACCATGCCG	0.677000													10	5					0	0	0.000978	0	0
TST	7263	broad.mit.edu	37	22	37414702	37414702	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:37414702C>T	ENST00000403892.3	-	1	806	c.72G>A	c.(70-72)aaG>aaA	p.K24K	TST_ENST00000249042.3_Silent_p.K24K	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	24					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGGCCCCAGCTTGCCAGTCC	0.672000													6	14					0	0	0.001984	0	0
LIM2	3982	broad.mit.edu	37	19	51890415	51890415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51890415C>T	ENST00000221973.3	-	2	325	c.283G>A	c.(283-285)Gga>Aga	p.G95R	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		gctccctttccctctttgagc	0.607000													16	25					0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82545020	82545020	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82545020G>A	ENST00000423517.2	-	7	12619	c.12282C>T	c.(12280-12282)ttC>ttT	p.F4094F	PCLO_ENST00000437081.1_Silent_p.F814F|PCLO_ENST00000333891.8_Silent_p.F4094F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4025					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						AAGGTGCTAGGAAATCTGTCA	0.453000													3	3					0	0	0.004672	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697677	17697677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:17697677G>A	ENST00000399080.2	-	1	2029	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	669										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATACTGAAGGAATTAATGAG	0.274000													19	42					0	0	0.007413	0	0
COL3A1	1281	broad.mit.edu	37	2	189849500	189849500	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189849500T>A	ENST00000304636.3	+	2	264	c.94T>A	c.(94-96)Tgt>Agt	p.C32S	COL3A1_ENST00000317840.5_Missense_Mutation_p.C32S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	32	VWFC.				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)	TGAAGGAGGATGTTCCCATCT	0.423000													19	39					0	0	0.001216	0	0
C4orf50	389197	broad.mit.edu	37	4	5975535	5975535	+	Missense_Mutation	SNP	C	C	T	rs142005920		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:5975535C>T	ENST00000531445.1	-	4	1727	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	C4orf50_ENST00000324058.5_Missense_Mutation_p.E87K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	87										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGGTTCCTCTCCCGGCACTTC	0.637000													12	25					0	0	0.001855	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674495	71674495	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71674495G>A	ENST00000299952.4	+	3	841	c.798G>A	c.(796-798)ctG>ctA	p.L266L	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	269	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTCGCCCCTGATATACGGTG	0.577000													13	18					0	0	0.001855	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81051954	81051954	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:81051954C>T	ENST00000334512.5	+	11	1370	c.798C>T	c.(796-798)atC>atT	p.I266I	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	266					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCATGGGCATCCCTCCGCACA	0.662000													85	10					0	0	0.003610	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067597	116067597	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:116067597G>A	ENST00000369271.3	-	10	1339	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	AFAP1L2_ENST00000304129.4_Silent_p.L347L|AFAP1L2_ENST00000545353.1_Silent_p.L400L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	347					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ACAGGCTCCAGTGAGGTGGAT	0.512000													67	5					0	0	0.003610	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141751	64141751	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:64141751C>T	ENST00000545618.1	-	3	719	c.156G>A	c.(154-156)caG>caA	p.Q52Q	ZC4H2_ENST00000374839.3_Silent_p.Q57Q|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.Q34Q|ZC4H2_ENST00000447788.2_Silent_p.Q57Q			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	57							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCATCTTCTCCTGTAGCAGAA	0.512000													5	10					0	0	0.001168	0	0
KCNK15	60598	broad.mit.edu	37	20	43379008	43379008	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:43379008G>A	ENST00000372861.3	+	2	653	c.522G>A	c.(520-522)ggG>ggA	p.G174G		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	174						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGGCCCTCGGGGCCGTCGCCT	0.677000													20	26					0	0	0.007413	0	0
OR4N5	390437	broad.mit.edu	37	14	20612223	20612223	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20612223G>T	ENST00000333629.1	+	1	329	c.329G>T	c.(328-330)gGa>gTa	p.G110V		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTTGGAGCGGGAGAGATGTTC	0.493000													10	11					1.58986e-06	3.18801e-06	0.000673	1	0
ASH1L	55870	broad.mit.edu	37	1	155448032	155448032	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155448032G>A	ENST00000368346.3	-	3	5268	c.4629C>T	c.(4627-4629)ctC>ctT	p.L1543L	ASH1L_ENST00000392403.3_Silent_p.L1543L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1543					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)			TTGAAGGAGAGAGATGAGGGC	0.458000													15	52					0	0	0.006122	0	0
YBEY	54059	broad.mit.edu	37	21	47716086	47716086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47716086C>T	ENST00000329319.3	+	4	748	c.350C>T	c.(349-351)aCc>aTc	p.T117I	YBEY_ENST00000397691.1_Missense_Mutation_p.T117I|YBEY_ENST00000397694.1_Missense_Mutation_p.T72I|YBEY_ENST00000339195.6_Missense_Mutation_p.T74I|YBEY_ENST00000397692.1_Missense_Mutation_p.T29I|YBEY_ENST00000397701.4_Missense_Mutation_p.T117I	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	117							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GTGACGGCCACCCACGGACTC	0.617000													51	86					0	0	0.003610	0	0
AMOT	154796	broad.mit.edu	37	X	112021851	112021851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:112021851G>A	ENST00000371959.3	-	11	3198	c.3199C>T	c.(3199-3201)Ccc>Tcc	p.P1067S	AMOT_ENST00000304758.1_Missense_Mutation_p.P658S|AMOT_ENST00000524145.1_Missense_Mutation_p.P1067S|AMOT_ENST00000371962.1_Missense_Mutation_p.P835S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1067					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATCTGAATGGGAGTTTTTCTT	0.403000													135	327					0	0	0.003610	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390360	208390360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:208390360G>A	ENST00000367033.3	-	2	1665	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	303	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCCACCCCGGCCCGGGTGCA	0.612000													13	88					0	0	0.003163	0	0
CFAP221	200373	broad.mit.edu	37	2	120362261	120362261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120362261G>A	ENST00000413369.3	+	9	892	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	PCDP1_ENST00000602047.1_5'UTR|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978.1	Q4G0U5	PCDP1_HUMAN		269						cilium	calmodulin binding					Colorectal(110;0.196)					AGAAGAGTTTGAAAGGTTGAA	0.358000													7	14					0	0	0.001984	0	0
SAA2	6289	broad.mit.edu	37	11	18267004	18267004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18267004C>T	ENST00000526900.1	-	4	472	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.D97N|SAA2_ENST00000529528.1_Missense_Mutation_p.D97N|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCAGCCTGATCGGCCAGCGAG	0.557000													8	21					0	0	0.004482	0	0
MRPL49	740	broad.mit.edu	37	11	64893060	64893060	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64893060C>T	ENST00000279242.2	+	3	349	c.330C>T	c.(328-330)atC>atT	p.I110I	MRPL49_ENST00000526171.1_Silent_p.I110I|MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000531705.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	110					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						TGACTGTGATCCGGAAAGTGG	0.572000													46	30					0	0	0.002852	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072177	63072177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:63072177G>A	ENST00000332793.6	+	9	1416	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Silent_p.*270*|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	472						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCAGGAATAGATTTAACGGC	0.373000													11	5					0	0	0.001368	0	0
SFTPB	6439	broad.mit.edu	37	2	85894234	85894234	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:85894234A>G	ENST00000342375.3	-	4	397	c.262T>C	c.(262-264)Ttc>Ctc	p.F88L	SFTPB_ENST00000409383.1_Missense_Mutation_p.F100L|SFTPB_ENST00000393822.3_Missense_Mutation_p.F100L|SFTPB_ENST00000519937.2_Missense_Mutation_p.F88L	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	88	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ATTACCTGGAAAATGGCCTCC	0.572000													16	43					0	0	0.004990	0	0
NAPSA	9476	broad.mit.edu	37	19	50868798	50868798	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50868798G>A	ENST00000253719.2	-	1	289	c.81C>T	c.(79-81)atC>atT	p.I27I	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	27					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CACCATACCGGATCAGTGTGG	0.587000													28	26					0	0	0.007291	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937659	15937659	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:15937659C>T	ENST00000382333.1	-	3	891	c.597G>A	c.(595-597)gaG>gaA	p.E199E	FGFBP1_ENST00000259988.2_Silent_p.E199E	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	199	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TATCTGGGTCCTCCACACACT	0.562000													10	11					0	0	0.006214	0	0
MYO1B	4430	broad.mit.edu	37	2	192251958	192251958	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:192251958C>T	ENST00000392318.3	+	17	1810	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y	MYO1B_ENST00000304164.4_Silent_p.Y521Y|MYO1B_ENST00000339514.4_Silent_p.Y521Y|MYO1B_ENST00000392316.1_Silent_p.Y521Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	521	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGGTGCTGTACCAGGTGGAAG	0.433000													14	33					0	0	0.004007	0	0
NLRP12	91662	broad.mit.edu	37	19	54313058	54313058	+	Missense_Mutation	SNP	C	C	T	rs139082917		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54313058C>T	ENST00000324134.6	-	3	2023	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	NLRP12_ENST00000391775.3_Missense_Mutation_p.E619K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E619K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E619K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E619K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E619K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E619K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E619K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	619					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCTGGATCTCGTACAAGCAG	0.557000													35	67					0	0	0.002836	0	0
EIF3A	8661	broad.mit.edu	37	10	120818836	120818836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:120818836G>A	ENST00000369144.3	-	11	1644	c.1517C>T	c.(1516-1518)cCg>cTg	p.P506L	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P472L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	506					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGGACCAATCGGAGCATCTTC	0.403000													30	3					0	0	0.007291	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299403	125299403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:125299403C>T	ENST00000538699.1	-	2	585	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.E169K	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	169										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGGGGTTTTCGCCGCCGGTG	0.677000													41	79					0	0	0.001951	0	0
GALNS	2588	broad.mit.edu	37	16	88902217	88902217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:88902217G>A	ENST00000268695.5	-	7	762	c.674C>T	c.(673-675)cCc>cTc	p.P225L	GALNS_ENST00000542788.1_Missense_Mutation_p.P150L	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	225						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GAGGAAAAAGGGGTGGTGCCG	0.622000													39	34					0	0	0.001951	0	0
DALRD3	55152	broad.mit.edu	37	3	49055847	49055847	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49055847A>T	ENST00000341949.4	-	1	157	c.151T>A	c.(151-153)Ttc>Atc	p.F51I	DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.F51I|DALRD3_ENST00000496568.1_Intron|DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000313778.5_Intron	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	51					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTCATCGAAGCGCGCCTGC	0.731000													4	4					0	0	0.001984	0	0
C15orf59	388135	broad.mit.edu	37	15	74032633	74032633	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74032633G>A	ENST00000569673.1	-	3	1711	c.507C>T	c.(505-507)ccC>ccT	p.P169P	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.P169P			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	169										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTCACCGTGGGGCCAGCAC	0.637000													54	59					0	0	0.003610	0	0
STRA8	346673	broad.mit.edu	37	7	134916782	134916782	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:134916782C>T	ENST00000275764.3	+	1	52	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	18					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.L18M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGAAATCAGGCTGTGGCAGGT	0.512000													35	88					0	0	0.006230	0	0
FLG	2312	broad.mit.edu	37	1	152280644	152280644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152280644C>T	ENST00000368799.1	-	3	6753	c.6718G>A	c.(6718-6720)Gga>Aga	p.G2240R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2240	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTGGATCCCCGGGGCCTG	0.577000									Ichthyosis				35	113					0	0	0.004878	0	0
DNMT1	1786	broad.mit.edu	37	19	10248603	10248603	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10248603G>A	ENST00000340748.4	-	35	4385	c.4150C>T	c.(4150-4152)Ctg>Ttg	p.L1384L	DNMT1_ENST00000540357.1_Silent_p.L1384L|DNMT1_ENST00000359526.4_Silent_p.L1400L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1384	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGATCTCCAGTGCCGAGGCT	0.617000													20	20					0	0	0.002299	0	0
SLC33A1	9197	broad.mit.edu	37	3	155547508	155547508	+	Missense_Mutation	SNP	T	T	A	rs144015992	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:155547508T>A	ENST00000392845.2	-	5	1831	c.1451A>T	c.(1450-1452)aAc>aTc	p.N484I	SLC33A1_ENST00000359479.3_Missense_Mutation_p.N484I	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	484					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACAATTCTGGTTTGATGCTCC	0.368000													25	40					0	0	0.004656	0	0
VCX3B	425054	broad.mit.edu	37	X	8434287	8434287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:8434287G>A	ENST00000381032.1	+	3	911	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	VCX3B_ENST00000444481.1_Missense_Mutation_p.E172K|VCX3B_ENST00000381029.4_Missense_Mutation_p.E170K|VCX3B_ENST00000440654.2_Missense_Mutation_p.E152K|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	202	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAG	0.572000													102	407					0	0	0.003610	0	0
OCRL	4952	broad.mit.edu	37	X	128710349	128710349	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:128710349C>T	ENST00000371113.4	+	18	2100	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	OCRL_ENST00000357121.5_Silent_p.I645I	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	645					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTGTAACCATCCTGAACTCGG	0.408000													10	22					0	0	0.006214	0	0
RGPD3	653489	broad.mit.edu	37	2	107049638	107049638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:107049638C>T	ENST00000409886.3	-	16	2396	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.R770Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	770					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATCCGCATTTCGCAAAGAACC	0.388000													25	146					0	0	0.001512	0	0
CHD1L	9557	broad.mit.edu	37	1	146728204	146728204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:146728204C>T	ENST00000369258.4	+	5	502	c.482C>T	c.(481-483)tCa>tTa	p.S161L	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000431239.1_Missense_Mutation_p.S161L|CHD1L_ENST00000361293.5_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	161	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAAGATGCATCATTTCTAAAA	0.343000													15	52					0	0	0.007413	0	0
FCHSD2	9873	broad.mit.edu	37	11	72598615	72598615	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:72598615A>C	ENST00000409314.1	-	13	1286	c.1118T>G	c.(1117-1119)cTa>cGa	p.L373R	FCHSD2_ENST00000458644.2_Missense_Mutation_p.L213R|FCHSD2_ENST00000409853.1_Missense_Mutation_p.L293R|FCHSD2_ENST00000409418.4_Missense_Mutation_p.L349R|FCHSD2_ENST00000311172.7_Missense_Mutation_p.L293R			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	349							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CAGATCATTTAGAACCTATTA	0.343000													154	349					0	0	0.003610	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:29012249C>T	ENST00000377175.1	-	1	768	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000													29	58					0	0	0.001786	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027446	55027446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:55027446C>T	ENST00000324000.3	+	4	3115	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	361					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGCTGAGTTTCAGCTGCTGTA	0.488000													11	16					0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61829136	61829136	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:61829136G>A	ENST00000280772.1	-	37	11694	c.11503C>T	c.(11503-11505)Cta>Tta	p.L3835L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3835					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCCTTGTAGTACCCCTGTC	0.383000													7	10					0	0	0.003080	0	0
COL6A3	1293	broad.mit.edu	37	2	238296322	238296322	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:238296322G>A	ENST00000295550.4	-	4	1667	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	COL6A3_ENST00000392004.3_Silent_p.F199F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Silent_p.F405F|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Silent_p.F199F|COL6A3_ENST00000409809.1_Silent_p.F199F|COL6A3_ENST00000347401.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	405	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAAAGCTACGGAATTCCGGGA	0.537000													5	11					0	0	0.001168	0	0
CYFIP1	23191	broad.mit.edu	37	15	22928507	22928507	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:22928507C>T	ENST00000313077.7	+	5	509	c.384C>T	c.(382-384)ttC>ttT	p.F128F	CYFIP1_ENST00000560848.1_Silent_p.F128F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	128					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCATGTACTTCCAGGTAAAAT	0.493000													34	130					0	0	0.002445	0	0
IGSF10	285313	broad.mit.edu	37	3	151154752	151154752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151154752G>A	ENST00000282466.3	-	6	7596	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2533	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGTGGACGATTTGTAATT	0.483000													26	60					0	0	0.004656	0	0
CLU	1191	broad.mit.edu	37	8	27456144	27456144	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:27456144G>A	ENST00000316403.10	-	8	1578	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	CLU_ENST00000546343.1_Silent_p.S402S|CLU_ENST00000523500.1_Silent_p.S391S|CLU_ENST00000560366.1_Silent_p.S443S|CLU_ENST00000405140.3_Silent_p.S391S			P10909	CLUS_HUMAN	clusterin	391					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CAGAAGTGTGGGAAGCCACCT	0.502000													29	87					0	0	0.001786	0	0
DST	667	broad.mit.edu	37	6	56420376	56420376	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:56420376T>C	ENST00000370754.5	-	60	14809	c.14810A>G	c.(14809-14811)aAt>aGt	p.N4937S	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.N2671S|DST_ENST00000370788.2_Missense_Mutation_p.N2671S|DST_ENST00000446842.2_Missense_Mutation_p.N4433S|DST_ENST00000244364.6_Missense_Mutation_p.N2345S|DST_ENST00000370769.4_Missense_Mutation_p.N4759S|DST_ENST00000361203.3_Missense_Mutation_p.N4757S			Q03001	DYST_HUMAN	dystonin	4757					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGAGTTTATTATCCAAGTC	0.448000													4	16					0	0	0.000602	0	0
ZBTB43	23099	broad.mit.edu	37	9	129594835	129594835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:129594835C>T	ENST00000373464.4	+	3	311	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ZBTB43_ENST00000449886.1_Missense_Mutation_p.S16F|ZBTB43_ENST00000373457.1_Missense_Mutation_p.S16F	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGATTTTTCCAGCACCATT	0.433000													21	45					0	0	0.001523	0	0
SPRY3	10251	broad.mit.edu	37	X	155004261	155004261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:155004261G>A	ENST00000302805.2	+	2	1159	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	243	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTACCCGTGGATGCCTCCAT	0.592000													79	107					0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79034206	79034206	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:79034206G>A	ENST00000446378.2	+	2	9649	c.9618G>A	c.(9616-9618)aaG>aaA	p.K3206K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3206						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAAAGAAGGAAGAGGAGA	0.403000													4	4					0	0	0.000248	0	0
GJA8	2703	broad.mit.edu	37	1	147381176	147381176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:147381176C>T	ENST00000240986.4	+	2	1147	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	GJA8_ENST00000369235.1_Missense_Mutation_p.A365V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGAAGGTGGCCGTGCCAGAG	0.627000													9	12					0	0	0.004482	0	0
OR4L1	122742	broad.mit.edu	37	14	20528749	20528749	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20528749C>T	ENST00000315683.1	+	1	546	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGATCTTCCCCTTGTGATCA	0.403000													8	12					0	0	0.003080	0	0
SELP	6403	broad.mit.edu	37	1	169578870	169578870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169578870G>A	ENST00000263686.6	-	8	1242	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	SELP_ENST00000367793.2_Missense_Mutation_p.S340F|SELP_ENST00000367788.2_Missense_Mutation_p.S340F|SELP_ENST00000458599.2_Missense_Mutation_p.S340F|SELP_ENST00000367792.2_Missense_Mutation_p.S340F|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.S340F|SELP_ENST00000367786.2_Missense_Mutation_p.S340F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	402	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGCTCTCAAGGATGGAGAGCA	0.498000													3	5					0	0	0.004672	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912749	54912749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:54912749G>A	ENST00000293373.6	+	15	1551	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R441H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	491					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	p.R491H(2)		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						GACTGGTTCCGCCTACAGGTA	0.388000													14	7					0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71887775	71887775	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:71887775T>C	ENST00000258104.3	+	44	5157	c.4880T>C	c.(4879-4881)tTt>tCt	p.F1627S	DYSF_ENST00000409651.1_Missense_Mutation_p.F1659S|DYSF_ENST00000410020.3_Missense_Mutation_p.F1666S|DYSF_ENST00000410041.1_Missense_Mutation_p.F1645S|DYSF_ENST00000394120.2_Missense_Mutation_p.F1628S|DYSF_ENST00000409366.1_Missense_Mutation_p.F1649S|DYSF_ENST00000409582.3_Missense_Mutation_p.F1665S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.F1658S|DYSF_ENST00000429174.2_Missense_Mutation_p.F1648S|DYSF_ENST00000409744.1_Missense_Mutation_p.F1635S|DYSF_ENST00000409762.1_Missense_Mutation_p.F1644S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1627	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCCCGTATTTGGAAAGTAA	0.517000													10	26					0	0	0.000673	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711305	155711305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:155711305C>T	ENST00000295101.2	+	3	1463	c.986C>T	c.(985-987)cCt>cTt	p.P329L	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	329					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)	CGTTTTTTTCCTGTAATTTCC	0.388000													5	19					0	0	0.001168	0	0
GPR20	2843	broad.mit.edu	37	8	142367078	142367078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142367078C>T	ENST00000377741.3	-	2	1036	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	316						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TCACGCTCTCCGTGCTGGCCG	0.652000													19	94					0	0	0.001523	0	0
OR4D5	219875	broad.mit.edu	37	11	123810559	123810559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:123810559C>T	ENST00000307033.2	+	1	310	c.236C>T	c.(235-237)cCt>cTt	p.P79L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCACAGCACCTAGGATGCTG	0.483000													14	33					0	0	0.002450	0	0
PRSS1	5644	broad.mit.edu	37	7	142459675	142459675	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142459675A>T	ENST00000486171.1	+	4	310	c.293A>T	c.(292-294)aAt>aTt	p.N98I	PRSS1_ENST00000311737.7_Missense_Mutation_p.N84I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	84	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTGGAGGGGAATGAGCAGTTC	0.547000													36	85					0	0	0.005524	0	0
SLC22A18	5002	broad.mit.edu	37	11	2929473	2929473	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2929473G>T	ENST00000380574.1	+	3	586	c.155G>T	c.(154-156)cGg>cTg	p.R52L	SLC22A18_ENST00000449793.2_Missense_Mutation_p.R52L|SLC22A18_ENST00000347936.2_Missense_Mutation_p.R52L|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R52L			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	52					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTGTCTCGGAAACTGGGC	0.632000													7	314					0.00448238	0.0089169	0.004482	1	0
GDPD2	54857	broad.mit.edu	37	X	69652229	69652229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:69652229G>A	ENST00000453994.2	+	14	1894	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*	GDPD2_ENST00000538649.1_Nonsense_Mutation_p.W381*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.W381*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.W460*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	460					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTCTGCTTTGGTGTGCAGGGG	0.512000													54	120					0	0	0.003610	0	0
ARSH	347527	broad.mit.edu	37	X	2933366	2933366	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:2933366C>T	ENST00000381130.2	+	4	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	232						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATGAAATTATCCAGCAGCCAA	0.428000													11	27					0	0	0.001368	0	0
METTL7B	196410	broad.mit.edu	37	12	56077725	56077725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56077725G>A	ENST00000394252.3	+	2	836	c.627G>A	c.(625-627)tgG>tgA	p.W209*		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	209							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GAGAGACCTGGAAGGATCTTG	0.557000													23	89					0	0	0.003954	0	0
ATXN2	6311	broad.mit.edu	37	12	111908033	111908033	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:111908033G>A	ENST00000377617.3	-	20	3356	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.V776V|ATXN2_ENST00000389153.4_Silent_p.V802V|ATXN2_ENST00000542287.2_Silent_p.V800V	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1065	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGACTATAGACATGAGGAT	0.413000													20	56					0	0	0.001216	0	0
HGS	9146	broad.mit.edu	37	17	79653362	79653362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79653362C>T	ENST00000329138.4	+	3	278	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	48	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCTGTGAATTCCATCAAGAAG	0.473000													12	29					0	0	0.001368	0	0
FAM47A	158724	broad.mit.edu	37	X	34148451	34148451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:34148451C>T	ENST00000346193.3	-	1	1996	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	649								p.E649*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGGAACACTCCTTTACTTTC	0.453000													61	51					0	0	0.003610	0	0
COL5A3	50509	broad.mit.edu	37	19	10116264	10116264	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10116264C>T	ENST00000264828.3	-	4	649	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	188	TSP N-terminal.				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)			GGTCCTGGGTCCCCAGCACAG	0.557000													16	67					0	0	0.001882	0	0
PTPRD	5789	broad.mit.edu	37	9	8517901	8517901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:8517901G>A	ENST00000381196.4	-	18	2033	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	PTPRD_ENST00000540109.1_Missense_Mutation_p.S497L|PTPRD_ENST00000360074.4_Missense_Mutation_p.S484L|PTPRD_ENST00000537002.1_Missense_Mutation_p.S494L|PTPRD_ENST00000358503.5_Missense_Mutation_p.S484L|PTPRD_ENST00000486161.1_Missense_Mutation_p.S497L|PTPRD_ENST00000356435.5_Missense_Mutation_p.S497L|PTPRD_ENST00000397606.3_Missense_Mutation_p.S487L|PTPRD_ENST00000397611.3_Missense_Mutation_p.S494L|PTPRD_ENST00000397617.3_Missense_Mutation_p.S487L|PTPRD_ENST00000355233.5_Missense_Mutation_p.S497L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	497	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCTCCAATTGAGGTAAAAGC	0.458000										TSP Lung(15;0.13)			6	8					0	0	0.001984	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958625	57958625	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57958625C>T	ENST00000311591.3	+	1	720	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACCTGTTTATCATTGTGGCCA	0.542000													33	32					0	0	0.003271	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270151	1270151	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1270151C>T	ENST00000348261.5	+	35	6467	c.6219C>T	c.(6217-6219)acC>acT	p.T2073T	CACNA1H_ENST00000565831.1_Silent_p.T2067T|CACNA1H_ENST00000358590.4_Silent_p.T2067T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2073					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTAAGCATACCTTCGGACAGC	0.716000													13	9					0	0	0.004007	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870681	51870681	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:51870681C>T	ENST00000371497.5	+	2	1571	c.684C>T	c.(682-684)gtC>gtT	p.V228V	TSHZ2_ENST00000603338.2_Silent_p.V225V|TSHZ2_ENST00000329613.6_Silent_p.V225V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	228					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACACCCTAGTCGAGCTGACTG	0.547000													19	41					0	0	0.001523	0	0
MAP1A	4130	broad.mit.edu	37	15	43814203	43814203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43814203C>T	ENST00000382031.1	+	5	1277	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	MAP1A_ENST00000300231.5_Missense_Mutation_p.R178C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R178C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	178	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).			EKKDKE -> KKKRNS (in Ref. 5; CAA87104).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R178C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTCTATATCGTGTGGTCAG	0.562000													47	65					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26917527	26917527	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:26917527G>A	ENST00000539517.2	-	5	1479	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	NOVA1_ENST00000267422.7_Silent_p.L266L|NOVA1_ENST00000465357.2_Silent_p.L364L	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	391	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAGCAGCCAGGCTACCTAAT	0.537000													15	26					0	0	0.002450	0	0
C1orf186	440712	broad.mit.edu	37	1	206240150	206240150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:206240150G>A	ENST00000331555.5	-	5	940	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	101						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCAGGAGGCGAACTGCAGGA	0.512000													47	64					0	0	0.003610	0	0
GPR17	2840	broad.mit.edu	37	2	128408356	128408356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:128408356C>T	ENST00000544369.1	+	4	742	c.131C>T	c.(130-132)tCc>tTc	p.S44F	LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.S44F|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.S44F|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	44						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		accaacttctccctggccacg	0.532000											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	108					0	0	0.004289	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864765	22864765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:22864765G>A	ENST00000251822.6	+	5	1544	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R343Q|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R358Q	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	336	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		caccaTGGGCGAGACTTCCTG	0.687000													20	51					0	0	0.007413	0	0
MYLK	4638	broad.mit.edu	37	3	123456263	123456263	+	Missense_Mutation	SNP	G	G	A	rs137982786		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:123456263G>A	ENST00000360772.3	-	9	1094	c.716C>T	c.(715-717)tCg>tTg	p.S239L	MYLK_ENST00000360304.3_Missense_Mutation_p.S239L|MYLK_ENST00000346322.5_Missense_Mutation_p.S239L|MYLK_ENST00000475616.1_Missense_Mutation_p.S239L|MYLK_ENST00000359169.1_Missense_Mutation_p.S239L			Q15746	MYLK_HUMAN	myosin light chain kinase	239	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCCTTCCCCGACCCGTTCAC	0.572000													21	47					0	0	0.001882	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601455	48601455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48601455G>A	ENST00000354276.3	-	6	836	c.509C>T	c.(508-510)cCa>cTa	p.P170L	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P170L|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P180L|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P170L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	170	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGCAAATATTGGGTAGGGTAG	0.517000													49	84					0	0	0.003610	0	0
MGAT5	4249	broad.mit.edu	37	2	135119899	135119899	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:135119899T>A	ENST00000409645.1	+	11	1552	c.1300T>A	c.(1300-1302)Tcc>Acc	p.S434T	MGAT5_ENST00000281923.2_Missense_Mutation_p.S434T			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	434					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCACCTGAACTCCAGTGATAT	0.478000													57	94					0	0	0.003610	0	0
ANO1	55107	broad.mit.edu	37	11	69978078	69978078	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:69978078A>T	ENST00000355303.5	+	11	1456	c.1151A>T	c.(1150-1152)aAg>aTg	p.K384M	ANO1_ENST00000538023.1_Missense_Mutation_p.K384M|ANO1_ENST00000398543.2_Missense_Mutation_p.K268M|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000530676.1_Missense_Mutation_p.K268M|ANO1_ENST00000316296.5_Missense_Mutation_p.K356M|ANO1_ENST00000531349.1_Missense_Mutation_p.K119M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	384					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTTTGCGACAAGACCTGCAGC	0.597000													16	11					0	0	0.006122	0	0
TGM4	7047	broad.mit.edu	37	3	44951708	44951708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:44951708G>A	ENST00000296125.4	+	11	1522	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	485					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTGCTGCTGGGAAACTCTGTT	0.458000													35	88					0	0	0.002836	0	0
FAM178A	55719	broad.mit.edu	37	10	102684190	102684190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:102684190C>T	ENST00000238961.3	+	5	1580	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	FAM178A_ENST00000370271.3_Missense_Mutation_p.R478C|FAM178A_ENST00000370269.3_Missense_Mutation_p.R478C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	478								p.R478S(1)									TTTACTTTCCCGTGTTCCAAG	0.383000													55	7					0	0	0.003610	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219000488C>T	ENST00000318507.2	+	3	1391	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000													33	76					0	0	0.003271	0	0
OR10J1	26476	broad.mit.edu	37	1	159409868	159409868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159409868G>A	ENST00000423932.3	+	1	357	c.320G>A	c.(319-321)gGg>gAg	p.G107E	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	107					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.G107E(1)|p.G107V(1)|p.G263E(1)|p.G263V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCATTGGCAGGGTGTGCCACA	0.493000													11	31					0	0	0.000978	0	0
SPDL1	54908	broad.mit.edu	37	5	169028327	169028327	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:169028327C>T	ENST00000265295.4	+	11	1647	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GTGAGGTGCTCCCTGTGGATA	0.443000													16	10					0	0	0.001523	0	0
KCNG4	93107	broad.mit.edu	37	16	84256268	84256268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84256268C>T	ENST00000308251.4	-	3	1183	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	372						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AAGGAGCAGGCCGAACTCACG	0.662000													9	18					0	0	0.004482	0	0
ABHD12	26090	broad.mit.edu	37	20	25300863	25300863	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:25300863G>A	ENST00000339157.5	-	4	786	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	ABHD12_ENST00000376542.3_Silent_p.L172L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	172						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGCAGGTACAGAATGATAGGG	0.577000													9	47					0	0	0.006214	0	0
BRIP1	83990	broad.mit.edu	37	17	59853824	59853824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:59853824G>A	ENST00000259008.2	-	14	2302	c.2035C>T	c.(2035-2037)Ctt>Ttt	p.L679F	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.L679F	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	679					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GATAACAAAAGTGCTCCCACT	0.423000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					15	43					0	0	0.004990	0	0
GJA1	2697	broad.mit.edu	37	6	121769042	121769042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:121769042G>A	ENST00000282561.3	+	2	1206	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	350					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAGCTGCTGGACATGAATTA	0.517000													40	36					0	0	0.006230	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089185	113089185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113089185C>T	ENST00000409871.1	+	12	3091	c.2690C>T	c.(2689-2691)tCa>tTa	p.S897L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S897L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	897							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CCAGTGTCTTCAATCAATTTA	0.408000													12	23					0	0	0.000978	0	0
ST18	9705	broad.mit.edu	37	8	53044701	53044701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:53044701G>A	ENST00000276480.7	-	22	3166	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	828						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTATTTACCTGATATGTGACC	0.507000													6	18					0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61833994	61833994	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:61833994C>T	ENST00000280772.1	-	37	6836	c.6645G>A	c.(6643-6645)aaG>aaA	p.K2215K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2215					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGCTTTAACCTTTTCTTTAA	0.423000													10	10					0	0	0.006214	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32096682	32096682	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:32096682T>C	ENST00000375250.5	-	18	2596	c.2355A>G	c.(2353-2355)ccA>ccG	p.P785P	ARHGAP12_ENST00000344936.2_Silent_p.P815P|ARHGAP12_ENST00000396144.4_Silent_p.P810P|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Silent_p.P763P|ARHGAP12_ENST00000311380.4_Silent_p.P763P	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	815	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCTCTTTTTCTGGTTTTAATA	0.353000													12	12					0	0	0.002450	0	0
NLK	51701	broad.mit.edu	37	17	26370197	26370197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:26370197G>A	ENST00000407008.3	+	1	1016	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	NLK_ENST00000582037.1_Missense_Mutation_p.G100R|NLK_ENST00000583517.1_3'UTR	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	100					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCGGCACCGGGGCAGGCTCC	0.627000													9	31					0	0	0.004482	0	0
IL16	3603	broad.mit.edu	37	15	81582852	81582852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:81582852G>A	ENST00000394660.2	+	11	1751	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E	IL16_ENST00000302987.4_Missense_Mutation_p.G464E	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	464					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCAAGTTTGGAAAGGAGAGG	0.408000													35	39					0	0	0.001951	0	0
FFAR4	338557	broad.mit.edu	37	10	95347163	95347163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:95347163G>A	ENST00000371483.4	+	4	987	c.931G>A	c.(931-933)Gac>Aac	p.D311N	FFAR4_ENST00000371481.4_Missense_Mutation_p.D295N|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		CTTCAAGCAAGACCTGGTCAT	0.522000													130	13					0	0	0.003610	0	0
CREBRF	153222	broad.mit.edu	37	5	172537614	172537614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:172537614C>T	ENST00000540014.1	+	7	1832	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	CREBRF_ENST00000296953.2_Missense_Mutation_p.R503W			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	503							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CAATGAACTTCGGAAACTGAA	0.428000													18	28					0	0	0.006122	0	0
NMUR2	56923	broad.mit.edu	37	5	151771997	151771997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:151771997G>A	ENST00000255262.3	-	4	1168	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	335					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AATGCTGCCTGGAAGCGGCGA	0.502000													37	26					0	0	0.007835	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605326	31605326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31605326G>A	ENST00000376033.2	+	31	6671	c.6437G>A	c.(6436-6438)cGa>cAa	p.R2146Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2146Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2146						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGGTCCCGAGGGGACAAG	0.632000													23	44					0	0	0.002780	0	0
VEZT	55591	broad.mit.edu	37	12	95689939	95689939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:95689939C>T	ENST00000436874.1	+	11	1841	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	VEZT_ENST00000261219.6_Missense_Mutation_p.S531F|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	579						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CATGAAGAATCCAAGAGGGTG	0.373000													4	4					0	0	0.000248	0	0
ZNF292	23036	broad.mit.edu	37	6	87970415	87970415	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:87970415T>C	ENST00000369577.3	+	8	7111	c.7068T>C	c.(7066-7068)ccT>ccC	p.P2356P	ZNF292_ENST00000339907.4_Silent_p.P2351P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAATAAGCCTTATTCTCTGA	0.353000													5	12					0	0	0.001984	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633210	153633210	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153633210C>T	ENST00000369809.1	-	6	899	c.270G>A	c.(268-270)ctG>ctA	p.L90L	DNASE1L1_ENST00000393638.1_Silent_p.L90L	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	90					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGCGCCCCAGCTGGGGGC	0.642000													13	38					0	0	0.004990	0	0
C1orf95	375057	broad.mit.edu	37	1	226788371	226788371	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:226788371C>T	ENST00000366788.3	+	3	492	c.387C>T	c.(385-387)tcC>tcT	p.S129S	C1orf95_ENST00000366789.4_Intron	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	129						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CTGCAGTTTCCCAAGGTGAGT	0.612000													42	61					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117710870	117710870	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:117710870T>G	ENST00000368508.3	-	12	1600	c.1402A>C	c.(1402-1404)Att>Ctt	p.I468L	ROS1_ENST00000368507.3_Missense_Mutation_p.I477L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	468					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGAAGTAAATGATTCGCTTG	0.483000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	2					0	0	0.000978	0	0
SLC6A14	11254	broad.mit.edu	37	X	115588829	115588829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:115588829C>T	ENST00000371900.4	+	13	1757	c.1669C>T	c.(1669-1671)Cca>Tca	p.P557S	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	557					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGCGCAATTCCATACCCTGA	0.353000													44	109					0	0	0.002852	0	0
RSAD1	55316	broad.mit.edu	37	17	48559708	48559708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48559708C>T	ENST00000258955.2	+	4	816	c.731C>T	c.(730-732)gCc>gTc	p.A244V		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	244					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGCGGGGTGCCCTTCCAGCC	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	50					0	0	0.003610	0	0
LYST	1130	broad.mit.edu	37	1	235887328	235887328	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:235887328C>T	ENST00000389794.3	-	39	9489	c.9315_splice	c.e39+1	p.K3105_splice	LYST_ENST00000389793.2_Splice_Site_p.K3105_splice|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3105					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAATTTACCTTGGTGTTAT	0.348000													28	27					0	0	0.001786	0	0
DNAH3	55567	broad.mit.edu	37	16	20994187	20994187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20994187G>A	ENST00000261383.3	-	49	7714	c.7715C>T	c.(7714-7716)gCc>gTc	p.A2572V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2572	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTCCTGAAGGCATCCCCTAT	0.517000													23	62					0	0	0.004656	0	0
PRODH2	58510	broad.mit.edu	37	19	36304130	36304130	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:36304130C>T	ENST00000301175.3	-	1	71	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	18					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			cgtttgtaatcccaacacttt	0.408000													17	8					0	0	0.004007	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325107	79325107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:79325107C>T	ENST00000428286.1	-	8	2206	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D695N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	695					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTCTCCTATCAATGGAGCTT	0.448000													4	13					0	0	0.000248	0	0
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:533875G>T	ENST00000417302.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			91	49					1.21397e-27	2.46075e-27	0.003610	1	0
SLC26A4	5172	broad.mit.edu	37	7	107329599	107329599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107329599G>A	ENST00000265715.3	+	9	1327	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	368					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTGTCAGTAGGAAAAGTATAT	0.458000									Pendred syndrome				7	24					0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882158	228882158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228882158C>T	ENST00000392056.3	-	7	3458	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1138K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1138						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTTCATTTTCCATCTGGTTC	0.537000													11	22					0	0	0.000673	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392145	3392145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:3392145C>T	ENST00000324266.5	+	2	946	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L251F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	251							binding										cccgccTCCCCTCGCTGTGCC	0.721000													8	10					0	0	0.001368	0	0
NPR2	4882	broad.mit.edu	37	9	35793935	35793935	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:35793935C>T	ENST00000342694.2	+	2	963	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	236					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGCATGAGATCCTGCTTCAGG	0.552000													39	42					0	0	0.003610	0	0
STIM1	6786	broad.mit.edu	37	11	4103472	4103472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4103472C>T	ENST00000300737.4	+	8	1597	c.1028C>T	c.(1027-1029)gCt>gTt	p.A343V	STIM1_ENST00000527651.1_Missense_Mutation_p.A343V|STIM1_ENST00000533977.1_Missense_Mutation_p.A170V	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	343					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCATGGTATGCTCCAGAGGCC	0.502000													18	34					0	0	0.007413	0	0
DDX17	10521	broad.mit.edu	37	22	38891910	38891910	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:38891910G>A	ENST00000396821.3	-	6	870	c.771C>T	c.(769-771)gcC>gcT	p.A257A	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.A178A	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	178	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.A257A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GTACTTGCTGGGCAAGCTCTC	0.413000													29	123					0	0	0.004878	0	0
TLK2	11011	broad.mit.edu	37	17	60685476	60685476	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:60685476C>T	ENST00000582809.1	+	22	2302	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TLK2_ENST00000542523.1_Silent_p.F650F|TLK2_ENST00000343388.7_Silent_p.F650F|TLK2_ENST00000346027.5_Silent_p.F682F|TLK2_ENST00000326270.9_Silent_p.F704F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	704	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAGTGCAGTTCCCGCCAAAGC	0.408000													16	38					0	0	0.006122	0	0
PHKA1	5255	broad.mit.edu	37	X	71825148	71825148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:71825148C>T	ENST00000373545.3	-	24	3049	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	PHKA1_ENST00000373542.4_Missense_Mutation_p.E930K|PHKA1_ENST00000373539.3_Missense_Mutation_p.E930K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E930K|PHKA1_ENST00000541944.1_Missense_Mutation_p.E871K			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	930					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGGGCCAGTTCTGTTGCCATA	0.393000													6	6					0	0	0.001168	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926337	106926337	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106926337G>A	ENST00000434710.1	-	0	284																											CAACTAATAAGAGAGACCCAC	0.507000													45	73					0	0	0.003610	0	0
COL4A6	1288	broad.mit.edu	37	X	107418929	107418929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107418929C>T	ENST00000394872.2	-	29	3019	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R	COL4A6_ENST00000538570.1_Missense_Mutation_p.G929R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G929R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G930R|COL4A6_ENST00000334504.7_Missense_Mutation_p.G929R			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	930	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCATTTTTCCAGTTGATCCT	0.458000									Alport syndrome with Diffuse Leiomyomatosis				10	19					0	0	0.000673	0	0
SUN1	23353	broad.mit.edu	37	7	888144	888144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:888144G>A	ENST00000456758.2	+	9	922	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	SUN1_ENST00000405266.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000413514.2_5'UTR|SUN1_ENST00000425407.2_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTTTCAAGTGGTTTTAAT	0.333000													222	295					0	0	0.003610	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840578	840578	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:840578G>A	ENST00000511539.1	-	2	281	c.177C>T	c.(175-177)ccC>ccT	p.P59P	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCAGCCTTGGGGGGATCGGG	0.602000													19	38					0	0	0.007413	0	0
UNC45B	146862	broad.mit.edu	37	17	33482456	33482456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:33482456C>T	ENST00000268876.5	+	7	878	c.781C>T	c.(781-783)Cga>Tga	p.R261*	UNC45B_ENST00000433649.1_Nonsense_Mutation_p.R261*|UNC45B_ENST00000394570.2_Nonsense_Mutation_p.R261*|UNC45B_ENST00000591048.1_Nonsense_Mutation_p.R261*|UNC45B_ENST00000378449.1_Nonsense_Mutation_p.R261*	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	261					cell differentiation|muscle organ development	cytosol	binding	p.R261R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCGGGAGCATCGAGGGAAGGA	0.527000													32	139					0	0	0.007835	0	0
STEAP3	55240	broad.mit.edu	37	2	120003148	120003148	+	Missense_Mutation	SNP	G	G	A	rs148260187		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120003148G>A	ENST00000354888.5	+	3	580	c.76G>A	c.(76-78)Gat>Aat	p.D26N	STEAP3_ENST00000393110.2_Missense_Mutation_p.D36N|STEAP3_ENST00000425223.2_Missense_Mutation_p.D26N|STEAP3_ENST00000393108.2_Missense_Mutation_p.D26N|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.D26N|STEAP3_ENST00000409811.1_Missense_Mutation_p.D26N|STEAP3_ENST00000393106.2_Missense_Mutation_p.D26N|STEAP3_ENST00000393107.2_Missense_Mutation_p.D26N	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	26					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGGTCCCCGATGAGGCCCC	0.617000													23	48					0	0	0.003954	0	0
BMPER	168667	broad.mit.edu	37	7	34125405	34125405	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:34125405A>G	ENST00000297161.2	+	14	1820	c.1446A>G	c.(1444-1446)gaA>gaG	p.E482E	BMPER_ENST00000426693.1_Silent_p.E482E	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	482	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTTGTAGAAGTCATGGCTG	0.433000													11	38					0	0	0.001368	0	0
CUL4B	8450	broad.mit.edu	37	X	119694132	119694132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:119694132G>A	ENST00000371322.5	-	1	423	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CUL4B_ENST00000336592.6_Missense_Mutation_p.S126F|CUL4B_ENST00000404115.3_Missense_Mutation_p.S139F	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	139	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ggaggaggaggaggaTTCCTC	0.478000													27	49					0	0	0.001512	0	0
MYH8	4626	broad.mit.edu	37	17	10296528	10296528	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10296528C>T	ENST00000403437.2	-	36	5261		c.e36-1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						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						GACTGGTATTCTGTTAAAAGT	0.398000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				39	130					0	0	0.001951	0	0
DIAPH1	1729	broad.mit.edu	37	5	140966731	140966731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140966731C>T	ENST00000253811.6	-	3	318	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DIAPH1_ENST00000520569.1_Missense_Mutation_p.E6K|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E51K|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E60K|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E51K|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E60K|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E51K|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E51K			O60610	DIAP1_HUMAN	diaphanous-related formin 1	60					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTTCTCCTTCTTAATT	0.393000													3	6					0	0	0.000248	0	0
GPR149	344758	broad.mit.edu	37	3	154056019	154056019	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:154056019C>T	ENST00000389740.2	-	4	1764	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	555						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACACAGTCCCCTGGAATGCAC	0.448000													18	38					0	0	0.001523	0	0
CD163L1	283316	broad.mit.edu	37	12	7531810	7531810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7531810C>T	ENST00000313599.3	-	9	2192	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000396630.1_Missense_Mutation_p.G712E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G722E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	712	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACACAGAATTCCCACGGCACC	0.502000													25	18					0	0	0.003330	0	0
OR4M1	441670	broad.mit.edu	37	14	20249310	20249310	+	Missense_Mutation	SNP	C	C	T	rs3968186		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20249310C>T	ENST00000315957.4	+	1	910	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGTGTTTCATACTGTAAT	0.388000													19	55					0	0	0.001216	0	0
PCLO	27445	broad.mit.edu	37	7	82544283	82544283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82544283G>A	ENST00000423517.2	-	7	13356	c.13019C>T	c.(13018-13020)aCc>aTc	p.T4340I	PCLO_ENST00000437081.1_Missense_Mutation_p.T1060I|PCLO_ENST00000333891.8_Missense_Mutation_p.T4340I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4271					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						TGGCAAACTGGTCGGCTTAGT	0.463000													6	8					0	0	0.006214	0	0
UPF1	5976	broad.mit.edu	37	19	18960951	18960951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:18960951G>A	ENST00000262803.5	+	4	801	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	UPF1_ENST00000599848.1_Missense_Mutation_p.G177R|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	177	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGGCCCCTGGGGGAGACAGT	0.557000													56	88					0	0	0.003610	0	0
VIPAS39	63894	broad.mit.edu	37	14	77919712	77919712	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77919712G>A	ENST00000553888.1	-	3	636	c.126C>T	c.(124-126)ctC>ctT	p.L42L	VIPAS39_ENST00000556412.1_Silent_p.L68L|VIPAS39_ENST00000448935.2_Silent_p.L42L|VIPAS39_ENST00000343765.2_Silent_p.L42L|VIPAS39_ENST00000327028.4_Silent_p.L42L|VIPAS39_ENST00000557658.1_Silent_p.L42L	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CGAAGTCTCGGAGGCTGTTCA	0.532000													74	265					0	0	0.003610	0	0
NOX1	27035	broad.mit.edu	37	X	100104886	100104886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:100104886C>T	ENST00000372966.3	-	10	1376	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.D391N|NOX1_ENST00000372960.4_Missense_Mutation_p.D354N	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	391	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGAAAACATCCTCACTGGCT	0.502000													4	19					0	0	0.000248	0	0
DNAH17	8632	broad.mit.edu	37	17	76565274	76565274	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76565274A>G	ENST00000389840.5	-	9	1382	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	DNAH17_ENST00000585328.1_Missense_Mutation_p.F420L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCTGGAAGAAGGAATTTATC	0.507000													8	8					0	0	0.004482	0	0
TEKT3	64518	broad.mit.edu	37	17	15222412	15222412	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:15222412T>C	ENST00000395930.1	-	5	902	c.716A>G	c.(715-717)aAg>aGg	p.K239R	TEKT3_ENST00000338696.2_Missense_Mutation_p.K239R	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	239					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGCAATAGCCTTATCCAAATG	0.294000													68	57					0	0	0.003610	0	0
ZNF107	51427	broad.mit.edu	37	7	64167814	64167814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:64167814C>T	ENST00000395391.1	+	4	2507	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.H378Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.H378Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTGCAGA	0.328000													13	41					0	0	0.002450	0	0
UNC79	57578	broad.mit.edu	37	14	94046543	94046543	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94046543T>A	ENST00000553484.1	+	19	2636	c.2482T>A	c.(2482-2484)Tca>Aca	p.S828T	UNC79_ENST00000256339.4_Missense_Mutation_p.S651T|UNC79_ENST00000555664.1_Missense_Mutation_p.S828T|UNC79_ENST00000393151.2_Missense_Mutation_p.S828T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	828						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						GCACAGCTTATCAAAGGACAT	0.418000													33	28					0	0	0.002836	0	0
LRP2	4036	broad.mit.edu	37	2	170097612	170097612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:170097612G>A	ENST00000263816.3	-	25	4216	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRP2_ENST00000443831.1_Missense_Mutation_p.R1174C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1311	LDL-receptor class A 15.				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)	CTAGGACAGCGAAAGGGCTGA	0.517000													17	37					0	0	0.006122	0	0
SPTA1	6708	broad.mit.edu	37	1	158585143	158585143	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158585143C>T	ENST00000368148.3	-	48	6831	c.6651G>A	c.(6649-6651)gtG>gtA	p.V2217V	SPTA1_ENST00000368147.3_Silent_p.V2214V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2217					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCCAGGTCCACAATCTTGG	0.493000													32	47					0	0	0.003755	0	0
ASTN1	460	broad.mit.edu	37	1	177133586	177133586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:177133586C>T	ENST00000367654.2	-	1	240	c.227G>A	c.(226-228)gGa>gAa	p.G76E	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G76E|ASTN1_ENST00000424564.2_Missense_Mutation_p.G76E|ASTN1_ENST00000361833.2_Missense_Mutation_p.G76E			O14525	ASTN1_HUMAN	astrotactin 1	76					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						GACCATTTCTCCCGGGAAGTC	0.672000													12	33					0	0	0.001368	0	0
KLHL4	56062	broad.mit.edu	37	X	86869550	86869550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:86869550C>T	ENST00000373119.4	+	3	849	c.704C>T	c.(703-705)tCc>tTc	p.S235F	KLHL4_ENST00000373114.4_Missense_Mutation_p.S235F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	235	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCACTAAATTCCTTGGTGCAG	0.363000													3	9					0	0	0.004672	0	0
CGN	57530	broad.mit.edu	37	1	151495951	151495951	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:151495951G>A	ENST00000271636.7	+	6	1315	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	388	Glu-rich.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGGAGCGGCAGCTGGAGG	0.572000													32	149					0	0	0.001786	0	0
CALN1	83698	broad.mit.edu	37	7	71571238	71571238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:71571238C>T	ENST00000395275.2	-	4	674	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	CALN1_ENST00000329008.5_Missense_Mutation_p.G54S|CALN1_ENST00000431984.1_Missense_Mutation_p.G54S|CALN1_ENST00000405452.2_Missense_Mutation_p.G54S|CALN1_ENST00000395276.2_Missense_Mutation_p.G54S|CALN1_ENST00000412588.1_Missense_Mutation_p.G96S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	54	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGATGAAGCCGTTCCCATCC	0.552000													9	46					0	0	0.001368	0	0
BRAF	673	broad.mit.edu	37	7	140481403	140481403	+	Missense_Mutation	SNP	C	C	T	rs121913358		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:140481403C>T	ENST00000288602.6	-	11	1465	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469R(6)|p.G469S(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACTGTTCCAAATGATCCA	0.373000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	110					0	0	0.003954	0	0
SLC35F5	80255	broad.mit.edu	37	2	114480716	114480716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:114480716G>A	ENST00000245680.2	-	13	1719	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	436					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ATGGACAGAGGTATTGTAAGG	0.299000													61	32					0	0	0.003610	0	0
SCAF1	58506	broad.mit.edu	37	19	50154632	50154632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50154632C>T	ENST00000360565.3	+	7	1110	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	329					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCACACAGCCGACTCCCGCC	0.701000													15	35					0	0	0.003163	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:140995048G>A	ENST00000285879.4	+	4	2144	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	620							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)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)			78	137					0	0	0.003610	0	0
CIRH1A	84916	broad.mit.edu	37	16	69177168	69177168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:69177168C>T	ENST00000563094.1	+	6	648	c.614C>T	c.(613-615)tCc>tTc	p.S205F	CIRH1A_ENST00000352319.4_Missense_Mutation_p.S205F|CIRH1A_ENST00000314423.7_Missense_Mutation_p.S205F|CIRH1A_ENST00000569615.2_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	205						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCTTCTTGTCCGATGGCACT	0.522000													45	81					0	0	0.003610	0	0
CDX4	1046	broad.mit.edu	37	X	72667221	72667221	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:72667221C>T	ENST00000373514.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CCTCCAATTTCGCTGCGGCAC	0.642000													11	25					0	0	0.000673	0	0
HSPG2	3339	broad.mit.edu	37	1	22165414	22165414	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:22165414A>C	ENST00000374695.3	-	74	10133	c.10054T>G	c.(10054-10056)Ttt>Gtt	p.F3352V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3352	Ig-like C2-type 19.				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)	GCACGCTCAAAGTGCAGCAGC	0.672000													23	2					0	0	0.003330	0	0
OSCP1	127700	broad.mit.edu	37	1	36888417	36888417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:36888417C>T	ENST00000356637.5	-	7	794	c.731G>A	c.(730-732)gGt>gAt	p.G244D	OSCP1_ENST00000433045.2_Missense_Mutation_p.G189D|OSCP1_ENST00000315643.9_Missense_Mutation_p.G244D|OSCP1_ENST00000235532.5_Missense_Mutation_p.G234D|OSCP1_ENST00000495222.1_5'UTR			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	244					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TTCAAAAGAACCTTCTTTGGG	0.398000													25	1					0	0	0.005443	0	0
C3orf72	401089	broad.mit.edu	37	3	138669176	138669176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:138669176G>A	ENST00000383165.3	+	3	421	c.290G>A	c.(289-291)gGg>gAg	p.G97E		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	97										large_intestine(1)|lung(3)	4						GCTCTACTAGGGAAGCGTCGC	0.687000													20	38					0	0	0.001523	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													4	45					0	0	0.001984	0	0
GPR101	83550	broad.mit.edu	37	X	136113378	136113378	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:136113378G>A	ENST00000298110.1	-	1	455	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGTGCCATAGAGGAGCAGGT	0.577000													36	22					0	0	0.006230	0	0
YBEY	54059	broad.mit.edu	37	21	47716087	47716087	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47716087C>T	ENST00000329319.3	+	4	749	c.351C>T	c.(349-351)acC>acT	p.T117T	YBEY_ENST00000397691.1_Silent_p.T117T|YBEY_ENST00000397694.1_Silent_p.T72T|YBEY_ENST00000339195.6_Silent_p.T74T|YBEY_ENST00000397692.1_Silent_p.T29T|YBEY_ENST00000397701.4_Silent_p.T117T	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	117							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TGACGGCCACCCACGGACTCT	0.622000													52	84					0	0	0.003610	0	0
ADCY7	113	broad.mit.edu	37	16	50339721	50339721	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:50339721C>T	ENST00000394697.2	+	14	2053	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	ADCY7_ENST00000254235.3_Silent_p.T571T|ADCY7_ENST00000566433.2_Silent_p.T571T|ADCY7_ENST00000538642.1_Silent_p.T571T|ADCY7_ENST00000537579.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	571					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACTTCTACACCTTTGGGTCCA	0.667000													31	50					0	0	0.002836	0	0
FCGBP	8857	broad.mit.edu	37	19	40434112	40434112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40434112G>A	ENST00000221347.6	-	2	164	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	53	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGAGGCGGGGGTAGGCCTTG	0.572000													33	84					0	0	0.004289	0	0
MYH2	4620	broad.mit.edu	37	17	10427136	10427136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10427136C>T	ENST00000245503.5	-	36	5625	c.5241G>A	c.(5239-5241)atG>atA	p.M1747I	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M1747I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1747					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAATGTCCTCCATCTCTCCTT	0.433000													18	35					0	0	0.006122	0	0
CCDC160	347475	broad.mit.edu	37	X	133378858	133378858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:133378858G>A	ENST00000517294.1	+	3	411	c.28G>A	c.(28-30)Gag>Aag	p.E10K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E10K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	10										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						ACACTGGAAGGAGAATATGTT	0.388000													7	9					0	0	0.004482	0	0
XPO7	23039	broad.mit.edu	37	8	21859730	21859730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:21859730G>A	ENST00000434536.1	+	25	3019	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	XPO7_ENST00000433566.4_Missense_Mutation_p.E965K|XPO7_ENST00000252512.9_Missense_Mutation_p.E964K			Q9UIA9	XPO7_HUMAN	exportin 7	964					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCTGAACCAGGAGAGCGACCG	0.557000													8	12					0	0	0.003080	0	0
AMELX	265	broad.mit.edu	37	X	11317009	11317009	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:11317009C>T	ENST00000380712.3	+	6	596	c.528C>T	c.(526-528)ttC>ttT	p.F176F	AMELX_ENST00000380714.3_Silent_p.F162F|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Silent_p.F146F|ARHGAP6_ENST00000337414.4_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	162					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CTCCGATGTTCCCCATGCAGC	0.607000													31	9					0	0	0.003755	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:51900733G>A	ENST00000268919.4	+	1	495	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000													31	76					0	0	0.007291	0	0
MDN1	23195	broad.mit.edu	37	6	90432827	90432827	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:90432827C>T	ENST00000369393.3	-	40	5929	c.5814G>A	c.(5812-5814)ggG>ggA	p.G1938G	MDN1_ENST00000428876.1_Silent_p.G1938G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1938					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCTTTTTGCCCCCATTTCT	0.483000													19	2					0	0	0.001523	0	0
MUC4	4585	broad.mit.edu	37	3	195517233	195517233	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:195517233G>C	ENST00000463781.3	-	2	1677	c.1218C>G	c.(1216-1218)aaC>aaG	p.N406K	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N406K|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	411					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCCTCTGTGTTTCCAAGAG	0.458000													63	80					0	0	0.003610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046938	76046938	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76046938T>C	ENST00000335749.4	+	3	2364	c.1795T>C	c.(1795-1797)Tgg>Cgg	p.W599R	TNRC6C_ENST00000588061.1_Missense_Mutation_p.W599R|TNRC6C_ENST00000541771.1_Missense_Mutation_p.W599R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.W599R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.W599R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.W599R	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	599	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGGGGAGATTGGGCAGATTC	0.527000													30	58					0	0	0.001786	0	0
UBE2I	7329	broad.mit.edu	37	16	1370563	1370563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1370563C>T	ENST00000402301.1	+	5	494	c.458C>T	c.(457-459)cCc>cTc	p.P153L	UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000566587.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397515.2_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	31					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CCTCCCCGTCCCAGCCAAGGC	0.622000													27	30					0	0	0.005443	0	0
DCTN2	10540	broad.mit.edu	37	12	57924491	57924491	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57924491A>G	ENST00000548249.1	-	14	1454	c.1187T>C	c.(1186-1188)aTg>aCg	p.M396T	DCTN2_ENST00000537439.1_Missense_Mutation_p.M373T|DCTN2_ENST00000543672.1_Missense_Mutation_p.M401T|DCTN2_ENST00000434715.3_Missense_Mutation_p.M401T	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	396					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CAGCTTCTTCATCCGTTCATC	0.483000													48	96					0	0	0.003610	0	0
LY6G5B	58496	broad.mit.edu	37	6	31639822	31639822	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31639822C>T	ENST00000375864.4	+	3	1153	c.369C>T	c.(367-369)ccC>ccT	p.P123P	CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR|LY6G5B_ENST00000409525.1_Silent_p.P68P	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	123						extracellular region				lung(4)	4						ATGACAGGCCCCTGGCCCTGC	0.597000													85	247					0	0	0.003610	0	0
KRT73	319101	broad.mit.edu	37	12	53002032	53002032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53002032G>A	ENST00000305748.3	-	9	1605	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	524	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTTCCCTGGGAGTCCCTGAA	0.562000													32	87					0	0	0.001512	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890878	23890878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:23890878G>A	ENST00000532292.1	-	1	297	c.203C>T	c.(202-204)tCg>tTg	p.S68L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGCGGACCCGATGCCTGGGC	0.701000													8	7					0	0	0.003080	0	0
BTRC	8945	broad.mit.edu	37	10	103292777	103292777	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:103292777C>T	ENST00000370187.3	+	9	1165	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	BTRC_ENST00000393441.4_Silent_p.L308L|BTRC_ENST00000408038.2_Silent_p.L313L	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	349					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TCCTCTGTCTCCAGTATGATG	0.403000													35	53					0	0	0.003755	0	0
ZNF500	26048	broad.mit.edu	37	16	4812659	4812659	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4812659C>A	ENST00000219478.6	-	3	812	c.513G>T	c.(511-513)gaG>gaT	p.E171D	ZNF500_ENST00000545009.1_Missense_Mutation_p.E171D			O60304	ZN500_HUMAN	zinc finger protein 500	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAGCCTCTTCCTCCAGGGACA	0.622000													35	67					3.11337e-16	6.28662e-16	0.002836	1	0
PDE5A	8654	broad.mit.edu	37	4	120528211	120528211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:120528211C>T	ENST00000354960.3	-	2	713	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PDE5A_ENST00000394439.1_Missense_Mutation_p.E80K|PDE5A_ENST00000264805.5_Missense_Mutation_p.E90K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	132					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GGCATCTGTTCCTTCTTTTCT	0.453000													12	23					0	0	0.001368	0	0
LARP1B	55132	broad.mit.edu	37	4	129120747	129120747	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:129120747C>T	ENST00000326639.6	+	16	2368	c.2157C>T	c.(2155-2157)tgC>tgT	p.C719C	LARP1B_ENST00000354456.3_Silent_p.C138C|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Silent_p.C660C|LARP1B_ENST00000441387.1_Silent_p.C719C	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	719							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTCGAAGATGCCTAAGTGGTA	0.313000													6	6					0	0	0.003080	0	0
PADI6	353238	broad.mit.edu	37	1	17714972	17714972	+	RNA	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17714972T>C	ENST00000434762.2	+	0	826							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACTTTCTACGTTGAAGCTATA	0.532000													20	11					0	0	0.004656	0	0
SMS	6611	broad.mit.edu	37	X	21996172	21996172	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:21996172A>T	ENST00000404933.2	+	6	852	c.600A>T	c.(598-600)ggA>ggT	p.G200G	SMS_ENST00000415881.2_Silent_p.G104G|SMS_ENST00000379404.1_Silent_p.G147G	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	200					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGGAGGTGGAGACGGAGGCA	0.443000													38	25					0	0	0.006999	0	0
OR7G1	125962	broad.mit.edu	37	19	9225670	9225670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9225670C>T	ENST00000293614.1	-	1	769	c.770G>A	c.(769-771)gGg>gAg	p.G257E	OR7G1_ENST00000541538.1_Missense_Mutation_p.G257E			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AATGTACACCCCAAAAGCTGT	0.458000													40	37					0	0	0.005524	0	0
HYDIN	54768	broad.mit.edu	37	16	70954829	70954829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70954829G>A	ENST00000393567.2	-	46	7600	c.7450C>T	c.(7450-7452)Cct>Tct	p.P2484S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2484								p.P2483S(1)|p.P114S(1)|p.P2435S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCCCTGCAGGAGGCAGCTGG	0.617000													10	16					0	0	0.001368	0	0
NOD2	64127	broad.mit.edu	37	16	50745620	50745620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:50745620G>A	ENST00000300589.2	+	4	1903	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	600	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGCGCCCCTGGAATTCCTTCA	0.567000													11	30					0	0	0.000673	0	0
AP4E1	23431	broad.mit.edu	37	15	51289871	51289871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51289871G>A	ENST00000261842.5	+	18	2801	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E824K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	899					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGTTGCCAAGGAAAGCTCTTT	0.353000													8	19					0	0	0.003080	0	0
ANKRD29	147463	broad.mit.edu	37	18	21226157	21226157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:21226157C>T	ENST00000592179.1	-	3	381	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ANKRD29_ENST00000284207.7_Missense_Mutation_p.R76K|ANKRD29_ENST00000322980.9_Missense_Mutation_p.R76K	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	76										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTACCTCTCTCTGGAGATT	0.498000													14	55					0	0	0.003163	0	0
MAP3K13	9175	broad.mit.edu	37	3	185155407	185155407	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:185155407C>T	ENST00000265026.3	+	3	982	c.648C>T	c.(646-648)atC>atT	p.I216I	MAP3K13_ENST00000535426.1_Silent_p.I72I|MAP3K13_ENST00000424227.1_Silent_p.I216I|MAP3K13_ENST00000443863.1_Silent_p.I72I|MAP3K13_ENST00000446828.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	216	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCCTAACATCATCGCATTCA	0.408000													17	26					0	0	0.004990	0	0
MYH3	4621	broad.mit.edu	37	17	10543369	10543369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10543369C>T	ENST00000583535.1	-	22	2713	c.2626G>A	c.(2626-2628)Gaa>Aaa	p.E876K	MYH3_ENST00000226209.7_Missense_Mutation_p.E876K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	876					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCAGTTTTTCCTCTAGCTCC	0.428000													28	81					0	0	0.006320	0	0
BICD2	23299	broad.mit.edu	37	9	95483035	95483035	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95483035C>T	ENST00000356884.6	-	4	676	c.609G>A	c.(607-609)gtG>gtA	p.V203V	BICD2_ENST00000375512.3_Silent_p.V203V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	203					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCAAACTCCACCTGGGAAG	0.537000													18	35					0	0	0.001216	0	0
SAG	6295	broad.mit.edu	37	2	234237186	234237186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234237186C>T	ENST00000409110.1	+	8	805	c.575C>T	c.(574-576)cCc>cTc	p.P192L	SAG_ENST00000449594.2_Missense_Mutation_p.P58L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	192					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GGTCCCCAGCCCCGAGCTGAG	0.582000													27	57					0	0	0.004656	0	0
DNAH8	1769	broad.mit.edu	37	6	38917293	38917293	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38917293C>T	ENST00000359357.3	+	79	11798	c.11544C>T	c.(11542-11544)atC>atT	p.I3848I	DNAH8_ENST00000441566.1_Silent_p.I3812I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.I4065I					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						AGGAAATTATCCCTGATGGAT	0.393000													22	43					0	0	0.002299	0	0
CT47B1	643311	broad.mit.edu	37	X	120009405	120009405	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:120009405G>A	ENST00000371311.3	-	1	374	c.120C>T	c.(118-120)ccC>ccT	p.P40P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	40										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGCTGCTGTCGGGGCCGGAGT	0.741000													49	104					0	0	0.003610	0	0
APH1A	51107	broad.mit.edu	37	1	150239809	150239809	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150239809C>A	ENST00000360244.4	-	4	920	c.428G>T	c.(427-429)gGg>gTg	p.G143V	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.G73V|APH1A_ENST00000369109.3_Missense_Mutation_p.G143V	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	143					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACACCTGGCCCAAGTGCATC	0.488000													49	38					3.68337e-26	7.46368e-26	0.003610	1	0
POLD1	5424	broad.mit.edu	37	19	50905495	50905495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50905495C>T	ENST00000440232.2	+	6	676	c.623C>T	c.(622-624)cCg>cTg	p.P208L	POLD1_ENST00000595904.1_Missense_Mutation_p.P208L|POLD1_ENST00000599857.1_Missense_Mutation_p.P208L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	208					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)		GGCCCCTCCCCGTTCCTGCGC	0.701000								DNA polymerases (catalytic subunits)					21	46					0	0	0.001882	0	0
ADAD2	161931	broad.mit.edu	37	16	84229035	84229035	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84229035C>T	ENST00000268624.3	+	6	1206	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A289A|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	289	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGGTCATCGCCCGCAGGGCCC	0.667000													8	10					0	0	0.004482	0	0
OR51E2	81285	broad.mit.edu	37	11	4703796	4703796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4703796C>T	ENST00000396950.3	-	2	385	c.146G>A	c.(145-147)aGg>aAg	p.R49K		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCGTTCCGTCCTTACGATGAA	0.517000													11	33					0	0	0.001368	0	0
POMT2	29954	broad.mit.edu	37	14	77745123	77745123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77745123G>A	ENST00000261534.4	-	19	2183	c.1981C>T	c.(1981-1983)Ctc>Ttc	p.L661F		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	661					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGAAGTAGAGGACCCGGCCC	0.612000													52	69					0	0	0.003610	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558145	140558145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140558145C>T	ENST00000239444.2	+	1	775	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		177	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCCAACTCCTATTTTCGG	0.502000													18	61					0	0	0.001523	0	0
DNAH3	55567	broad.mit.edu	37	16	20974681	20974681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20974681G>A	ENST00000261383.3	-	53	10524	c.10525C>T	c.(10525-10527)Cag>Tag	p.Q3509*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3509	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGGATCCCTGGAGATCGAAC	0.507000													13	36					0	0	0.002450	0	0
OFD1	8481	broad.mit.edu	37	X	13764499	13764499	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:13764499C>T	ENST00000380567.1	+	8	1031	c.159C>T	c.(157-159)ttC>ttT	p.F53F	OFD1_ENST00000380550.3_Silent_p.F193F|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Silent_p.F193F|OFD1_ENST00000340096.6_Silent_p.F193F			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	193					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTATCAAGTTCGAATCTTTAG	0.338000													18	52					0	0	0.006122	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580627	140580627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140580627G>A	ENST00000354757.3	+	1	1280	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E	PCDHB11_ENST00000536699.1_Missense_Mutation_p.G62E	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGACTTGGGGATACCCAGG	0.507000													38	69					0	0	0.004878	0	0
MYOM2	9172	broad.mit.edu	37	8	2021502	2021502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:2021502G>A	ENST00000262113.4	+	10	1183	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	348	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCACAAGGACGACGAGGG	0.592000													28	83					0	0	0.001512	0	0
ABL1	25	broad.mit.edu	37	9	133755918	133755918	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:133755918C>T	ENST00000318560.5	+	10	1926	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	515					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AACAAGGCGTCCGTGGGGCTG	0.562000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								22	46					0	0	0.002780	0	0
RASEF	158158	broad.mit.edu	37	9	85611959	85611959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:85611959G>A	ENST00000376447.3	-	14	2148	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	630					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CGTATGTTAAGAAAGCTTTTC	0.368000													9	13					0	0	0.006214	0	0
ECE2	9718	broad.mit.edu	37	3	184008617	184008617	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:184008617C>T	ENST00000402825.3	+	16	2157	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	ECE2_ENST00000357474.5_Silent_p.G647G|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.G601G|ECE2_ENST00000359140.4_Silent_p.G572G	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	719	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGTCATGGGCCATGAGTTGA	0.587000													54	41					0	0	0.003610	0	0
C3P1	388503	broad.mit.edu	37	19	10165958	10165958	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10165958G>A	ENST00000495140.1	+	0	1586																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GAGTTCAGACGGCACCTACCA	0.597000													10	45					0	0	0.003163	0	0
PRG4	10216	broad.mit.edu	37	1	186277471	186277471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:186277471G>A	ENST00000445192.2	+	7	2665	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	PRG4_ENST00000367485.4_Missense_Mutation_p.D781N|PRG4_ENST00000367484.3_Missense_Mutation_p.D403N|PRG4_ENST00000367486.3_Missense_Mutation_p.D831N|PRG4_ENST00000367483.4_Missense_Mutation_p.D833N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	874					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAAAGCCCTGATGAATCAAC	0.507000													46	138					0	0	0.003214	0	0
BRINP3	339479	broad.mit.edu	37	1	190234038	190234038	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:190234038A>G	ENST00000367462.3	-	4	806	c.575T>C	c.(574-576)cTt>cCt	p.L192P	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L90P	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		192						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGTCTCCGAAGGGTGCTGTC	0.448000													56	74					0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10408756G>A	ENST00000226207.5	-	20	2341	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000													19	20					0	0	0.006122	0	0
ATF6B	1388	broad.mit.edu	37	6	32093908	32093908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:32093908G>A	ENST00000375201.4	-	5	500	c.455C>T	c.(454-456)tCt>tTt	p.S152F	ATF6B_ENST00000375203.3_Missense_Mutation_p.S155F|ATF6B_ENST00000468502.1_5'UTR			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	155					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGAATCATCAGAGGTGGGGAT	0.502000													101	266					0	0	0.003610	0	0
TBC1D32	221322	broad.mit.edu	37	6	121436358	121436358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:121436358G>A	ENST00000275159.6	-	28	3135	c.3136C>T	c.(3136-3138)Ctt>Ttt	p.L1046F	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.L1005F					TBC1 domain family, member 32																		ACAGATGAAAGACTTTCATTC	0.328000													14	22					0	0	0.007413	0	0
CALD1	800	broad.mit.edu	37	7	134644731	134644731	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:134644731A>G	ENST00000361388.2	+	12	1847	c.1381A>G	c.(1381-1383)Aaa>Gaa	p.K461E	CALD1_ENST00000417172.1_Missense_Mutation_p.K435E|CALD1_ENST00000361675.2_Missense_Mutation_p.K690E|CALD1_ENST00000495522.1_Missense_Mutation_p.K454E|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.K429E|CALD1_ENST00000422748.1_Missense_Mutation_p.K460E|CALD1_ENST00000543443.1_Missense_Mutation_p.K440E|CALD1_ENST00000361901.2_Missense_Mutation_p.K435E|CALD1_ENST00000393118.2_Missense_Mutation_p.K455E	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	690					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TCAGGGAACAAAAAGCGCAAA	0.403000													21	14					0	0	0.002299	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916943	42916943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:42916943C>T	ENST00000316161.4	-	1	690	c.366G>A	c.(364-366)atG>atA	p.M122I	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.M122I|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	122					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGAGTGTATCATCTCATGGT	0.478000													25	54					0	0	0.006320	0	0
GDF5	8200	broad.mit.edu	37	20	34022226	34022226	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34022226G>A	ENST00000374372.1	-	4	1490	c.987C>T	c.(985-987)ttC>ttT	p.F329F	GDF5_ENST00000374369.3_Silent_p.F329F|GDF5OS_ENST00000374375.1_Silent_p.S90S			P43026	GDF5_HUMAN	growth differentiation factor 5	329					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGGCGCGGTCGAAGCCCAGGC	0.627000													18	47					0	0	0.006122	0	0
ZFP64	55734	broad.mit.edu	37	20	50769128	50769128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:50769128G>A	ENST00000216923.4	-	6	1952	c.1603C>T	c.(1603-1605)Cca>Tca	p.P535S	ZFP64_ENST00000371515.4_Missense_Mutation_p.P533S|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.P481S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGTTCCCTGGGAGTTCCTCT	0.687000													7	46					0	0	0.003080	0	0
TEX13B	56156	broad.mit.edu	37	X	107224621	107224621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107224621G>A	ENST00000302917.1	-	3	720	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	210										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						ACCTCTGCGGGGGCAGGCCCT	0.607000													60	150					0	0	0.003610	0	0
MUC6	4588	broad.mit.edu	37	11	1017651	1017651	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1017651T>C	ENST00000421673.2	-	31	5200	c.5150A>G	c.(5149-5151)aAc>aGc	p.N1717S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1717	Approximate repeats.|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)		ACTGGTGGGGTTGGGGGTGAT	0.512000													29	803					0	0	0.007291	0	0
OR52E8	390079	broad.mit.edu	37	11	5878068	5878068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5878068G>A	ENST00000537935.1	-	1	896	c.865C>T	c.(865-867)Cca>Tca	p.P289S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCTGGTGGGACAACCACA	0.408000													31	40					0	0	0.004289	0	0
PEBP4	157310	broad.mit.edu	37	8	22582371	22582371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:22582371C>T	ENST00000256404.6	-	6	593	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	168						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		GTTTTGTTTTCCTTGGGAAGG	0.537000													35	52					0	0	0.003271	0	0
DSCAM	1826	broad.mit.edu	37	21	41559082	41559082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:41559082C>T	ENST00000400454.1	-	14	3232	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	919	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTCAATATCGTAGCCTGTG	0.413000													24	38					0	0	0.005443	0	0
MYBL1	4603	broad.mit.edu	37	8	67509630	67509630	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:67509630G>A	ENST00000522677.3	-	5	857	c.447C>T	c.(445-447)atC>atT	p.I149I	MYBL1_ENST00000524176.2_Silent_p.I149I|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	149	HTH myb-type 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CTTCATAGATGATCCTGTCCT	0.383000													8	19					0	0	0.004482	0	0
AP4S1	11154	broad.mit.edu	37	14	31542114	31542114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:31542114G>A	ENST00000216366.4	+	4	437	c.229G>A	c.(229-231)Gag>Aag	p.E77K	AP4S1_ENST00000313566.6_Missense_Mutation_p.E77K|AP4S1_ENST00000554609.1_Missense_Mutation_p.E77K|AP4S1_ENST00000554345.1_Missense_Mutation_p.E77K|AP4S1_ENST00000334725.4_Missense_Mutation_p.E77K|AP4S1_ENST00000542754.2_Missense_Mutation_p.E77K	NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	77						coated pit|Golgi apparatus	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		ATTGTAGAACGAGATGGCTAT	0.368000													14	74					0	0	0.006122	0	0
TEX15	56154	broad.mit.edu	37	8	30702396	30702396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:30702396C>T	ENST00000256246.2	-	1	4212	c.4138G>A	c.(4138-4140)Gaa>Aaa	p.E1380K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1380										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCTCTTTTTCTCTACAGCTC	0.403000													10	26					0	0	0.006214	0	0
C1orf51	148523	broad.mit.edu	37	1	150258849	150258849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150258849C>T	ENST00000290363.5	+	5	1090	c.641C>T	c.(640-642)cCa>cTa	p.P214L	C1orf51_ENST00000369094.1_Missense_Mutation_p.P126L|C1orf51_ENST00000369095.1_Missense_Mutation_p.P214L	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	214										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGCATTTTCCAAGCCACCAC	0.448000													17	128					0	0	0.007413	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949764	44949764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:44949764G>A	ENST00000291560.2	-	9	1206	c.875C>T	c.(874-876)tCg>tTg	p.S292L	HSF2BP_ENST00000542962.1_Missense_Mutation_p.S217L	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	292					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTCAGAGGCCGACTTGGAGAA	0.572000													11	37					0	0	0.002450	0	0
MARK4	57787	broad.mit.edu	37	19	45768113	45768113	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45768113A>T	ENST00000300843.4	+	6	734	c.437A>T	c.(436-438)tAc>tTc	p.Y146F	MARK4_ENST00000262891.4_Missense_Mutation_p.Y146F	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	146	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTGTTTGACTACCTCGTGTCG	0.682000													83	52					0	0	0.003610	0	0
MRAP2	112609	broad.mit.edu	37	6	84798837	84798837	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:84798837C>T	ENST00000257776.4	+	4	390	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	85					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGAAGAGATTCAGAATGAACA	0.433000													31	1					0	0	0.001786	0	0
BAHCC1	57597	broad.mit.edu	37	17	79405439	79405439	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79405439C>T	ENST00000307745.7	+	8	402	c.402C>T	c.(400-402)ttC>ttT	p.F134F																								CATCCACCTTCCTACCCGTGA	0.577000													9	13					0	0	0.000673	0	0
F9	2158	broad.mit.edu	37	X	138619207	138619207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:138619207C>T	ENST00000218099.2	+	2	134	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.R43W	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	43			R -> L (in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc.).|R -> Q (in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc.).|R -> W (in HEMB; severe; Boxtel, Heiden, Lienen, etc.).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AATTCTGAATCGGCCAAAGAG	0.318000													21	12					0	0	0.001882	0	0
MIR622	693207	broad.mit.edu	37	13	90883435	90883435	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:90883435G>A	ENST00000385123.1	+	0	0					NR_030754.1																						GGGAAGAACCGAGAGAAGCTG	0.542000													6	26					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168099266	168099266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168099266C>T	ENST00000409195.1	+	9	1453	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P233L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P455L|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	280					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						TTTCCTCCTCCCCCACCTGAC	0.448000													6	32					0	0	0.001168	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20062042	20062042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:20062042C>T	ENST00000276390.2	+	2	224	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	62					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GATCTTAGATCATGTTAAGGT	0.303000													13	59					0	0	0.001855	0	0
COL3A1	1281	broad.mit.edu	37	2	189858803	189858803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189858803G>A	ENST00000304636.3	+	17	1359	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E397K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	397	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			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)	TGGTAAAGGCGAAATGGTAAG	0.373000													10	20					0	0	0.000673	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50416866	50416866	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50416866C>T	ENST00000435965.1	-	11	1322	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	CACNA2D2_ENST00000479441.1_Silent_p.Q383Q|CACNA2D2_ENST00000429770.1_Silent_p.Q383Q|CACNA2D2_ENST00000424201.2_Silent_p.Q383Q|CACNA2D2_ENST00000423994.2_Silent_p.Q383Q|CACNA2D2_ENST00000395083.1_Silent_p.Q383Q|CACNA2D2_ENST00000360963.3_Silent_p.Q314Q|CACNA2D2_ENST00000266039.3_Silent_p.Q383Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	383	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GGCTCACGTTCTGCAGCTGGT	0.597000													7	31					0	0	0.004482	0	0
LAMB1	3912	broad.mit.edu	37	7	107600045	107600045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107600045G>A	ENST00000393560.1	-	19	2711	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	LAMB1_ENST00000222399.6_Intron|LAMB1_ENST00000393561.1_Intron			P07942	LAMB1_HUMAN	laminin, beta 1	0	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAACTTCAGGAGGGAAGCAT	0.458000													6	20					0	0	0.001168	0	0
CPN2	1370	broad.mit.edu	37	3	194062600	194062600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:194062600G>A	ENST00000323830.3	-	2	921	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CPN2_ENST00000429275.1_Missense_Mutation_p.R278W	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	278					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGCAGGACCCGAAGCATGTTC	0.612000													27	32					0	0	0.004656	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587113	15587113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15587113G>A	ENST00000292609.4	-	2	497	c.368C>T	c.(367-369)cCt>cTt	p.P123L	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P123L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	123					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGCCAGCAGAGGCTCCACAGC	0.612000													68	93					0	0	0.003610	0	0
TICRR	90381	broad.mit.edu	37	15	90126082	90126082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:90126082C>T	ENST00000268138.7	+	2	925	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	TICRR_ENST00000560985.1_Missense_Mutation_p.P274S|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		TCATCTTTCTCCGTGGATTTC	0.453000													56	72					0	0	0.003610	0	0
UBR5	51366	broad.mit.edu	37	8	103323563	103323563	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:103323563G>A	ENST00000520539.1	-	20	3186	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	UBR5_ENST00000521922.1_Silent_p.I854I|UBR5_ENST00000220959.4_Silent_p.I860I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	860					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTCTTTTTGATTGTTGAAT	0.378000													59	57					0	0	0.003610	0	0
OR4B1	119765	broad.mit.edu	37	11	48239195	48239195	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:48239195C>T	ENST00000309562.2	+	1	852	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCATCACCCCCATGCTGAACC	0.443000													8	24					0	0	0.004482	0	0
CREBRF	153222	broad.mit.edu	37	5	172517806	172517806	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:172517806T>C	ENST00000540014.1	+	4	943	c.624T>C	c.(622-624)acT>acC	p.T208T	CREBRF_ENST00000296953.2_Silent_p.T208T|CREBRF_ENST00000520420.1_Silent_p.T208T|CREBRF_ENST00000522692.1_Silent_p.T208T			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	208							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GTAAACCCACTTCAAGCACAC	0.403000													9	18					0	0	0.000673	0	0
MUC7	4589	broad.mit.edu	37	4	71347351	71347351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71347351C>T	ENST00000413702.1	+	4	1178	c.890C>T	c.(889-891)tCc>tTc	p.S297F	MUC7_ENST00000304887.5_Missense_Mutation_p.S297F|MUC7_ENST00000456088.1_Missense_Mutation_p.S297F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	297	Thr-rich.					extracellular region	protein binding	p.S297Y(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCGTCTTCCCCAGCTCCA	0.557000													9	12					0	0	0.000978	0	0
CEP350	9857	broad.mit.edu	37	1	180056805	180056805	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:180056805C>T	ENST00000367607.3	+	32	6796	c.6378C>T	c.(6376-6378)tcC>tcT	p.S2126S	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2126						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAACGCTCTCCTCAGCTTCTG	0.378000													14	8					0	0	0.006122	0	0
EPHA10	284656	broad.mit.edu	37	1	38227386	38227386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38227386C>T	ENST00000373048.4	-	3	540	c.541G>A	c.(541-543)Gga>Aga	p.G181R	EPHA10_ENST00000319637.6_Missense_Mutation_p.G181R|EPHA10_ENST00000427468.2_Missense_Mutation_p.G181R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	181						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGAGCGGTCCGATCTCGCGC	0.662000													26	30					0	0	0.007291	0	0
FBN1	2200	broad.mit.edu	37	15	48744865	48744865	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:48744865C>T	ENST00000316623.5	-	45	5894	c.5439G>A	c.(5437-5439)caG>caA	p.Q1813Q		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1813	EGF-like 30; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGGCCGTTCTGACACTCGT	0.502000													13	38					0	0	0.001368	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916509	7916509	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:7916509C>T	ENST00000254854.4	+	11	2352	c.2202C>T	c.(2200-2202)atC>atT	p.I734I		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	734	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCTTGGCCATCATCATGCAAG	0.657000													19	38					0	0	0.001523	0	0
RP11-375N15.2	0	broad.mit.edu	37	8	9413391	9413391	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:9413391G>A	ENST00000607598.1	-	0	639																											CCGACAGTCGGAAGTGAGGGC	0.607000													17	39					0	0	0.004990	0	0
RBBP8	5932	broad.mit.edu	37	18	20572875	20572875	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:20572875T>A	ENST00000399722.2	+	11	1436	c.1085T>A	c.(1084-1086)cTc>cAc	p.L362H	RBBP8_ENST00000360790.5_Missense_Mutation_p.L362H|RBBP8_ENST00000399725.2_Missense_Mutation_p.L362H|RBBP8_ENST00000327155.5_Missense_Mutation_p.L362H	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	362					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGAAAACACTCCCTTTTAGC	0.363000								Homologous recombination					38	55					0	0	0.005524	0	0
CLCN1	1180	broad.mit.edu	37	7	143036616	143036616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143036616G>A	ENST00000343257.2	+	14	1571	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	495					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.G495K(1)		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)					GCTGCATTTGGAAGGCTGGTA	0.443000													19	69					0	0	0.001882	0	0
TRPC6	7225	broad.mit.edu	37	11	101323741	101323741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:101323741C>T	ENST00000344327.3	-	13	3165	c.2741G>A	c.(2740-2742)aGa>aAa	p.R914K	TRPC6_ENST00000360497.4_Missense_Mutation_p.R859K|TRPC6_ENST00000532133.1_Missense_Mutation_p.R836K|TRPC6_ENST00000348423.4_Missense_Mutation_p.R798K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	914					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCAAGTTCTCTAATAAGTTC	0.368000													5	14					0	0	0.000602	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4491791C>T	ENST00000301284.4	+	6	701	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R213W	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGCAGCGGTCCGGGCGCCACG	0.627000													79	93					0	0	0.003610	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197488	8197488	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8197488C>T	ENST00000162391.3	+	6	1896	c.751C>T	c.(751-753)Cta>Tta	p.L251L	FOXJ2_ENST00000428177.2_Silent_p.L251L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	251					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTTTCAGGATCTAAGCTGGTC	0.527000													73	162					0	0	0.003610	0	0
CCDC9	26093	broad.mit.edu	37	19	47763960	47763960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:47763960C>T	ENST00000221922.6	+	5	548	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	109	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGAGCATCGCGCAGCTGG	0.761000													5	13					0	0	0.001168	0	0
OTOF	9381	broad.mit.edu	37	2	26698339	26698339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:26698339G>A	ENST00000272371.2	-	25	3140	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L	OTOF_ENST00000338581.6_Missense_Mutation_p.P258L|OTOF_ENST00000402415.3_Missense_Mutation_p.P315L|OTOF_ENST00000339598.3_Missense_Mutation_p.P258L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1005L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1005	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCAGGTGGGACACAGGGT	0.557000													25	50					0	0	0.003330	0	0
SLU7	10569	broad.mit.edu	37	5	159834579	159834579	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:159834579T>A	ENST00000297151.4	-	11	1416	c.1029A>T	c.(1027-1029)ctA>ctT	p.L343L		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	343					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCTGCCTGTAGATGCACTT	0.398000													11	34					0	0	0.000978	0	0
FMO2	2327	broad.mit.edu	37	1	171174595	171174595	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:171174595T>C	ENST00000441535.1	+	7	1122	c.1005T>C	c.(1003-1005)ttT>ttC	p.F335F	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Silent_p.F335F|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	335					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTTCTCTTTTCCCTTCCTTG	0.418000													8	3					0	0	0.004482	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162407	142162407	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142162407G>A	ENST00000390371.3	-	0	0																											TCTGTGCATTGATGAAAGGGG	0.592000													3	6					0	0	0.004672	0	0
MUSK	4593	broad.mit.edu	37	9	113563219	113563219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:113563219G>A	ENST00000416899.2	+	13	2663	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	MUSK_ENST00000189978.5_Missense_Mutation_p.R854Q|MUSK_ENST00000374448.4_Missense_Mutation_p.R854Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	854	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTATTCACCGAATTCTGGAA	0.507000													12	17					0	0	0.001855	0	0
CACNA1A	773	broad.mit.edu	37	19	13365996	13365996	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13365996G>A	ENST00000360228.5	-	29	4667	c.4668C>T	c.(4666-4668)taC>taT	p.Y1556Y	CACNA1A_ENST00000573710.2_Silent_p.Y1557Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1557					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCCACATGCGGTACTGGAAGC	0.582000													11	35					0	0	0.001368	0	0
GPR20	2843	broad.mit.edu	37	8	142367077	142367077	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142367077C>A	ENST00000377741.3	-	2	1037	c.947G>T	c.(946-948)gGa>gTa	p.G316V		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	316						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CTCACGCTCTCCGTGCTGGCC	0.652000													20	91					1.50039e-11	3.01908e-11	0.001882	1	0
LRP1	4035	broad.mit.edu	37	12	57601895	57601895	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57601895C>T	ENST00000243077.3	+	77	12400	c.11934C>T	c.(11932-11934)ggC>ggT	p.G3978G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3978					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGACTCGGGCCGAGATGTGA	0.597000													38	15					0	0	0.001951	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70417114	70417114	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70417114G>A	ENST00000393640.4	-	4	2845	c.738C>T	c.(736-738)ttC>ttT	p.F246F	ST3GAL2_ENST00000342907.2_Silent_p.F246F|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	246					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCACTCGAAGGAAGGACTTCA	0.527000													32	54					0	0	0.004878	0	0
YY2	404281	broad.mit.edu	37	X	21875652	21875652	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:21875652G>A	ENST00000429584.2	+	1	1548	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	350	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTTGCAACAGGAAGTTCGCTC	0.498000													119	367					0	0	0.003610	0	0
RAI2	10742	broad.mit.edu	37	X	17819282	17819282	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:17819282C>T	ENST00000545871.1	-	3	1309	c.849G>A	c.(847-849)ctG>ctA	p.L283L	RAI2_ENST00000451717.1_Silent_p.L283L|RAI2_ENST00000360011.1_Silent_p.L283L|RAI2_ENST00000415486.3_Silent_p.L233L|RAI2_ENST00000331511.1_Silent_p.L283L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	283					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATCTTTTTCCAGAGGGGTCT	0.542000													71	177					0	0	0.003610	0	0
MED25	81857	broad.mit.edu	37	19	50333429	50333429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50333429C>T	ENST00000312865.6	+	7	826	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	258	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCACTCTCTCAGCAGCCCCC	0.677000													9	21					0	0	0.004482	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123732	12123732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:12123732C>T	ENST00000379388.2	+	4	4036	c.3704C>T	c.(3703-3705)cCa>cTa	p.P1235L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1235					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCCAAGTTCCAGAGATTTTG	0.488000													5	20					0	0	0.001168	0	0
TTC13	79573	broad.mit.edu	37	1	231044745	231044745	+	Silent	SNP	G	G	A	rs150613941		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:231044745G>A	ENST00000366661.4	-	21	2338	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	TTC13_ENST00000414259.1_Silent_p.I724I|TTC13_ENST00000366662.4_Silent_p.I723I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	777							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GTGCTCCCACGATGACCGAGT	0.418000													61	160					0	0	0.003610	0	0
QTRT1	81890	broad.mit.edu	37	19	10823850	10823850	+	Silent	SNP	C	C	T	rs139740339	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10823850C>T	ENST00000250237.5	+	10	1126	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	372					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TCCCGGACTTCGTGCGGGACT	0.657000													25	102					0	0	0.001512	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400739	11400739	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:11400739G>A	ENST00000002596.5	-	2	2065	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	297						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAACAAGCTCGAAGAACTTCT	0.443000													48	69					0	0	0.003610	0	0
EPHA10	284656	broad.mit.edu	37	1	38181575	38181575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38181575G>A	ENST00000330210.7	-	14	1914	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_3'UTR			Q5JZY3	EPHAA_HUMAN	EPH receptor A10	0	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTGTCCTCGAGGAAGGGGG	0.512000													29	3					0	0	0.001786	0	0
TRPM6	140803	broad.mit.edu	37	9	77376623	77376623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:77376623G>A	ENST00000451710.3	-	27	5011	c.4774C>T	c.(4774-4776)Ctc>Ttc	p.L1592F	TRPM6_ENST00000449912.2_Missense_Mutation_p.L1587F|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1592F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1592F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1587F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1592					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCACCTGGAGTCCTTGAGTA	0.413000													16	7					0	0	0.004007	0	0
FEM1A	55527	broad.mit.edu	37	19	4793790	4793790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4793790C>T	ENST00000269856.3	+	1	2063	c.1924C>T	c.(1924-1926)Ctt>Ttt	p.L642F	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	642					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCTGCAGTGCCTTGCGGCCCG	0.597000													13	20					0	0	0.002450	0	0
VPS13B	157680	broad.mit.edu	37	8	100847425	100847425	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:100847425G>A	ENST00000358544.2	+	53	9801	c.9689_splice	c.e53-1	p.R3230_splice	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Splice_Site_p.R3205_splice	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3230					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTCTTCCAGGGCTATAGTGC	0.383000													9	28					0	0	0.000673	0	0
UNC79	57578	broad.mit.edu	37	14	94109963	94109963	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94109963C>T	ENST00000553484.1	+	36	6301	c.6147C>T	c.(6145-6147)atC>atT	p.I2049I	UNC79_ENST00000256339.4_Silent_p.I1850I|UNC79_ENST00000555664.1_Silent_p.I1988I|UNC79_ENST00000393151.2_Silent_p.I2027I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2027						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						GGCTAGCCATCGTGGTCCTCT	0.488000													25	41					0	0	0.003954	0	0
ZNF41	7592	broad.mit.edu	37	X	47308281	47308281	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47308281T>A	ENST00000377065.4	-	5	1527	c.888A>T	c.(886-888)gaA>gaT	p.E296D	ZNF41_ENST00000397050.2_Missense_Mutation_p.E306D|ZNF41_ENST00000313116.7_Missense_Mutation_p.E296D	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACGGGACTTTTCTCCAGCAT	0.418000													41	32					0	0	0.002222	0	0
RNF112	7732	broad.mit.edu	37	17	19317456	19317456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:19317456G>A	ENST00000461366.1	+	7	1089	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	292							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGACTATCTGGAGGTAAAGAG	0.562000													18	46					0	0	0.001216	0	0
MGRN1	23295	broad.mit.edu	37	16	4723500	4723500	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4723500C>T	ENST00000399577.5	+	10	890	c.795_splice	c.e10-1	p.P266_splice	MGRN1_ENST00000586183.1_Splice_Site_p.P266_splice|MGRN1_ENST00000262370.7_Splice_Site_p.P266_splice|MGRN1_ENST00000588994.1_Splice_Site_p.P266_splice|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000415496.1_Splice_Site_p.P267_splice	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	266					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCCGGCAGCCCTCGGACGAC	0.652000													69	171					0	0	0.003610	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226220	79226220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79226220G>A	ENST00000374759.3	-	13	2103	c.1720C>T	c.(1720-1722)Cct>Tct	p.P574S	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P574S	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	574					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGATCTTCAGGAAGATCACCC	0.622000													30	59					0	0	0.002096	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23692317	23692317	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:23692317T>C	ENST00000567107.1	-	1	64	c.12A>G	c.(10-12)caA>caG	p.Q4Q	GOLGA6L2_ENST00000312015.5_Silent_p.Q4Q|GOLGA6L2_ENST00000345070.5_5'UTR					golgin A6 family-like 2											breast(1)|endometrium(7)	8						GGAGGTGGGGTTGGGGCCACA	0.547000													4	20					0	0	0.000248	0	0
DLEC1	9940	broad.mit.edu	37	3	38163998	38163998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38163998G>A	ENST00000346219.3	+	36	5260	c.5239G>A	c.(5239-5241)Ggg>Agg	p.G1747R	DLEC1_ENST00000308059.6_3'UTR|DLEC1_ENST00000452631.2_3'UTR	NM_007337.2	NP_031363.2	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	0					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CACAGACTTGGGGACCTGGGG	0.577000													12	26					0	0	0.001855	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712086	121712086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:121712086G>A	ENST00000324774.5	-	2	1072	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	CAMKK2_ENST00000347034.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P82S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P82S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P82S|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P82S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	82					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCAAGGGGGACCTCTTGG	0.697000													115	234					0	0	0.003610	0	0
RAB27B	5874	broad.mit.edu	37	18	52555245	52555245	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:52555245T>C	ENST00000262094.5	+	5	884	c.363T>C	c.(361-363)gcT>gcC	p.A121A	RAB27B_ENST00000586594.1_3'UTR|RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	121					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AAGCAAATGCTTATTGTGAAA	0.408000													4	9					0	0	0.000248	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185606818	185606818	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:185606818C>T	ENST00000314970.6	+	11	1708	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC111_ENST00000515774.1_Silent_p.A296A|CCDC111_ENST00000512834.1_Silent_p.A424A|CCDC111_ENST00000503752.1_Silent_p.A425A	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		425					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTGGAAGAGCCCATAAGAGTA	0.269000													21	18					0	0	0.002299	0	0
SYT7	9066	broad.mit.edu	37	11	61290646	61290646	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:61290646G>A	ENST00000263846.4	-	8	1335	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	SYT7_ENST00000540677.1_Silent_p.S411S|SYT7_ENST00000542836.1_Silent_p.S380S|SYT7_ENST00000542670.1_Silent_p.S544S|SYT7_ENST00000539008.1_Silent_p.S619S|SYT7_ENST00000535826.1_Silent_p.S455S	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	336	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGAAGGCGAAGGACTCATTGA	0.532000													92	54					0	0	0.003610	0	0
OR13C8	138802	broad.mit.edu	37	9	107331863	107331863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:107331863G>A	ENST00000335040.1	+	1	415	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CATGAGCAAGGGTGCCTATGT	0.547000													21	42					0	0	0.001882	0	0
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	G	A	rs2320234	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124252919G>A	ENST00000375013.2	-	1	339	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACGAAAAAGAGAA	0.398000													4	6					0	0	0.000602	0	0
SSTR2	6752	broad.mit.edu	37	17	71165805	71165805	+	Missense_Mutation	SNP	G	G	A	rs144660860		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:71165805G>A	ENST00000357585.2	+	2	716	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	SSTR2_ENST00000315332.2_Missense_Mutation_p.R116Q|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	116					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATTTGCCGGGTGGTCATG	0.562000													35	29					0	0	0.004878	0	0
CNGB3	54714	broad.mit.edu	37	8	87655992	87655992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:87655992C>T	ENST00000320005.5	-	10	1212	c.1165G>A	c.(1165-1167)Ggg>Agg	p.G389R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	389					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTCCTTCCCCATCATACACC	0.343000													4	23					0	0	0.001168	0	0
TARS	6897	broad.mit.edu	37	5	33455743	33455743	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:33455743C>T	ENST00000265112.3	+	6	938	c.627C>T	c.(625-627)atC>atT	p.I209I	TARS_ENST00000541634.1_Silent_p.I105I|TARS_ENST00000455217.2_Silent_p.I242I|TARS_ENST00000414361.2_Silent_p.I88I|TARS_ENST00000502553.1_Silent_p.I209I	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	209					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTAAGAAAATCATTAAAGAAA	0.373000													20	18					0	0	0.001216	0	0
CFAP54	144535	broad.mit.edu	37	12	97147570	97147570	+	Silent	SNP	C	C	T	rs139695098		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:97147570C>T	ENST00000524981.3	+	23	3087	c.3087C>T	c.(3085-3087)ccC>ccT	p.P1029P				Q6ZTY8	CL063_HUMAN		1003										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGAAGGACCCCTCGAAGTGGT	0.423000													5	11					0	0	0.000602	0	0
ABAT	18	broad.mit.edu	37	16	8873393	8873393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:8873393G>A	ENST00000396600.2	+	15	2265	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	ABAT_ENST00000567812.1_Missense_Mutation_p.D458N|ABAT_ENST00000268251.8_Missense_Mutation_p.D443N|ABAT_ENST00000569156.1_Missense_Mutation_p.D443N|ABAT_ENST00000425191.2_Missense_Mutation_p.D443N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	443					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGCTCCTTCGATACTCCCGA	0.522000													30	29					0	0	0.004878	0	0
FAM45B	55855	broad.mit.edu	37	X	129629963	129629963	+	RNA	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129629963A>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AACTGCACAAAGAAATGGGTC	0.433000													58	143					0	0	0.003610	0	0
LILRB2	10288	broad.mit.edu	37	19	54782682	54782682	+	Missense_Mutation	SNP	C	C	T	rs41308752	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54782682C>T	ENST00000391748.1	-	6	1067	c.940G>A	c.(940-942)Gac>Aac	p.D314N	LILRB2_ENST00000434421.1_Missense_Mutation_p.D198N|LILRB2_ENST00000391749.4_Missense_Mutation_p.D314N|LILRB2_ENST00000391746.1_Missense_Mutation_p.D314N|LILRB2_ENST00000314446.5_Missense_Mutation_p.D314N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	314	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCAGGATGTCCAGGGGGTCG	0.637000													7	34					0	0	0.003080	0	0
UTP20	27340	broad.mit.edu	37	12	101759317	101759317	+	Silent	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:101759317A>C	ENST00000261637.4	+	46	6213	c.6039A>C	c.(6037-6039)gtA>gtC	p.V2013V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2013					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GATTAATTGTAAATCAGGAAA	0.358000													27	5					0	0	0.004656	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684064	3684064	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:3684064G>A	ENST00000344754.4	-	5	1007	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SIGLEC1_ENST00000202578.4_Silent_p.I336I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	336	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGTTCTCCAGGATGGGACCTG	0.597000													17	63					0	0	0.007413	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650836	232650836	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:232650836G>T	ENST00000366630.1	-	2	608	c.250C>A	c.(250-252)Cct>Act	p.P84T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P84T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	84					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTTTAGGAGGCCATTCAGAC	0.517000													19	62					2.32416e-17	4.69794e-17	0.002299	1	0
SYNE1	23345	broad.mit.edu	37	6	152771870	152771870	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:152771870C>T	ENST00000367255.5	-	27	3886	c.3285G>A	c.(3283-3285)agG>agA	p.R1095R	SYNE1_ENST00000367248.3_Silent_p.R1085R|SYNE1_ENST00000367253.4_Silent_p.R1095R|SYNE1_ENST00000265368.4_Silent_p.R1095R|SYNE1_ENST00000448038.1_Silent_p.R1102R|SYNE1_ENST00000423061.1_Silent_p.R1102R|SYNE1_ENST00000413186.2_Silent_p.R1095R|SYNE1_ENST00000341594.5_Silent_p.R1161R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1095					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)		CAGGTGTGTCCCTTACTGGGT	0.507000										HNSCC(10;0.0054)			118	9					0	0	0.003610	0	0
IFT140	9742	broad.mit.edu	37	16	1633346	1633346	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1633346G>A	ENST00000426508.2	-	12	1764	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	467										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGAAAGCTCGAAGATCGCCA	0.552000													29	40					0	0	0.004878	0	0
SHROOM2	357	broad.mit.edu	37	X	9907268	9907268	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:9907268C>T	ENST00000380913.3	+	8	4263	c.4173C>T	c.(4171-4173)tcC>tcT	p.S1391S	SHROOM2_ENST00000418909.2_Silent_p.S226S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1391	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGGCCGTGTCCCTGGCCACCA	0.607000													6	19					0	0	0.001984	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111665	186111665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:186111665G>A	ENST00000458385.2	-	2	805	c.686C>T	c.(685-687)tCg>tTg	p.S229L	KIAA1430_ENST00000514798.1_Missense_Mutation_p.S229L|KIAA1430_ENST00000296775.6_Missense_Mutation_p.S229L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	229	Ser-rich.							p.S229L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGTTTCTGTCGATTTTATTCC	0.418000													19	14					0	0	0.001882	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256044	79256044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79256044G>A	ENST00000374759.3	-	5	829	c.446C>T	c.(445-447)tCc>tTc	p.S149F	SLC38A10_ENST00000288439.5_Missense_Mutation_p.S149F	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	149					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGACTGGATGGAGGCCATCAT	0.647000													14	51					0	0	0.002450	0	0
PGBD4	161779	broad.mit.edu	37	15	34395113	34395113	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:34395113A>C	ENST00000397766.2	+	1	840	c.381A>C	c.(379-381)caA>caC	p.Q127H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	127										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAAATGCCCAAGCTGCCTTGT	0.408000													55	64					0	0	0.003610	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474151	44474151	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:44474151T>C	ENST00000372310.3	-	5	629	c.464A>G	c.(463-465)gAc>gGc	p.D155G	SLC6A9_ENST00000360584.2_Missense_Mutation_p.D228G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	228						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCGGCGCAGTCATGCGTGTT	0.592000													30	50					0	0	0.004878	0	0
NUP210L	91181	broad.mit.edu	37	1	154002460	154002460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:154002460C>T	ENST00000368559.3	-	28	3838	c.3767G>A	c.(3766-3768)aGt>aAt	p.S1256N	NUP210L_ENST00000368553.1_Missense_Mutation_p.S189N|NUP210L_ENST00000271854.3_Missense_Mutation_p.S1256N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1256						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACCTTGATACTGGTCCTGCC	0.443000													27	37					0	0	0.006320	0	0
VRK3	51231	broad.mit.edu	37	19	50491728	50491728	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50491728A>T	ENST00000599538.1	-	12	1782	c.1118T>A	c.(1117-1119)cTc>cAc	p.L373H	VRK3_ENST00000601912.1_Missense_Mutation_p.L323H|VRK3_ENST00000594948.1_Missense_Mutation_p.L373H|VRK3_ENST00000601341.1_Missense_Mutation_p.L323H|VRK3_ENST00000594092.1_Missense_Mutation_p.L373H|VRK3_ENST00000377011.2_Missense_Mutation_p.L323H|VRK3_ENST00000593919.1_Missense_Mutation_p.L373H|VRK3_ENST00000316763.3_Missense_Mutation_p.L373H|VRK3_ENST00000443401.2_Missense_Mutation_p.L142H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	373	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CAGGCTCTGGAGGTCGCTGCG	0.587000													43	33					0	0	0.003214	0	0
GLI2	2736	broad.mit.edu	37	2	121747440	121747440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:121747440C>T	ENST00000452319.1	+	14	4010	c.3950C>T	c.(3949-3951)cCa>cTa	p.P1317L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1317L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1317					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCACCTCACCCAGTCCAGAGC	0.657000													5	28					0	0	0.001984	0	0
NADSYN1	55191	broad.mit.edu	37	11	71189504	71189504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:71189504C>T	ENST00000319023.2	+	10	1050	c.862C>T	c.(862-864)Cga>Tga	p.R288*	NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.R28*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	288	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577000													5	23					0	0	0.001168	0	0
SCN10A	6336	broad.mit.edu	37	3	38768242	38768242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38768242C>T	ENST00000449082.2	-	16	2941	c.2942G>A	c.(2941-2943)aGg>aAg	p.R981K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	981					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGCTCATCCCTGGGGCCTCT	0.572000													12	26					0	0	0.001368	0	0
DMD	1756	broad.mit.edu	37	X	32536166	32536166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:32536166G>A	ENST00000357033.4	-	18	2457	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	DMD_ENST00000378677.2_Missense_Mutation_p.R747W|DMD_ENST00000288447.4_Missense_Mutation_p.R743W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	751					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTTCCTTCCGAAAGATTGCA	0.373000													14	39					0	0	0.002450	0	0
MAD1L1	8379	broad.mit.edu	37	7	2054255	2054255	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:2054255A>G	ENST00000406869.1	-	13	1798	c.1241T>C	c.(1240-1242)aTc>aCc	p.I414T	MAD1L1_ENST00000399654.2_Missense_Mutation_p.I414T|MAD1L1_ENST00000265854.7_Missense_Mutation_p.I414T|MAD1L1_ENST00000402746.1_Missense_Mutation_p.I322T			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	414	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GGACCCCAGGATGGCCCGCAT	0.662000													18	21					0	0	0.001216	0	0
OR6K3	391114	broad.mit.edu	37	1	158687360	158687360	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158687360G>A	ENST00000368146.1	-	1	593	c.594C>T	c.(592-594)gtC>gtT	p.V198V	OR6K3_ENST00000368145.1_Silent_p.V182V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTAGCACAGGGACCAAGTCAC	0.483000													10	13					0	0	0.000673	0	0
COL11A1	1301	broad.mit.edu	37	1	103352591	103352591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:103352591G>A	ENST00000358392.2	-	63	4983	c.4666C>T	c.(4666-4668)Cag>Tag	p.Q1556*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1505*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1428*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1544*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1544	Nonhelical region (C-terminal).				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)		GGTAAAGGCTGAATGACTTCA	0.368000													14	12					0	0	0.001523	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125836898	125836898	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:125836898C>T	ENST00000393434.2	-	17	2281	c.1932G>A	c.(1930-1932)agG>agA	p.R644R	ALDH1L1_ENST00000452905.2_Silent_p.R543R|ALDH1L1_ENST00000273450.3_Silent_p.R654R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.R644R	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	644	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCCGATTTTCCTCACATCAG	0.647000													7	41					0	0	0.004482	0	0
GPR116	221395	broad.mit.edu	37	6	46849828	46849828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:46849828C>T	ENST00000283296.7	-	7	917	c.629G>A	c.(628-630)gGa>gAa	p.G210E	GPR116_ENST00000265417.7_Missense_Mutation_p.G210E|GPR116_ENST00000456426.2_Missense_Mutation_p.G210E|GPR116_ENST00000362015.4_Missense_Mutation_p.G210E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	210	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGGTAAAATTCCGTAACCCTT	0.373000													13	25					0	0	0.002450	0	0
CDC27	996	broad.mit.edu	37	17	45234304	45234304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:45234304C>T	ENST00000066544.3	-	7	910	c.817G>A	c.(817-819)Gca>Aca	p.A273T	CDC27_ENST00000531206.1_Missense_Mutation_p.A273T|CDC27_ENST00000446365.2_Missense_Mutation_p.A212T|CDC27_ENST00000527547.1_Missense_Mutation_p.A273T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTAAGAGCTGCTGGTCCTCCT	0.358000													8	70					0	0	0.003080	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923946	13923946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13923946C>T	ENST00000254323.2	+	6	1337	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P100L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	383							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TTCGACGGCCCCAGCCTGCAG	0.612000													4	37					0	0	0.000602	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579239	35579239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:35579239G>A	ENST00000373330.1	+	11	1982	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R603Q			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	603						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.R603Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAACATTTCGACTTATGAAT	0.318000													29	28					0	0	0.006320	0	0
CYBB	1536	broad.mit.edu	37	X	37641431	37641431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:37641431C>T	ENST00000378588.4	+	2	203	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	46					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AAGAAAACTTCTTGGGGTAAG	0.383000													4	8					0	0	0.000248	0	0
DMXL2	23312	broad.mit.edu	37	15	51742477	51742477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51742477G>A	ENST00000251076.5	-	42	9037	c.8750C>T	c.(8749-8751)tCg>tTg	p.S2917L	DMXL2_ENST00000449909.3_Missense_Mutation_p.S2281L|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2918L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2917						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCTACCCCCCGAGATTAGGAG	0.488000													46	51					0	0	0.003610	0	0
PTOV1	53635	broad.mit.edu	37	19	50357780	50357780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50357780G>A	ENST00000391842.1	+	2	459	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	PTOV1_ENST00000601675.1_Missense_Mutation_p.G97S|PTOV1_ENST00000221557.9_Missense_Mutation_p.G65S|PTOV1_ENST00000601638.1_Missense_Mutation_p.G65S|PTOV1_ENST00000598325.1_3'UTR|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.G65S|PTOV1_ENST00000599732.1_Missense_Mutation_p.G97S	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCTTGGAGCGGCGTCCTCGA	0.687000													41	27					0	0	0.002222	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564529	33564529	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:33564529C>T	ENST00000321505.4	+	1	709	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	KIAA1549L_ENST00000265654.5_Silent_p.L177L|KIAA1549L_ENST00000389726.3_Silent_p.L177L					KIAA1549-like																		GGTGCCTTCTCTGCATATCAC	0.537000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	89	60					0	0	0.003610	0	0
RUNX1T1	862	broad.mit.edu	37	8	93088212	93088212	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:93088212C>A	ENST00000523629.1	-	2	523	c.69G>T	c.(67-69)ggG>ggT	p.G23G	RUNX1T1_ENST00000265814.3_Silent_p.G23G|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000518844.1_5'UTR|RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000522163.1_5'UTR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	23					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATTCAAAGTTCCCTTTTTTCC	0.333000													14	67					4.14922e-12	8.35777e-12	0.004007	1	0
CD300LB	124599	broad.mit.edu	37	17	72522185	72522185	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72522185C>T	ENST00000392621.1	-	2	187	c.183G>A	c.(181-183)gtG>gtA	p.V61V	CD300LB_ENST00000314401.3_Silent_p.V61V	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	24	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CTGGGGCTCTCACAGACTCTG	0.567000													35	58					0	0	0.005524	0	0
RPS3A	6189	broad.mit.edu	37	4	152024151	152024151	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:152024151C>T	ENST00000322686.6	+	5	468	c.444C>T	c.(442-444)gtC>gtT	p.V148V	RPS3A_ENST00000514682.1_Silent_p.V124V|RPS3A_ENST00000512690.1_Silent_p.V161V|RPS3A_ENST00000509736.1_Silent_p.V42V|RPS3A_ENST00000506126.1_Silent_p.V124V|RPS3A_ENST00000274065.4_Silent_p.V161V			P61247	RS3A_HUMAN	ribosomal protein S3A	161					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					ACCAACAGGTCCGCCAAATCC	0.428000													9	14					0	0	0.006214	0	0
METTL18	92342	broad.mit.edu	37	1	169762312	169762312	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169762312G>A	ENST00000310392.4	-	2	878	c.525C>T	c.(523-525)ctC>ctT	p.L175L	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Silent_p.L175L	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	175						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						AATAAGCCAGGAGGTCAAAGG	0.398000													33	34					0	0	0.002096	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466767	78466767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:78466767C>T	ENST00000258873.4	-	12	2007	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E	ACSBG1_ENST00000541759.1_Missense_Mutation_p.G359E|ACSBG1_ENST00000560817.1_Missense_Mutation_p.G359E	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	601					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTCTGGTCCCCAATGAGCAT	0.592000													22	64					0	0	0.002780	0	0
COL4A4	1286	broad.mit.edu	37	2	227915728	227915728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:227915728C>T	ENST00000396625.3	-	33	3322	c.3115G>A	c.(3115-3117)Ggg>Agg	p.G1039R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1039R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1039	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAATGAACCCTCTTAGACCA	0.532000													14	42					0	0	0.001216	0	0
C2orf62	375307	broad.mit.edu	37	2	219232608	219232608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219232608C>T	ENST00000289388.3	+	10	1114	c.1085C>T	c.(1084-1086)cCg>cTg	p.P362L	C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	362										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCGTCACCGGCCTTGGGC	0.726000													19	42					0	0	0.001882	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129042	248129042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248129042C>T	ENST00000366480.3	+	1	508	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTTATGATCGCTATGTAGC	0.438000													55	72					0	0	0.003610	0	0
HOXB1	3211	broad.mit.edu	37	17	46607987	46607987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:46607987C>T	ENST00000239174.6	-	1	372	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	HOXB1_ENST00000577092.1_Missense_Mutation_p.G94R	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	94						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAGAAGGCCCGTAGCTGGGG	0.662000													25	77					0	0	0.006320	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713747	142713747	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:142713747C>T	ENST00000369381.2	-	0	858																											TTTTAACGTCCTTAAGATATT	0.303000													7	7					0	0	0.003080	0	0
NAT6	24142	broad.mit.edu	37	3	50334541	50334541	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50334541G>A	ENST00000443842.1	-	2	1161	c.354C>T	c.(352-354)ccC>ccT	p.P118P	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000443094.2_Silent_p.P118P|NAT6_ENST00000354862.4_Silent_p.P140P|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Silent_p.P118P|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCACCACAACGGGTGCTGCTT	0.682000													24	12					0	0	0.003330	0	0
PABPC3	5042	broad.mit.edu	37	13	25671427	25671427	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:25671427A>T	ENST00000281589.3	+	1	1128	c.1091A>T	c.(1090-1092)tAt>tTt	p.Y364F		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	364	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGCCATTGTATGTAGCTTTA	0.483000													94	48					0	0	0.003610	0	0
KMT2C	58508	broad.mit.edu	37	7	151851430	151851430	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151851430G>A	ENST00000355193.2	-	48	12450	c.12232C>T	c.(12232-12234)Ctg>Ttg	p.L4078L	KMT2C_ENST00000262189.6_Silent_p.L4021L|KMT2C_ENST00000485241.1_5'UTR					lysine (K)-specific methyltransferase 2C																		ACCAATGACAGATCTGGATAC	0.493000													22	81					0	0	0.003330	0	0
ADAP2	55803	broad.mit.edu	37	17	29283463	29283463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:29283463C>T	ENST00000330889.3	+	10	1422	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Missense_Mutation_p.P369S	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	363					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTGTCCAGCCCCTTGACGCC	0.532000													5	14					0	0	0.001984	0	0
EPB41L2	2037	broad.mit.edu	37	6	131220710	131220710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:131220710G>A	ENST00000337057.3	-	8	1338	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	EPB41L2_ENST00000445890.2_Missense_Mutation_p.S386L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S386L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S386L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S386L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	386	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTGTGCTGGCGATAAGCCCCT	0.433000													13	0					0	0	0.001368	0	0
AIRE	326	broad.mit.edu	37	21	45712879	45712879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45712879C>T	ENST00000291582.5	+	10	1226	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	AIRE_ENST00000329347.4_Missense_Mutation_p.P160S|AIRE_ENST00000355347.4_Missense_Mutation_p.P160S	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	367					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GTTCCAGCTCCCCCCGGGGCT	0.672000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				29	52					0	0	0.001512	0	0
CEP290	80184	broad.mit.edu	37	12	88457856	88457856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:88457856C>T	ENST00000552810.1	-	45	6515	c.6172G>A	c.(6172-6174)Gaa>Aaa	p.E2058K	CEP290_ENST00000547691.2_Missense_Mutation_p.E1118K|CEP290_ENST00000397838.3_Missense_Mutation_p.E1118K|CEP290_ENST00000309041.7_Missense_Mutation_p.E2060K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2058					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTCCTGTTCTCTCTGACAA	0.308000													3	4					0	0	0.004672	0	0
LAIR1	3903	broad.mit.edu	37	19	54872608	54872608	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54872608T>C	ENST00000391743.3	-	2	505	c.225A>G	c.(223-225)gaA>gaG	p.E75E	LAIR1_ENST00000313038.6_Silent_p.E86E|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000434277.2_Silent_p.E92E|LAIR1_ENST00000348231.4_Silent_p.E93E|LAIR1_ENST00000391742.2_Silent_p.E93E|LAIR1_ENST00000474878.1_Silent_p.E92E			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	93	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CGGCATTTCCTTCACTTACTG	0.493000													72	170					0	0	0.003610	0	0
TGM7	116179	broad.mit.edu	37	15	43584964	43584964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43584964G>A	ENST00000452443.2	-	3	386	c.382C>T	c.(382-384)Cac>Tac	p.H128Y		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	128					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTCACACTGTGACCTTGGCCC	0.473000													67	216					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168101077	168101077	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168101077T>A	ENST00000409195.1	+	9	3264	c.3175T>A	c.(3175-3177)Ttt>Att	p.F1059I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F837I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1059I|XIRP2_ENST00000420519.1_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													7	9					0	0	0.003080	0	0
GLT6D1	360203	broad.mit.edu	37	9	138515950	138515950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138515950G>A	ENST00000371763.1	-	5	1077	c.824C>T	c.(823-825)cCc>cTc	p.P275L		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	275					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CAGCTAGGTGGGTTTATTGAG	0.388000													22	63					0	0	0.002299	0	0
RNF148	378925	broad.mit.edu	37	7	122342004	122342004	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:122342004G>A	ENST00000434824.1	-	1	1017	c.801C>T	c.(799-801)ccC>ccT	p.P267P	CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	267						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTACATCTTGGGGTTTGTATG	0.423000													8	27					0	0	0.004482	0	0
SETX	23064	broad.mit.edu	37	9	135173582	135173582	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:135173582T>C	ENST00000372169.2	-	13	5848	c.5666A>G	c.(5665-5667)aAg>aGg	p.K1889R	SETX_ENST00000224140.5_Missense_Mutation_p.K1889R|SETX_ENST00000393220.1_Missense_Mutation_p.K1889R			Q7Z333	SETX_HUMAN	senataxin	1889					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGCTTTCAACTTCCTTTGTGT	0.413000													8	86					0	0	0.003080	0	0
SPINT1	6692	broad.mit.edu	37	15	41146874	41146874	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:41146874C>T	ENST00000344051.4	+	8	1386	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SPINT1_ENST00000562057.1_Silent_p.F368F|SPINT1_ENST00000431806.1_Silent_p.F368F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	384						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATCCATTTCCCCAGTGACA	0.587000													38	108					0	0	0.003214	0	0
C11orf65	160140	broad.mit.edu	37	11	108332209	108332209	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:108332209G>A	ENST00000525729.1	-	2	147	c.78C>T	c.(76-78)ttC>ttT	p.F26F	C11orf65_ENST00000393084.1_Silent_p.F26F|C11orf65_ENST00000529391.1_Silent_p.F26F			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	26										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AACTCACAAGGAAACTTTTCC	0.303000													38	36					0	0	0.002522	0	0
MRVI1	10335	broad.mit.edu	37	11	10649568	10649568	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:10649568C>T	ENST00000547195.1	-	6	884	c.384G>A	c.(382-384)ttG>ttA	p.L128L	MRVI1_ENST00000552103.1_Silent_p.L128L|MRVI1_ENST00000436272.1_Intron|MRVI1_ENST00000541483.1_Silent_p.L219L|MRVI1_ENST00000527509.2_Silent_p.L128L|MRVI1_ENST00000421747.1_Silent_p.L210L|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Silent_p.L210L|MRVI1_ENST00000423302.2_Silent_p.L219L|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_Intron	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	209					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGCACACATCCAAACCTGGAA	0.622000													8	29					0	0	0.006214	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190617654	190617654	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:190617654T>A	ENST00000519810.1	-	7	1357	c.1015A>T	c.(1015-1017)Att>Ttt	p.I339F	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.I339F|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.I339F			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	339					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TTTGTTAAAATTTCCAGAGCT	0.408000													14	25					0	0	0.003163	0	0
CYP46A1	10858	broad.mit.edu	37	14	100173984	100173984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:100173984G>A	ENST00000554176.1	+	2	869	c.203G>A	c.(202-204)gGa>gAa	p.G68E	CYP46A1_ENST00000261835.3_Missense_Mutation_p.G221E|CYP46A1_ENST00000423126.2_Missense_Mutation_p.G124E			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	221					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ATGTTGGAGGGAATCACTGCG	0.567000													50	48					0	0	0.003610	0	0
PTPRO	5800	broad.mit.edu	37	12	15661609	15661609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:15661609G>A	ENST00000281171.4	+	7	1702	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	PTPRO_ENST00000348962.2_Missense_Mutation_p.E458K|PTPRO_ENST00000543886.1_Missense_Mutation_p.E458K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	458	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCTTCCCAAGAGAACTACAA	0.502000													13	6					0	0	0.003163	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185302	39185302	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:39185302G>A	ENST00000273153.5	-	5	1191	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	CSRNP1_ENST00000514182.1_Silent_p.P338P	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	338					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CATTGTTCATGGGGGGCTTGG	0.607000													18	52					0	0	0.001216	0	0
GJA4	2701	broad.mit.edu	37	1	35260147	35260147	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:35260147G>A	ENST00000342280.4	+	2	421	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	111					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGGAGGGGGAGCTGCGGG	0.657000													11	14					0	0	0.002450	0	0
UPF3B	65109	broad.mit.edu	37	X	118986781	118986781	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:118986781T>A	ENST00000276201.2	-	1	180	c.111A>T	c.(109-111)gaA>gaT	p.E37D	UPF3B_ENST00000345865.2_Missense_Mutation_p.E37D	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	37	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCTGCTTATCTTCCCCCTTGG	0.662000													67	170					0	0	0.003610	0	0
SP140	11262	broad.mit.edu	37	2	231135334	231135334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:231135334G>A	ENST00000392045.3	+	15	1592	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	SP140_ENST00000420434.3_Missense_Mutation_p.G466E|SP140_ENST00000350136.5_Missense_Mutation_p.G362E|SP140_ENST00000486687.2_Missense_Mutation_p.G417E|SP140_ENST00000343805.6_Missense_Mutation_p.G433E|SP140_ENST00000417495.3_Missense_Mutation_p.G379E	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	493					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCACTTTGGGAAAACCCAAG	0.289000													7	13					0	0	0.000673	0	0
MYCT1	80177	broad.mit.edu	37	6	153019221	153019221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:153019221G>A	ENST00000367245.5	+	1	192	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MYCT1_ENST00000529453.1_Missense_Mutation_p.E62K	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	62						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCCATGGCCAGAAAACTTTTG	0.318000													5	10					0	0	0.001984	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217025	40217025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:40217025C>T	ENST00000325157.6	-	5	1055	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	269										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAAACTTCTTCTGCTTCTGAC	0.408000													4	26					0	0	0.000248	0	0
UPRT	139596	broad.mit.edu	37	X	74523298	74523298	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:74523298T>C	ENST00000373383.4	+	7	1049	c.882T>C	c.(880-882)caT>caC	p.H294H	UPRT_ENST00000373379.1_3'UTR|UPRT_ENST00000530743.1_Silent_p.H158H	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	294					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTGAAGTTCATCCTGTTGCAC	0.294000													15	11					0	0	0.003163	0	0
RSPO1	284654	broad.mit.edu	37	1	38078566	38078566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38078566C>T	ENST00000356545.2	-	8	1440	c.653G>A	c.(652-654)gGc>gAc	p.G218D	RSPO1_ENST00000401068.1_Missense_Mutation_p.G218D|RSPO1_ENST00000401069.1_Missense_Mutation_p.G218D|RSPO1_ENST00000401070.1_Missense_Mutation_p.G155D|RSPO1_ENST00000401071.2_Missense_Mutation_p.G155D|RSPO1_ENST00000373059.1_Missense_Mutation_p.G191D	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	218					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCCGCCGGCCCTGGCCTCC	0.612000													19	15					0	0	0.002299	0	0
CD163	9332	broad.mit.edu	37	12	7636225	7636225	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7636225C>T	ENST00000359156.4	-	12	3028	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Silent_p.V975V|CD163_ENST00000541972.1_Silent_p.V930V|CD163_ENST00000432237.2_Silent_p.V942V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	942	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCAGATCTCCACACGTCCAG	0.483000													11	6					0	0	0.001368	0	0
LY75	4065	broad.mit.edu	37	2	160735213	160735213	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:160735213T>G	ENST00000263636.4	-	10	1562	c.1535A>C	c.(1534-1536)gAa>gCa	p.E512A	LY75_ENST00000554112.1_Missense_Mutation_p.E512A|LY75_ENST00000553424.1_Missense_Mutation_p.E512A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E512A|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E512A	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTAACAGGTTTCTCCATGTCT	0.418000													5	8					0	0	0.000602	0	0
FAM9A	171482	broad.mit.edu	37	X	8767046	8767046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:8767046C>T	ENST00000543214.1	-	3	316	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	FAM9A_ENST00000381003.3_Missense_Mutation_p.E61K	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	61						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				ACTTGAGCTTCCAACTGAGCT	0.597000													12	54					0	0	0.001855	0	0
TDRKH	11022	broad.mit.edu	37	1	151748637	151748637	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:151748637C>T	ENST00000368822.1	-	8	1785	c.1152G>A	c.(1150-1152)ttG>ttA	p.L384L	TDRKH_ENST00000368825.3_Silent_p.L339L|TDRKH_ENST00000440583.2_Silent_p.L160L|TDRKH_ENST00000368827.6_Silent_p.L384L|TDRKH_ENST00000368823.1_Silent_p.L380L|TDRKH_ENST00000368824.3_Silent_p.L384L|TDRKH_ENST00000458431.2_Silent_p.L384L			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	384	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATAGAGGTCCAAGTTCCCAT	0.507000													28	57					0	0	0.001786	0	0
CPD	1362	broad.mit.edu	37	17	28791734	28791734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:28791734C>T	ENST00000225719.4	+	21	4121	c.4045C>T	c.(4045-4047)Cgc>Tgc	p.R1349C	CPD_ENST00000543464.2_Missense_Mutation_p.R1102C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1349					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.R1349C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGATGAAATTCGCATGATGTC	0.423000													31	67					0	0	0.002836	0	0
CES1	1066	broad.mit.edu	37	16	55853480	55853480	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:55853480C>T	ENST00000422046.2	-	7	1151	c.870G>A	c.(868-870)acG>acA	p.T290T	CES1_ENST00000360526.3_Silent_p.T291T|CES1_ENST00000361503.4_Silent_p.T290T			P23141	EST1_HUMAN	carboxylesterase 1	290					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GCTCCTCTTCCGTCTTCTGTC	0.498000													19	68					0	0	0.003330	0	0
HSPG2	3339	broad.mit.edu	37	1	22175269	22175269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:22175269G>A	ENST00000374695.3	-	59	7683	c.7604C>T	c.(7603-7605)cCc>cTc	p.P2535L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2535	Ig-like C2-type 11.				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)	GATGCGGACGGGGTACGCCAC	0.642000													19	31					0	0	0.001882	0	0
ESPNL	339768	broad.mit.edu	37	2	239025581	239025581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:239025581C>T	ENST00000343063.3	+	5	1156	c.893C>T	c.(892-894)tCc>tTc	p.S298F	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	298										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)		GTGGACCCCTCCCTGCGGGAT	0.652000													36	19					0	0	0.004878	0	0
RPTOR	57521	broad.mit.edu	37	17	78704442	78704442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:78704442C>T	ENST00000306801.3	+	5	952	c.590C>T	c.(589-591)tCc>tTc	p.S197F	RPTOR_ENST00000537330.1_Missense_Mutation_p.S12F|RPTOR_ENST00000570891.1_Missense_Mutation_p.S197F|RPTOR_ENST00000544334.2_Missense_Mutation_p.S197F	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	197					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TACGACTGCTCCAATGCTGGC	0.547000													40	72					0	0	0.006230	0	0
ABCA7	10347	broad.mit.edu	37	19	1055316	1055316	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1055316C>T	ENST00000263094.6	+	30	4402	c.4171C>T	c.(4171-4173)Ctg>Ttg	p.L1391L	ABCA7_ENST00000433129.1_Silent_p.L1391L|ABCA7_ENST00000435683.2_Silent_p.L1253L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1391					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGACTTCCTGGTCAAGAC	0.657000													8	21					0	0	0.000673	0	0
SOGA1	140710	broad.mit.edu	37	20	35444583	35444583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:35444583G>A	ENST00000237536.4	-	5	1603	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	SOGA1_ENST00000357779.3_Missense_Mutation_p.S183L|SOGA1_ENST00000456801.2_Missense_Mutation_p.S24L|SOGA1_ENST00000279034.5_Missense_Mutation_p.S183L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	183										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCCATAGAGCGAGCGGTACTT	0.597000													29	94					0	0	0.001512	0	0
RBM27	54439	broad.mit.edu	37	5	145616976	145616976	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:145616976C>T	ENST00000265271.5	+	8	1426	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	RBM27_ENST00000506502.1_Silent_p.L420L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	420					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAACCTCCTTTACACAG	0.418000													25	53					0	0	0.005443	0	0
GLI2	2736	broad.mit.edu	37	2	121747836	121747836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:121747836G>A	ENST00000452319.1	+	14	4406	c.4346G>A	c.(4345-4347)gGc>gAc	p.G1449D	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.G1449D			P10070	GLI2_HUMAN	GLI family zinc finger 2	1449					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TACTACTACGGCCAGATCCAC	0.662000													34	54					0	0	0.005524	0	0
STRIP1	85369	broad.mit.edu	37	1	110587465	110587465	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:110587465G>T	ENST00000369795.3	+	11	1312	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	STRIP1_ENST00000369796.1_Missense_Mutation_p.E335D	NM_033088.2	NP_149079.2			striatin interacting protein 1																		GTGGCAGAGAGAAAGACATTG	0.393000													14	14					3.52763e-06	7.06873e-06	0.004990	1	0
ASB2	51676	broad.mit.edu	37	14	94404144	94404144	+	Silent	SNP	G	G	A	rs146138244	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94404144G>A	ENST00000555019.1	-	9	2101	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ASB2_ENST00000315988.4_Silent_p.I509I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	509	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGAGGACATCGATGATGGGCC	0.587000													11	44					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196837181	196837181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196837181G>A	ENST00000312428.6	-	16	1943	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	615	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCACTTTCTGAATGTAAGCC	0.413000													13	5					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9059000	9059000	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9059000C>T	ENST00000397910.4	-	3	28649	c.28446G>A	c.(28444-28446)ttG>ttA	p.L9482L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9484	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGGTTCCAAACTTGCAT	0.488000													8	47					0	0	0.000673	0	0
GPSM1	26086	broad.mit.edu	37	9	139252560	139252560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139252560G>A	ENST00000440944.1	+	14	2136	c.1916G>A	c.(1915-1917)aGg>aAg	p.R639K	GPSM1_ENST00000429455.1_Missense_Mutation_p.R130K|GPSM1_ENST00000392944.1_Missense_Mutation_p.R130K	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	639	GoLoco 4.				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CTCATTCAGAGGGTGCAGGCT	0.706000													29	21					0	0	0.007291	0	0
SRRM2	23524	broad.mit.edu	37	16	2813460	2813460	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2813460C>A	ENST00000301740.8	+	11	3480	c.2931C>A	c.(2929-2931)acC>acA	p.T977T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	977	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGATACCAAAGTGAAAC	0.498000													8	190					0.00448238	0.0089169	0.004482	1	0
PDLIM7	9260	broad.mit.edu	37	5	176915135	176915135	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:176915135G>A	ENST00000355841.2	-	10	1050	c.984C>T	c.(982-984)ttC>ttT	p.F328F	PDLIM7_ENST00000359895.2_Silent_p.F294F|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000393551.1_3'UTR	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	328	LIM zinc-binding 1.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGTGGGCAGAAGATGGCGC	0.607000													36	81					0	0	0.007835	0	0
PON1	5444	broad.mit.edu	37	7	94944730	94944730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:94944730C>T	ENST00000222381.3	-	4	505	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PON1_ENST00000542556.1_Missense_Mutation_p.E92K	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	92					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGATCTTCTTCATTCAGGTCC	0.383000													26	34					0	0	0.004656	0	0
KCNC3	3748	broad.mit.edu	37	19	50826956	50826956	+	Silent	SNP	G	G	A	rs147343947		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50826956G>A	ENST00000376959.2	-	2	1417	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	KCNC3_ENST00000477616.1_Silent_p.F418F|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	418					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGATGCGGACGAAGCGGACCA	0.657000													10	39					0	0	0.000978	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740413	50740413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:50740413C>T	ENST00000008391.3	+	8	1423	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	399	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAGCACTTTCCAAACAGTTCT	0.463000													19	21					0	0	0.002299	0	0
ADH1A	124	broad.mit.edu	37	4	100208064	100208064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100208064G>A	ENST00000209668.2	-	3	315	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	68					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCTGCCTCATGGCCTAAAATC	0.502000													41	70					0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45262127	45262127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:45262127G>A	ENST00000303230.4	-	8	2626	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	857	Poly-Pro.			P -> L (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTGCTGGAGGGACTCCTCGG	0.597000													52	124					0	0	0.003610	0	0
NLRP1	22861	broad.mit.edu	37	17	5433988	5433988	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:5433988G>A	ENST00000345221.3	-	12	3887	c.3333C>T	c.(3331-3333)ccC>ccT	p.P1111P	NLRP1_ENST00000354411.3_Silent_p.P1081P|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.P1111P|NLRP1_ENST00000577119.1_Silent_p.P1081P|NLRP1_ENST00000572272.1_Silent_p.P1111P|NLRP1_ENST00000262467.5_Silent_p.P1115P	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1111					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GACCCGTGTTGGGCCAGCGGT	0.552000													13	30					0	0	0.003163	0	0
EGFR	1956	broad.mit.edu	37	7	55268959	55268959	+	Missense_Mutation	SNP	G	G	A	rs148019583		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:55268959G>A	ENST00000275493.2	+	25	3202	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.D964N|EGFR_ENST00000454757.2_Missense_Mutation_p.D956N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1009					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGACATGGACGACGTGGTGGA	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			47	72					0	0	0.003610	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:43032468C>T	ENST00000399770.2	+	4	784	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					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	p.R262*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473000													17	28					0	0	0.006122	0	0
STARD13	90627	broad.mit.edu	37	13	33704024	33704024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:33704024C>T	ENST00000336934.5	-	5	906	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	STARD13_ENST00000399365.3_Missense_Mutation_p.E146K|STARD13_ENST00000255486.4_Missense_Mutation_p.E256K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGGAGTGTTTCCATGCGTTTC	0.607000													58	49					0	0	0.003610	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455329	70455329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:70455329C>T	ENST00000503640.1	-	6	1400	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	UGT2A1_ENST00000512704.1_Missense_Mutation_p.D405N|UGT2A1_ENST00000286604.4_Missense_Mutation_p.D449N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.D615N|UGT2A2_ENST00000457664.2_Missense_Mutation_p.D458N|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	449					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTGATCATGGTGAATT	0.408000													11	15					0	0	0.000978	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820027	179820027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:179820027G>A	ENST00000367612.3	-	4	893	c.506C>T	c.(505-507)gCa>gTa	p.A169V		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	169						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTTGCCCTGCACTGGAATG	0.562000													51	53					0	0	0.003610	0	0
NDST3	9348	broad.mit.edu	37	4	118975704	118975704	+	Silent	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:118975704T>G	ENST00000296499.5	+	2	1042	c.639T>G	c.(637-639)ggT>ggG	p.G213G	NDST3_ENST00000433996.2_Silent_p.G213G	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	213	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGAAAAAGGTTCTTTACCTG	0.363000													4	11					0	0	0.000248	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270726	97270726	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:97270726A>C	ENST00000523821.1	-	2	312	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A	MTERFD1_ENST00000287025.3_Missense_Mutation_p.S65A			Q96E29	MTER1_HUMAN	MTERF domain containing 1	65					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TTCCATAAGGAGGAAGTCCTG	0.443000													39	101					0	0	0.006999	0	0
TMEM130	222865	broad.mit.edu	37	7	98445747	98445747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:98445747C>T	ENST00000450876.1	-	8	2267	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	TMEM130_ENST00000339375.4_Missense_Mutation_p.E402K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E300K|TMEM130_ENST00000546258.1_Missense_Mutation_p.E383K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E414K			Q8N3G9	TM130_HUMAN	transmembrane protein 130	414						Golgi membrane|integral to membrane		p.E402Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGAACAATTTCCAGGTACTCA	0.572000													40	56					0	0	0.006999	0	0
TDRD9	122402	broad.mit.edu	37	14	104493047	104493047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104493047C>T	ENST00000409874.4	+	28	3101	c.3053C>T	c.(3052-3054)cCa>cTa	p.P1018L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P1018L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1018					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AAAATGAGACCATCAGCAAAG	0.483000													13	56					0	0	0.001855	0	0
ZNF233	353355	broad.mit.edu	37	19	44778448	44778448	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:44778448T>G	ENST00000391958.2	+	5	1762	c.1635T>G	c.(1633-1635)ttT>ttG	p.F545L	ZNF233_ENST00000334152.1_Missense_Mutation_p.F527L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGAAGGGCTTTAGTCAGAGTT	0.473000													8	26					0	0	0.004482	0	0
C2orf71	388939	broad.mit.edu	37	2	29294311	29294311	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:29294311C>T	ENST00000331664.5	-	1	2816	c.2817G>A	c.(2815-2817)ggG>ggA	p.G939G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	939					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GACTCCAAGTCCCACCCTTCA	0.667000													19	47					0	0	0.002299	0	0
LRRC4	64101	broad.mit.edu	37	7	127669172	127669172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:127669172C>T	ENST00000249363.3	-	2	1779	c.1522G>A	c.(1522-1524)Gcg>Acg	p.A508T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	508	Thr-rich.					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)		GTGTCTGTCGCGGGTACTGCC	0.557000													46	35					0	0	0.003610	0	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	G	A	rs150510557		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57646552G>A	ENST00000269834.1	-	5	1538	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000													42	88					0	0	0.002222	0	0
CECR2	27443	broad.mit.edu	37	22	18028669	18028669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:18028669C>T	ENST00000262608.8	+	16	3629	c.3629C>T	c.(3628-3630)cCc>cTc	p.P1210L	CECR2_ENST00000400585.2_Missense_Mutation_p.P1067L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1209L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1251					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGTCAGCCTCCCCCACCAAGG	0.562000													20	53					0	0	0.007413	0	0
CDCP1	64866	broad.mit.edu	37	3	45153631	45153631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:45153631C>T	ENST00000296129.1	-	3	733	c.599G>A	c.(598-600)tGg>tAg	p.W200*	CDCP1_ENST00000425231.2_Nonsense_Mutation_p.W200*	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	200						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGGGTGGAACCATGGGAGGTG	0.502000													12	43					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:114326902C>T	ENST00000297405.5	-	2	543	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R60Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R100Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R100Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	100	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			56	203					0	0	0.003610	0	0
AGK	55750	broad.mit.edu	37	7	141255285	141255285	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141255285A>C	ENST00000355413.4	+	2	279	c.19A>C	c.(19-21)Acg>Ccg	p.T7P	AGK_ENST00000492693.1_Missense_Mutation_p.T7P|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000535825.1_Missense_Mutation_p.T7P|AGK_ENST00000473247.1_5'UTR	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	7					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTTCTTTAAAACGCTTCGAAA	0.433000													57	77					0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1268002	1268002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1268002C>T	ENST00000348261.5	+	32	5655	c.5407C>T	c.(5407-5409)Cgc>Tgc	p.R1803C	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1797C|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1797C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1803					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CACGCTGTTCCGCGTGTCCAC	0.652000													6	8					0	0	0.003080	0	0
TMEM71	137835	broad.mit.edu	37	8	133740151	133740151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:133740151G>A	ENST00000356838.3	-	6	654	c.512C>T	c.(511-513)tCc>tTc	p.S171F	TMEM71_ENST00000523829.1_Missense_Mutation_p.S190F|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	190						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGTGGCTGGAAGAGGAGGT	0.473000													14	58					0	0	0.003163	0	0
P2RY14	9934	broad.mit.edu	37	3	150931652	150931652	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:150931652G>A	ENST00000309170.3	-	3	765	c.453C>T	c.(451-453)ctC>ctT	p.L151L	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Silent_p.L151L|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAACAGCAAGGAGGAGCATGA	0.393000													4	12					0	0	0.000248	0	0
SIRT2	22933	broad.mit.edu	37	19	39379775	39379775	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:39379775G>A	ENST00000249396.7	-	8	754	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SIRT2_ENST00000392081.2_Silent_p.F114F|SIRT2_ENST00000358931.5_Silent_p.F151F	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	151	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCAGGCGCATGAAGTAGTGAC	0.617000													29	75					0	0	0.004289	0	0
MYO9B	4650	broad.mit.edu	37	19	17311626	17311626	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:17311626C>T	ENST00000595618.1	+	26	4703	c.4551C>T	c.(4549-4551)ttC>ttT	p.F1517F	MYO9B_ENST00000397274.2_Silent_p.F1517F|MYO9B_ENST00000594824.1_Silent_p.F1517F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1517	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGACGAGTTCCTGCTCAACA	0.552000													33	111					0	0	0.003271	0	0
CFHR2	3080	broad.mit.edu	37	1	196920005	196920005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:196920005G>A	ENST00000367415.4	+	3	391	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CFHR2_ENST00000367421.3_Missense_Mutation_p.E93K|CFHR2_ENST00000476712.1_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	93	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TCCTTTTGTGGAAAATGGTCA	0.323000													6	23					0	0	0.001168	0	0
NODAL	4838	broad.mit.edu	37	10	72195499	72195499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:72195499G>A	ENST00000420338.2	+	1	915	c.446G>A	c.(445-447)gGt>gAt	p.G149D	NODAL_ENST00000287139.3_Missense_Mutation_p.T145I																							CAAGGAAAAGGTGACCTGGGA	0.557000													20	30					0	0	0.001523	0	0
NEK10	152110	broad.mit.edu	37	3	27393973	27393973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:27393973G>A	ENST00000429845.2	-	4	477	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.Q39*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	39							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCTTGATTGGACGTTCAAA	0.383000													4	14					0	0	0.001168	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000282	46000282	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:46000282G>A	ENST00000400372.1	-	1	199	c.174C>T	c.(172-174)ccC>ccT	p.P58P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	58	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCAGGGGCTGGGCTCACAGG	0.731000													16	75					0	0	0.004007	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818809	200818809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200818809C>T	ENST00000358823.2	+	11	3182	c.2912C>T	c.(2911-2913)tCt>tTt	p.S971F	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.S982F|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S955F	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	982						cytoplasm|microtubule	protein binding										GCATCTTTTTCTGTTAAAAGT	0.473000													38	54					0	0	0.005524	0	0
ALB	213	broad.mit.edu	37	4	74276105	74276105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74276105G>A	ENST00000295897.4	+	6	781	c.692G>A	c.(691-693)gGa>gAa	p.G231E	ALB_ENST00000401494.3_Missense_Mutation_p.G116E|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.G231E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.G81E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	231	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAAAAATTTGGAGAAAGAGCT	0.358000													40	36					0	0	0.007835	0	0
RSAD1	55316	broad.mit.edu	37	17	48559709	48559709	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48559709C>T	ENST00000258955.2	+	4	817	c.732C>T	c.(730-732)gcC>gcT	p.A244A		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	244					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCGGGGTGCCCTTCCAGCCC	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	49					0	0	0.003610	0	0
ADCK1	57143	broad.mit.edu	37	14	78399691	78399691	+	Missense_Mutation	SNP	G	G	T	rs141695743	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:78399691G>T	ENST00000238561.5	+	11	1628	c.1529G>T	c.(1528-1530)cGg>cTg	p.R510L	ADCK1_ENST00000341211.5_Missense_Mutation_p.R442L|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	517						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CTGGCTGACCGGGTCTTGGCC	0.547000													6	198					0.00307968	0.00613492	0.003080	1	0
CFB	629	broad.mit.edu	37	6	31919014	31919014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31919014G>A	ENST00000556679.1	+	27	3510	c.3455G>A	c.(3454-3456)gGg>gAg	p.G1152E	CFB_ENST00000425368.2_Missense_Mutation_p.G650E|CFB_ENST00000477310.1_Missense_Mutation_p.G1001E|CFB_ENST00000456570.1_Missense_Mutation_p.G1152E			P00751	CFAB_HUMAN	complement factor B	650					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATCAAGAATGGGGATAAGGTG	0.512000													136	106					0	0	0.003610	0	0
FARS2	10667	broad.mit.edu	37	6	5368915	5368915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:5368915G>A	ENST00000324331.6	+	2	448	c.112G>A	c.(112-114)Gca>Aca	p.A38T	FARS2_ENST00000274680.4_Missense_Mutation_p.A38T			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	38					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GAGGCCTCCTGCAGCAGAGTG	0.602000													7	17					0	0	0.003080	0	0
GDPD2	54857	broad.mit.edu	37	X	69652228	69652228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:69652228G>A	ENST00000453994.2	+	14	1893	c.1532G>A	c.(1531-1533)tGg>tAg	p.W511*	GDPD2_ENST00000538649.1_Nonsense_Mutation_p.W381*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.W381*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.W460*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	460					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCTCTGCTTTGGTGTGCAGGG	0.507000													56	118					0	0	0.003610	0	0
PTPN4	5775	broad.mit.edu	37	2	120720232	120720232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120720232C>T	ENST00000263708.2	+	24	3092	c.2321C>T	c.(2320-2322)tCa>tTa	p.S774L	PTPN4_ENST00000544261.1_Missense_Mutation_p.S407L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	774	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACAGGCAGTTCATCTTATGGA	0.363000													18	20					0	0	0.007413	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883067	228883067	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228883067G>A	ENST00000392056.3	-	7	2549	c.2503C>T	c.(2503-2505)Ctg>Ttg	p.L835L	SPHKAP_ENST00000344657.5_Silent_p.L835L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	835						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCCTTTCAGATATATTTCC	0.493000													27	42					0	0	0.005443	0	0
SLC43A3	29015	broad.mit.edu	37	11	57175281	57175281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57175281G>A	ENST00000395123.2	-	14	1764	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000352187.1_Missense_Mutation_p.P487L|SLC43A3_ENST00000533524.1_Missense_Mutation_p.P500L|SLC43A3_ENST00000529554.1_Missense_Mutation_p.P487L|SLC43A3_ENST00000395124.1_Missense_Mutation_p.P487L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	487					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AATTGCAGAGGGACTTTCTTT	0.478000													12	28					0	0	0.002450	0	0
CBS	875	broad.mit.edu	37	21	44492180	44492180	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:44492180G>A	ENST00000398165.3	-	3	383	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L	CBS_ENST00000352178.5_Silent_p.L42L|CBS_ENST00000398168.1_Silent_p.L42L|CBS_ENST00000359624.3_Silent_p.L42L|CBS_ENST00000398158.1_Silent_p.L42L|CBS_ENST00000470912.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	42					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGGATCCACAGGGGCTCCTTG	0.672000													217	245					0	0	0.003610	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692245	31692245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:31692245C>T	ENST00000360542.3	-	1	362	c.109G>A	c.(109-111)Gga>Aga	p.G37R		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	37						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGACATCTCCACAGCTCACG	0.567000													13	1					0	0	0.001368	0	0
PNOC	5368	broad.mit.edu	37	8	28196901	28196901	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:28196901G>A	ENST00000301908.3	+	3	679	c.471G>A	c.(469-471)ttG>ttA	p.L157L	PNOC_ENST00000522209.1_Silent_p.L93L	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	157					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGCAATACTTGGTCCTGAGCA	0.602000													30	43					0	0	0.003755	0	0
UTP14A	10813	broad.mit.edu	37	X	129059154	129059154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129059154C>T	ENST00000394422.3	+	12	1760	c.1732C>T	c.(1732-1734)Ccc>Tcc	p.P578S	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.P526S|UTP14A_ENST00000371042.3_Missense_Mutation_p.P410S|UTP14A_ENST00000371051.5_Missense_Mutation_p.P524S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	578					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTGGCAGTTCCCACAATAGA	0.512000													37	107					0	0	0.001951	0	0
GAD1	2571	broad.mit.edu	37	2	171702533	171702533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:171702533C>T	ENST00000358196.3	+	10	1512	c.962C>T	c.(961-963)cCa>cTa	p.P321L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	321					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAAATAATTCCAGCTGATTTT	0.363000													10	32					0	0	0.001855	0	0
FBLN5	10516	broad.mit.edu	37	14	92349413	92349413	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:92349413G>C	ENST00000267620.10	-	9	1039	c.870C>G	c.(868-870)gaC>gaG	p.D290E	FBLN5_ENST00000556154.1_Missense_Mutation_p.D254E|FBLN5_ENST00000342058.4_Missense_Mutation_p.D249E			Q9UBX5	FBLN5_HUMAN	fibulin 5	249	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.D249D(1)|p.D249E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGCTGCACTCGTCCATATCTG	0.532000													39	36					0	0	0.002852	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581199	24581199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:24581199C>T	ENST00000535378.1	-	8	1849	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	KIAA0319_ENST00000430948.2_Missense_Mutation_p.E367K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E412K|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E412K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E412K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	412	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAGGCGTTTTCACTAGAAACA	0.408000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					0	0	0.002450	0	0
SPACA7	122258	broad.mit.edu	37	13	113047373	113047373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113047373G>A	ENST00000283550.3	+	2	200	c.133G>A	c.(133-135)Gat>Aat	p.D45N	SPACA7_ENST00000375699.3_Intron	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	45						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AAAACAGGAGGATATGTCTGA	0.403000													33	91					0	0	0.006999	0	0
NUP85	79902	broad.mit.edu	37	17	73221904	73221904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:73221904G>A	ENST00000447371.2	+	9	887	c.463G>A	c.(463-465)Gat>Aat	p.D155N	NUP85_ENST00000541827.1_Missense_Mutation_p.D277N|NUP85_ENST00000245544.4_Missense_Mutation_p.D323N|NUP85_ENST00000579324.1_Missense_Mutation_p.D211N|NUP85_ENST00000579298.1_Missense_Mutation_p.D278N|NUP85_ENST00000449421.2_3'UTR			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	323					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AAAACCCATTGATCTGCACTA	0.522000													46	114					0	0	0.003610	0	0
MCAT	27349	broad.mit.edu	37	22	43537198	43537198	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:43537198C>G	ENST00000290429.5	-	2	526	c.481G>C	c.(481-483)Gtg>Ctg	p.V161L	MCAT_ENST00000327555.5_Missense_Mutation_p.V161L|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	161					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCGGCAAACACTAGGGCTGCA	0.532000													153	89					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28149569	28149569	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:28149569C>T	ENST00000305242.5	-	19	3098	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E	ARMC4_ENST00000537576.1_Silent_p.E694E|ARMC4_ENST00000545014.1_Silent_p.E527E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1002							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCACCATTCTCATGCATGG	0.438000													12	2					0	0	0.001368	0	0
RFTN1	23180	broad.mit.edu	37	3	16364959	16364959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:16364959C>T	ENST00000334133.4	-	9	1528	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.G383E	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	419						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGATACACTCCCCTCGCTGTA	0.453000													8	24					0	0	0.004482	0	0
IRGC	56269	broad.mit.edu	37	19	44223547	44223547	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:44223547C>T	ENST00000244314.5	+	2	1036	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	279						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCATCCAGGCCCTGCCGGTCC	0.632000													69	37					0	0	0.003610	0	0
PJA1	64219	broad.mit.edu	37	X	68382130	68382130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:68382130C>T	ENST00000361478.1	-	2	1329	c.952G>A	c.(952-954)Gag>Aag	p.E318K	PJA1_ENST00000374584.3_Missense_Mutation_p.E130K|PJA1_ENST00000374583.1_Missense_Mutation_p.E318K|PJA1_ENST00000374571.4_Missense_Mutation_p.E263K	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	318							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TACTTTGGCTCGGGATAGCCA	0.567000													31	21					0	0	0.007291	0	0
SLC52A3	113278	broad.mit.edu	37	20	742357	742357	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:742357C>T	ENST00000381944.3	-	4	1426	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	SLC52A3_ENST00000217254.7_Silent_p.G395G|SLC52A3_ENST00000473664.1_5'UTR			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	395					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGAGGACTTCCCCACCCCAGT	0.672000													15	39					0	0	0.004007	0	0
C14orf166B	145497	broad.mit.edu	37	14	77304259	77304259	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77304259C>T	ENST00000393774.3	+	5	664	c.540C>T	c.(538-540)atC>atT	p.I180I	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Silent_p.I163I	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	180										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGGCCAGAATCATCTCAGATT	0.448000													5	6					0	0	0.001168	0	0
SALL3	27164	broad.mit.edu	37	18	76754601	76754601	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:76754601G>A	ENST00000536229.3	+	1	2920	c.2211G>A	c.(2209-2211)ggG>ggA	p.G737G	SALL3_ENST00000575389.2_Silent_p.G870G|SALL3_ENST00000537592.2_Silent_p.G870G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGGGTCCGGGGAGAGTGACC	0.672000													14	73					0	0	0.002450	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073196	34073196	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:34073196G>A	ENST00000254466.6	-	6	1347	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	GAS2L2_ENST00000587565.1_Silent_p.L424L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	440					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAATGGCTCGGAGTCTTTGTG	0.612000													53	158					0	0	0.003610	0	0
ULBP3	79465	broad.mit.edu	37	6	150385785	150385785	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:150385785C>G	ENST00000367339.1	-	4	721	c.693G>C	c.(691-693)tgG>tgC	p.W231C	ULBP3_ENST00000438272.2_Missense_Mutation_p.W231C			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	231					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TGAGGAAGCTCCAGGGACTGA	0.527000													71	7					0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124646426	124646426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:124646426G>A	ENST00000311075.3	-	2	502	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	155	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GCCAGTGGGAGGCCCTGATGA	0.463000													22	45					0	0	0.002299	0	0
MICALCL	84953	broad.mit.edu	37	11	12315719	12315719	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:12315719G>A	ENST00000256186.2	+	3	1032	c.741G>A	c.(739-741)caG>caA	p.Q247Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	247					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGGGGCCCAGGAGAAGATGG	0.632000													19	12					0	0	0.001216	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279876	53279876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53279876G>A	ENST00000396435.3	-	5	2082	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	IQSEC2_ENST00000375365.2_Missense_Mutation_p.P423S|IQSEC2_ENST00000375368.5_Missense_Mutation_p.P618S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	618	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCCCATGGGGGCTGCAGCCA	0.672000													15	35					0	0	0.006122	0	0
ADCY10	55811	broad.mit.edu	37	1	167798538	167798538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:167798538C>T	ENST00000367848.1	-	26	3938	c.3441G>A	c.(3439-3441)atG>atA	p.M1147I	ADCY10_ENST00000545172.1_Missense_Mutation_p.M1086I|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.M1239I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1239					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGCAGTATTCATTTGCATCA	0.413000													44	46					0	0	0.002222	0	0
MYH1	4619	broad.mit.edu	37	17	10399789	10399789	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10399789C>T	ENST00000226207.5	-	34	4828	c.4734G>A	c.(4732-4734)agG>agA	p.R1578R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1578						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1578R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCAATTTTCCTATCAACCT	0.448000													68	126					0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29293904	29293904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:29293904G>A	ENST00000331664.5	-	1	3223	c.3224C>T	c.(3223-3225)aCc>aTc	p.T1075I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1075	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGGTGCTGGGTTGGGGGGCT	0.622000													75	48					0	0	0.003610	0	0
PTPN14	5784	broad.mit.edu	37	1	214557025	214557025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:214557025G>A	ENST00000366956.5	-	13	2367	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	725					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)		CGGAGCATGGGGATCTGGGGC	0.612000													24	69					0	0	0.003330	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428878	120428878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:120428878G>A	ENST00000222747.3	-	8	1293	c.686C>T	c.(685-687)tCc>tTc	p.S229F	TSPAN12_ENST00000415871.1_Missense_Mutation_p.S229F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	229					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CACCCCAATGGAGATTCCCAG	0.453000													9	17					0	0	0.006214	0	0
STRC	161497	broad.mit.edu	37	15	43893739	43893739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43893739G>A	ENST00000450892.2	-	24	4633	c.4556C>T	c.(4555-4557)cCc>cTc	p.P1519L	STRC_ENST00000541030.1_Missense_Mutation_p.P746L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1519					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCCCGGGGGGGACCCCACAA	0.527000													15	27					0	0	0.003163	0	0
IPO13	9670	broad.mit.edu	37	1	44433043	44433043	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:44433043C>T	ENST00000372343.3	+	19	3332	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	IPO13_ENST00000372339.3_Silent_p.F108F	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	890					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATATCCTGTTCGCCCTGAACA	0.627000													45	48					0	0	0.003610	0	0
TAF6L	10629	broad.mit.edu	37	11	62554116	62554116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:62554116C>T	ENST00000294168.3	+	11	1418	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	406					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CAAGAGTCGTCCTCCGGGGGC	0.711000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	32					0	0	0.002299	0	0
VSIG2	23584	broad.mit.edu	37	11	124619677	124619677	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124619677C>T	ENST00000403470.1	-	4	568	c.513G>A	c.(511-513)ggG>ggA	p.G171G	VSIG2_ENST00000326621.5_Silent_p.G171G			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	171	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCTTAGGAGCCCCCTCGGAAG	0.527000													33	73					0	0	0.003755	0	0
MYF6	4618	broad.mit.edu	37	12	81101525	81101525	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:81101525C>T	ENST00000228641.3	+	1	249	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	9					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTGAAACTGGCTCCTATTTCT	0.488000													31	105					0	0	0.005524	0	0
ZNF345	25850	broad.mit.edu	37	19	37368393	37368393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:37368393C>T	ENST00000529555.1	+	2	1449	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	ZNF345_ENST00000420450.1_Missense_Mutation_p.R221W|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R221W			Q14585	ZN345_HUMAN	zinc finger protein 345	221					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.R221W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCAACATCGGCGGATTCA	0.448000													8	30					0	0	0.004482	0	0
PTPRD	5789	broad.mit.edu	37	9	8524996	8524996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:8524996C>T	ENST00000381196.4	-	15	1151	c.608G>A	c.(607-609)gGa>gAa	p.G203E	PTPRD_ENST00000540109.1_Missense_Mutation_p.G203E|PTPRD_ENST00000360074.4_Missense_Mutation_p.G194E|PTPRD_ENST00000537002.1_Missense_Mutation_p.G200E|PTPRD_ENST00000358503.5_Missense_Mutation_p.G194E|PTPRD_ENST00000486161.1_Missense_Mutation_p.G203E|PTPRD_ENST00000356435.5_Missense_Mutation_p.G203E|PTPRD_ENST00000397606.3_Missense_Mutation_p.G197E|PTPRD_ENST00000397611.3_Missense_Mutation_p.G200E|PTPRD_ENST00000397617.3_Missense_Mutation_p.G197E|PTPRD_ENST00000355233.5_Missense_Mutation_p.G203E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	203	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCATATTTTCCTTGGTCAGA	0.453000										TSP Lung(15;0.13)			7	6					0	0	0.003080	0	0
PRPS1	5631	broad.mit.edu	37	X	106882636	106882636	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:106882636G>A	ENST00000372435.4	+	2	356	c.234G>A	c.(232-234)aaG>aaA	p.K78K	PRPS1_ENST00000372418.1_Silent_p.K11K|PRPS1_ENST00000543248.1_Silent_p.K78K|PRPS1_ENST00000372419.3_Silent_p.K78K|PRPS1_ENST00000372428.4_Silent_p.K11K	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	78					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ATGCCTGCAAGATTGCTTCAG	0.433000													94	74					0	0	0.003610	0	0
MEGF8	1954	broad.mit.edu	37	19	42848125	42848125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:42848125C>T	ENST00000334370.4	+	10	2323	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	MEGF8_ENST00000251268.6_Missense_Mutation_p.S563F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	563	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GACTACTGCTCCATGTACACA	0.662000													21	41					0	0	0.003954	0	0
DNHD1	144132	broad.mit.edu	37	11	6519728	6519728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6519728C>T	ENST00000254579.6	+	3	847	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C	DNHD1_ENST00000527990.2_Missense_Mutation_p.R95C|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Missense_Mutation_p.R95C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	95					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCTCCATATCGTGAGTTGCT	0.567000													33	62					0	0	0.002096	0	0
MDC1	9656	broad.mit.edu	37	6	30680309	30680309	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:30680309G>A	ENST00000376406.3	-	5	2057	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	MDC1_ENST00000376405.2_Silent_p.V470V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	470	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GATCCTTGAGGACAGCTTCTC	0.493000								Other conserved DNA damage response genes					92	54					0	0	0.003610	0	0
OR10A2	341276	broad.mit.edu	37	11	6891707	6891707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6891707C>T	ENST00000307322.4	+	1	784	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCTATATATCATTAAGCCTC	0.433000													23	46					0	0	0.003330	0	0
ACP5	54	broad.mit.edu	37	19	11687173	11687173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11687173G>A	ENST00000592828.1	-	6	1022	c.620C>T	c.(619-621)cCc>cTc	p.P207L	ACP5_ENST00000218758.5_Missense_Mutation_p.P207L|ACP5_ENST00000412435.2_Missense_Mutation_p.P207L|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.P207L	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	207					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GGACCACACGGGGTAGTGGCC	0.667000													15	33					0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85664947	85664947	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:85664947G>A	ENST00000322366.6	-	37	6386	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S	WDFY3_ENST00000295888.4_Silent_p.S1993S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1993						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCTTTCAGGGGAAGCCTAAT	0.313000													18	35					0	0	0.001216	0	0
CDH7	1005	broad.mit.edu	37	18	63527017	63527017	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:63527017C>A	ENST00000536984.2	+	10	2262	c.1568C>A	c.(1567-1569)aCg>aAg	p.T523K	CDH7_ENST00000323011.3_Missense_Mutation_p.T523K|CDH7_ENST00000397968.2_Missense_Mutation_p.T523K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	523	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTAACAACGGATGCAACA	0.363000													5	15					0.000602214	0.00120422	0.000602	1	0
SEC24D	9871	broad.mit.edu	37	4	119652550	119652550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:119652550C>T	ENST00000379735.5	-	21	3063	c.2792G>A	c.(2791-2793)tGg>tAg	p.W931*	SEC24D_ENST00000511481.1_Nonsense_Mutation_p.W561*|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Nonsense_Mutation_p.W930*|SEC24D_ENST00000429811.2_3'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	930					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TACTCCCAACCACAGGAACAT	0.418000													3	5					0	0	0.004672	0	0
KLHL13	90293	broad.mit.edu	37	X	117053617	117053617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:117053617C>T	ENST00000371876.1	-	3	2705	c.284G>A	c.(283-285)aGg>aAg	p.R95K	KLHL13_ENST00000469946.1_Missense_Mutation_p.R95K|KLHL13_ENST00000539496.1_Missense_Mutation_p.R149K|KLHL13_ENST00000540167.1_Missense_Mutation_p.R130K|KLHL13_ENST00000262820.3_Missense_Mutation_p.R146K|KLHL13_ENST00000371878.1_Missense_Mutation_p.R95K|KLHL13_ENST00000371882.1_Missense_Mutation_p.R95K|KLHL13_ENST00000541812.1_Missense_Mutation_p.R130K|KLHL13_ENST00000545703.1_Missense_Mutation_p.R104K			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	146	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AATAATTTTCCTTAGACCGAC	0.353000													17	51					0	0	0.004990	0	0
ZNF543	125919	broad.mit.edu	37	19	57838006	57838006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57838006C>T	ENST00000321545.4	+	3	496	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACAGGCTGTCCTTTGTTCAA	0.488000													27	79					0	0	0.001512	0	0
C5orf54	63920	broad.mit.edu	37	5	159821391	159821391	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:159821391C>T	ENST00000408953.3	-	2	1614	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	C5orf54_ENST00000523213.1_Silent_p.E369E	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	369										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						gaattttaaactctttatttt	0.348000													21	45					0	0	0.002299	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882720	143882720	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143882720G>A	ENST00000486333.1	+	1	2162	c.2124G>A	c.(2122-2124)gtG>gtA	p.V708V		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	708	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TGTTTCCAGTGGATACAAGGG	0.512000													42	598					0	0	0.003610	0	0
WDR44	54521	broad.mit.edu	37	X	117532377	117532377	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:117532377A>G	ENST00000254029.3	+	8	1613	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	WDR44_ENST00000371825.3_Silent_p.E406E|WDR44_ENST00000371822.5_Silent_p.E381E	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	406						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGATGATGAAGAGAAGTTAC	0.348000													11	28					0	0	0.001368	0	0
ADH1C	126	broad.mit.edu	37	4	100268230	100268230	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100268230C>T	ENST00000515683.1	-	0	543				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGCCTAAAATCACAGGAAGGG	0.493000													24	31					0	0	0.003330	0	0
SDPR	8436	broad.mit.edu	37	2	192701079	192701079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:192701079G>A	ENST00000304141.4	-	2	1177	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	283						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTTTCCTGAGGATATTTTCTG	0.448000													186	113					0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6712574	6712574	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6712574A>T	ENST00000245907.6	-	10	1156	c.1064T>A	c.(1063-1065)aTc>aAc	p.I355N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	355					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTGAAGTGGATCTGGTAGGG	0.617000													116	174					0	0	0.003610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487802	248487802	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248487802G>A	ENST00000317965.2	-	1	97	c.69C>T	c.(67-69)acC>acT	p.T23T		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T23T(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGAAGGTGTGGGTGGGGCTAT	0.498000													14	50					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179426177	179426177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179426177G>A	ENST00000589042.1	-	326	84906	c.84682C>T	c.(84682-84684)Cgt>Tgt	p.R28228C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26587C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25660C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19288C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19163C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19355C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26587	Ig-like 131.						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)			GCATATACACGATACTCATAC	0.408000													4	15					0	0	0.000248	0	0
FHL1	2273	broad.mit.edu	37	X	135289325	135289325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135289325G>A	ENST00000543669.1	+	3	1018	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	FHL1_ENST00000370683.1_Missense_Mutation_p.G119R|FHL1_ENST00000535737.1_Missense_Mutation_p.G103R|FHL1_ENST00000394155.2_Missense_Mutation_p.G103R|FHL1_ENST00000394153.2_Missense_Mutation_p.G103R|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000345434.3_Missense_Mutation_p.G103R|FHL1_ENST00000539015.1_Missense_Mutation_p.G132R|FHL1_ENST00000370676.3_Missense_Mutation_p.G119R|FHL1_ENST00000370690.3_Missense_Mutation_p.G103R	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	103	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAAGTGCAAGGGGTGCTTCAA	0.592000													44	25					0	0	0.003610	0	0
HK2	3099	broad.mit.edu	37	2	75115095	75115095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:75115095C>T	ENST00000290573.2	+	16	2885	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	HK2_ENST00000409174.1_Missense_Mutation_p.T734I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	762	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATCGATTTCACCAAGCGTGGA	0.468000													42	136					0	0	0.001951	0	0
DUOX2	50506	broad.mit.edu	37	15	45398524	45398524	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:45398524C>T	ENST00000389039.6	-	17	2332	c.1945_splice	c.e17-1	p.A649_splice	DUOX2_ENST00000603300.1_Splice_Site_p.A649_splice			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	649					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCCACTCCATCGCTGGGGAAG	0.592000													16	54					0	0	0.004990	0	0
PKD1	5310	broad.mit.edu	37	16	2147915	2147915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2147915G>A	ENST00000262304.4	-	31	10329	c.10121C>T	c.(10120-10122)tCc>tTc	p.S3374F	PKD1_ENST00000423118.1_Missense_Mutation_p.S3374F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3374					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTCCAGCACGGACGAGTCCAG	0.697000													4	21					0	0	0.000248	0	0
STAB1	23166	broad.mit.edu	37	3	52547920	52547920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52547920G>A	ENST00000321725.6	+	32	3446	c.3370G>A	c.(3370-3372)Gat>Aat	p.D1124N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1124					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCCCGAGGGGATGTGCCCGG	0.627000													144	77					0	0	0.003610	0	0
PRKCA	5578	broad.mit.edu	37	17	64728899	64728899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64728899G>A	ENST00000413366.3	+	9	1038	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	338					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAAACTCACGGACTTCAATTT	0.473000													60	108					0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234677029	234677029	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234677029G>A	ENST00000360418.3	+	4	1248	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	UGT1A4_ENST00000373409.3_Silent_p.L417L|UGT1A5_ENST00000373414.3_Silent_p.L417L|UGT1A10_ENST00000344644.5_Silent_p.L413L|UGT1A1_ENST00000305208.5_Silent_p.L416L|UGT1A10_ENST00000373445.1_Silent_p.L413L|UGT1A6_ENST00000406651.1_Silent_p.L148L|UGT1A3_ENST00000482026.1_Silent_p.L417L|UGT1A9_ENST00000354728.4_Silent_p.L413L|UGT1A6_ENST00000373424.1_Silent_p.L148L|UGT1A7_ENST00000373426.3_Silent_p.L413L|UGT1A8_ENST00000373450.4_Silent_p.L413L|UGT1A6_ENST00000305139.6_Silent_p.L415L			P22309	UD11_HUMAN		416					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGAATGTTCTGGAAATGACTT	0.423000													33	41					0	0	0.001786	0	0
DNAH11	8701	broad.mit.edu	37	7	21788349	21788349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21788349C>T	ENST00000328843.6	+	53	8714	c.8683C>T	c.(8683-8685)Cag>Tag	p.Q2895*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.Q2888*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2895	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTATGGAATCCAGGAACTTCG	0.582000									Kartagener syndrome				14	30					0	0	0.004990	0	0
SPEG	10290	broad.mit.edu	37	2	220352924	220352924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220352924C>T	ENST00000312358.7	+	32	7882	c.7750C>T	c.(7750-7752)Cca>Tca	p.P2584S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2584	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGACTTCCCCCCAGTCTTCCA	0.617000													42	104					0	0	0.003610	0	0
SMC5	23137	broad.mit.edu	37	9	72874038	72874038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:72874038C>T	ENST00000361138.5	+	1	102	c.44C>T	c.(43-45)cCt>cTt	p.P15L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	15					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AGCCCCCAGCCTTCCAAGAGA	0.647000													9	24					0	0	0.006214	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203807111	203807111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:203807111C>T	ENST00000545588.1	+	10	4719	c.892C>T	c.(892-894)Cca>Tca	p.P298S	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P298S|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P298S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P298S|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P298S	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	298							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGTGATCCTCCATTAAAGCG	0.398000													34	57					0	0	0.006999	0	0
MUC2	4583	broad.mit.edu	37	11	1096416	1096416	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1096416G>A	ENST00000441003.2	+	34	6468	c.6441G>A	c.(6439-6441)gaG>gaA	p.E2147E	MUC2_ENST00000361558.6_Silent_p.E285E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4509						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCTGGTGGAGGAGATCAGCC	0.607000													20	89					0	0	0.001882	0	0
NFASC	23114	broad.mit.edu	37	1	204971868	204971868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204971868C>T	ENST00000367172.4	+	29	3930	c.3602C>T	c.(3601-3603)aCc>aTc	p.T1201I	NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.T1094I|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.T1078I|NFASC_ENST00000367170.4_Missense_Mutation_p.T1122I|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.T1094I|NFASC_ENST00000367171.4_Missense_Mutation_p.T1186I|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000539706.1_Intron			O94856	NFASC_HUMAN	neurofascin	1201	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTTTATGACCAGTACAGGT	0.547000													23	40					0	0	0.005443	0	0
CSMD3	114788	broad.mit.edu	37	8	114326951	114326951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:114326951C>T	ENST00000297405.5	-	2	494	c.250G>A	c.(250-252)Gga>Aga	p.G84R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G44R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G84R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G84R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	84	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGATATCCATATGGAAAA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	260					0	0	0.003610	0	0
SORD	6652	broad.mit.edu	37	15	45353347	45353347	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:45353347C>T	ENST00000267814.9	+	4	528	c.348C>T	c.(346-348)tcC>tcT	p.S116S	SORD_ENST00000558580.1_Silent_p.S95S	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	116					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TGTCACCTTCCATCTTCTTCT	0.517000													21	80					0	0	0.002299	0	0
AKAP4	8852	broad.mit.edu	37	X	49958661	49958661	+	Missense_Mutation	SNP	C	C	T	rs147442985		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49958661C>T	ENST00000376056.2	-	5	826	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.E235K|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.E226K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	235	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.E235K(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTTGATTTCCTTATGGGCC	0.458000													20	37					0	0	0.001523	0	0
ZNF823	55552	broad.mit.edu	37	19	11836079	11836079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11836079G>A	ENST00000341191.6	-	2	220	c.67C>T	c.(67-69)Cca>Tca	p.P23S	ZNF823_ENST00000440527.1_Missense_Mutation_p.P23S|ZNF823_ENST00000545749.1_5'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTGTGATGGACCCAGCAAA	0.463000										HNSCC(68;0.2)			22	57					0	0	0.003330	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411424	121411424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:121411424C>T	ENST00000393667.3	-	14	6897	c.6787G>A	c.(6787-6789)Gaa>Aaa	p.E2263K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2258K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2258					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGTCATGTTCAAGCCTGAAA	0.403000													18	48					0	0	0.006122	0	0
TCTE1	202500	broad.mit.edu	37	6	44253779	44253779	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44253779G>A	ENST00000371505.4	-	3	890	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TCTE1_ENST00000371503.3_Silent_p.F103F|TCTE1_ENST00000371504.1_Silent_p.F103F|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	256										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATTCCACTCGAAATTCATGC	0.582000													65	37					0	0	0.003610	0	0
ACMSD	130013	broad.mit.edu	37	2	135621190	135621190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:135621190C>T	ENST00000356140.5	+	5	611	c.475C>T	c.(475-477)Cct>Tct	p.P159S	ACMSD_ENST00000283054.4_Missense_Mutation_p.P101S|ACMSD_ENST00000392928.1_Missense_Mutation_p.P101S|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	159					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGAGCTCTTTCCTGTCTATGC	0.652000													16	33					0	0	0.004990	0	0
C9orf106	414318	broad.mit.edu	37	9	132084151	132084151	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:132084151C>T	ENST00000316786.1	+	0	112							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				GGCGAGGAAGcctgcagctcc	0.632000													7	22					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32472782	32472782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:32472782C>T	ENST00000357033.4	-	26	3806	c.3600G>A	c.(3598-3600)atG>atA	p.M1200I	DMD_ENST00000378677.2_Missense_Mutation_p.M1196I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1200					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				tttttACCTTCATCTCTTCAA	0.318000													5	2					0	0	0.000602	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695515	219695515	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219695515T>C	ENST00000439262.2	-	3	203	c.108A>G	c.(106-108)acA>acG	p.T36T	PRKAG3_ENST00000392098.3_Silent_p.T61T|PRKAG3_ENST00000529249.1_Silent_p.T61T|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	61					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCTGCCTTGTCCATCTCA	0.592000													55	72					0	0	0.003610	0	0
TK2	7084	broad.mit.edu	37	16	66545952	66545952	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:66545952G>A	ENST00000299697.7	-	10	1067	c.843C>T	c.(841-843)caC>caT	p.H281H	TK2_ENST00000544898.1_Silent_p.H190H|TK2_ENST00000564917.1_Silent_p.H256H|TK2_ENST00000545043.2_Silent_p.H214H|TK2_ENST00000451102.2_Silent_p.H239H|RP11-403P17.5_ENST00000561728.1_Intron|TK2_ENST00000525974.1_Silent_p.H142H|TK2_ENST00000417693.3_Silent_p.H221H|TK2_ENST00000527800.1_Silent_p.H142H|TK2_ENST00000563369.2_Silent_p.H142H|TK2_ENST00000527284.1_Silent_p.H208H	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	239					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCTCCATGTGGTGGTCAGCCT	0.483000													17	56					0	0	0.001216	0	0
POTEG	404785	broad.mit.edu	37	14	19553770	19553770	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:19553770C>T	ENST00000409832.3	+	1	406	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	118										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAAGTGGGCCCTTGGGGAG	0.597000													43	1023					0	0	0.007835	0	0
FAN1	22909	broad.mit.edu	37	15	31218060	31218060	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:31218060G>A	ENST00000362065.4	+	10	2697	c.2406G>A	c.(2404-2406)ggG>ggA	p.G802G	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	802					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGAGGCCGGGGAGGCCGCTG	0.582000								Direct reversal of damage					78	285					0	0	0.003610	0	0
POTEA	340441	broad.mit.edu	37	8	43147879	43147879	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:43147879C>T	ENST00000522175.2	+	0	254							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGATCTCATCGTCATGCTCA	0.612000													11	56					0	0	0.001855	0	0
GNLY	10578	broad.mit.edu	37	2	85923143	85923143	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:85923143C>T	ENST00000409696.3	+	4	456	c.174C>T	c.(172-174)gtC>gtT	p.V58V	GNLY_ENST00000524600.1_Silent_p.V100V|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000263863.4_Silent_p.V73V	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	73					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TGACGATAGTCCAAAAACTGA	0.552000													16	23					0	0	0.002299	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:52603882C>T	ENST00000395489.2	-	6	475	c.78_splice	c.e6-1	p.E27_splice	A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice|A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000													13	1					0	0	0.003163	0	0
LILRA2	11027	broad.mit.edu	37	19	55086778	55086778	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55086778G>A	ENST00000251377.3	+	6	844	c.711G>A	c.(709-711)ggG>ggA	p.G237G	LILRA2_ENST00000391738.3_Silent_p.G237G|LILRA2_ENST00000251376.3_Silent_p.G237G|LILRA2_ENST00000391737.1_Silent_p.G225G|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGGCCCCCGGGGAGAGCCTGA	0.567000													22	88					0	0	0.003954	0	0
USH2A	7399	broad.mit.edu	37	1	216062114	216062114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:216062114C>T	ENST00000366943.2	-	41	8263	c.7877G>A	c.(7876-7878)gGg>gAg	p.G2626E	USH2A_ENST00000307340.3_Missense_Mutation_p.G2626E|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2626	Fibronectin type-III 13.				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)		ACTTGGGATCCCTTCCGGTGC	0.493000										HNSCC(13;0.011)			10	8					0	0	0.006214	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904075	56904075	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:56904075C>T	ENST00000438926.2	+	5	698	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC12A3_ENST00000566786.1_Silent_p.F222F|SLC12A3_ENST00000262502.5_Silent_p.F222F|SLC12A3_ENST00000563236.1_Silent_p.F223F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	223					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTCATTTTCGCTTTCGCCA	0.642000													16	68					0	0	0.004007	0	0
KNG1	3827	broad.mit.edu	37	3	186437937	186437937	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186437937A>T	ENST00000265023.4	+	2	451	c.239A>T	c.(238-240)gAg>gTg	p.E80V	KNG1_ENST00000447445.1_Missense_Mutation_p.E80V|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.E80V	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	80	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GAAATCAAGGAGGGGGATTGT	0.448000													24	77					0	0	0.001512	0	0
PSMA8	143471	broad.mit.edu	37	18	23713976	23713976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:23713976G>A	ENST00000308268.6	+	1	136	c.47G>A	c.(46-48)gGa>gAa	p.G16E	PSMA8_ENST00000415576.2_Missense_Mutation_p.G16E|PSMA8_ENST00000343848.6_Missense_Mutation_p.G16E	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	16					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TCCCCAGACGGACACCTTTTT	0.562000													37	72					0	0	0.001951	0	0
R3HDM1	23518	broad.mit.edu	37	2	136473261	136473261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:136473261C>T	ENST00000264160.4	+	23	3143	c.2773C>T	c.(2773-2775)Caa>Taa	p.Q925*	R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.Q870*|R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.Q926*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.Q797*|R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.Q796*	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	925							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGTCCCCGGGCAAGGTAAGTG	0.453000													47	36					0	0	0.003610	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960628	73960628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73960628C>T	ENST00000373468.1	-	3	4415	c.3764G>A	c.(3763-3765)gGg>gAg	p.G1255E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1255E			Q5QGS0	K2022_HUMAN	KIAA2022	1255					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAATGTCTTCCCAGTGGAGGA	0.493000													7	9					0	0	0.001984	0	0
PSD2	84249	broad.mit.edu	37	5	139193050	139193050	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:139193050C>T	ENST00000274710.3	+	3	733	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCAGCTTCGAGGCCCCCC	0.657000													18	36					0	0	0.006122	0	0
EML5	161436	broad.mit.edu	37	14	89178746	89178746	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:89178746T>A	ENST00000554922.1	-	10	1774	c.1526A>T	c.(1525-1527)aAt>aTt	p.N509I	EML5_ENST00000352093.5_Missense_Mutation_p.N509I|EML5_ENST00000380664.5_Missense_Mutation_p.N509I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	509						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAATTCCATTTACTTCAAG	0.348000													4	15					0	0	0.000602	0	0
PHF20	51230	broad.mit.edu	37	20	34501993	34501993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34501993G>A	ENST00000374012.3	+	12	1828	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CACCTCCCAGGAACCTTCTCC	0.522000													16	43					0	0	0.004990	0	0
ACAN	176	broad.mit.edu	37	15	89414673	89414673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:89414673C>T	ENST00000439576.2	+	14	7381	c.7007C>T	c.(7006-7008)cCg>cTg	p.P2336L	ACAN_ENST00000352105.7_Missense_Mutation_p.P2298L|ACAN_ENST00000561243.1_Missense_Mutation_p.P2336L|ACAN_ENST00000559004.1_Missense_Mutation_p.P2298L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2336					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGCCACTTCCCGGACCGCGAG	0.627000													24	37					0	0	0.003330	0	0
GABRG3	2567	broad.mit.edu	37	15	27725917	27725917	+	Silent	SNP	C	C	T	rs77771286	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:27725917C>T	ENST00000333743.6	+	6	950	c.696C>T	c.(694-696)atC>atT	p.I232I	GABRG3_ENST00000555083.1_Silent_p.I232I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	232					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACAGAAATCGTGACAACGT	0.443000													5	16					0	0	0.001168	0	0
APOBEC1	339	broad.mit.edu	37	12	7803718	7803718	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7803718C>T	ENST00000229304.4	-	4	482	c.462G>A	c.(460-462)agG>agA	p.R154R		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	154					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	p.R154S(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGACAAAATTCCTCCAGCAGT	0.448000													58	32					0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129674449	129674449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:129674449G>A	ENST00000421865.2	+	32	4713	c.4664G>A	c.(4663-4665)aGg>aAg	p.R1555K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1555	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCACGGGAAGGAAGTGTGAC	0.557000													21	31					0	0	0.002780	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449792	85449792	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:85449792C>A	ENST00000393217.2	+	8	1282	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	407										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATATAATAACAAACATTTAA	0.318000													110	75					8.62921e-31	1.75039e-30	0.003610	1	0
ELK1	2002	broad.mit.edu	37	X	47497358	47497358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47497358G>A	ENST00000247161.3	-	4	977	c.878C>T	c.(877-879)aCc>aTc	p.T293I	ELK1_ENST00000376983.3_Missense_Mutation_p.T293I|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.T239I	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	293					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CTGCCCTGCGGTGTCCATAAC	0.692000													19	5					0	0	0.006122	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182872188	182872188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:182872188C>T	ENST00000367547.3	-	9	1932	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.G447R	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	638										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATATTAACTCCACCTAAGGTG	0.303000													62	81					0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48391796	48391796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:48391796C>T	ENST00000435803.1	+	31	10424	c.10400C>T	c.(10399-10401)tCc>tTc	p.S3467F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3467					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCAATTCCTTATTCGAC	0.463000													23	21					0	0	0.003954	0	0
TSC22D4	81628	broad.mit.edu	37	7	100074934	100074934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100074934C>T	ENST00000300181.2	-	2	1482	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	TSC22D4_ENST00000393991.1_Missense_Mutation_p.R4Q|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	243					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACTCCATCCGCAGCCGCAT	0.642000													30	114					0	0	0.003755	0	0
BTBD17	388419	broad.mit.edu	37	17	72352879	72352879	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72352879A>T	ENST00000375366.3	-	3	1480	c.1354T>A	c.(1354-1356)Tcc>Acc	p.S452T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	452						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						AGGTACTCGGAGTTGCGCCGC	0.662000													70	43					0	0	0.003610	0	0
TRGV8	6982	broad.mit.edu	37	7	38370115	38370115	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:38370115G>A	ENST00000390343.2	-	0	296																											GACGCTGTGGGGCCTTCCCCT	0.493000													28	36					0	0	0.001786	0	0
CRB1	23418	broad.mit.edu	37	1	197390900	197390900	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:197390900A>G	ENST00000367397.1	+	2	943	c.85A>G	c.(85-87)Att>Gtt	p.I29V	CRB1_ENST00000535699.1_Missense_Mutation_p.I579V|CRB1_ENST00000544212.1_Missense_Mutation_p.I129V|CRB1_ENST00000367399.2_Missense_Mutation_p.I536V|CRB1_ENST00000538660.1_Missense_Mutation_p.I648V|CRB1_ENST00000367400.3_Missense_Mutation_p.I648V|CRB1_ENST00000543483.1_Silent_p.K277K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	648					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGACATTAAAATTGATTGGAA	0.438000													39	50					0	0	0.006999	0	0
COL7A1	1294	broad.mit.edu	37	3	48615934	48615934	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48615934G>A	ENST00000328333.8	-	63	5546	c.5439C>T	c.(5437-5439)ctC>ctT	p.L1813L	COL7A1_ENST00000454817.1_Silent_p.L1813L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1813	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTTCTCCACGGAGGCCTGGAA	0.552000													39	89					0	0	0.002852	0	0
TRIM67	440730	broad.mit.edu	37	1	231342409	231342409	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:231342409C>T	ENST00000444294.3	+	7	2544	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	TRIM67_ENST00000449018.3_Silent_p.V502V|TRIM67_ENST00000366652.2_Silent_p.V564V|TRIM67_ENST00000366653.5_Silent_p.V564V	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	564	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				AAGTGTACGTCGGTAAGGAGA	0.478000													11	27					0	0	0.001368	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955459	18955459	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18955459G>A	ENST00000302797.3	-	1	1097	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	291					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCCCTCTGGAGAACCAGCT	0.542000													24	85					0	0	0.003954	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433159	72433159	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:72433159A>T	ENST00000373517.3	-	1	1525	c.1170T>A	c.(1168-1170)ttT>ttA	p.F390L	NAP1L2_ENST00000536638.1_Missense_Mutation_p.F248L	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	390					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GACCAAGTAAAAAATCATCAT	0.373000													38	26					0	0	0.004289	0	0
SUCO	51430	broad.mit.edu	37	1	172501852	172501852	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:172501852G>A	ENST00000367723.3	+	1	364	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ATTCTAGGAGGGACTGGGAAA	0.502000													16	79					0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38939400	38939400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38939400G>A	ENST00000359357.3	+	81	12087	c.11833G>A	c.(11833-11835)Gaa>Aaa	p.E3945K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3909K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E4162K					dynein, axonemal, heavy chain 8									p.E3945K(1)		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						GCAAGGACAAGAAGTACATGC	0.403000													13	34					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9546761	9546761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9546761C>T	ENST00000378429.3	-	6	1807	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N	PAK7_ENST00000378423.1_Missense_Mutation_p.D421N|PAK7_ENST00000353224.5_Missense_Mutation_p.D421N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	421	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.D421N(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTGCTGGTCGGAGGAGGAG	0.627000													6	53					0	0	0.001168	0	0
KRT6B	3854	broad.mit.edu	37	12	52845482	52845482	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52845482G>A	ENST00000252252.3	-	1	428	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	127	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGCACACAGGGAAGCCAGGGC	0.647000													33	40					0	0	0.003271	0	0
PAK7	57144	broad.mit.edu	37	20	9547019	9547019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9547019G>A	ENST00000378429.3	-	6	1549	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	335	Linker.		R -> P (in dbSNP:rs11700112).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537000													29	83					0	0	0.007291	0	0
GPR98	84059	broad.mit.edu	37	5	89969925	89969925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:89969925C>T	ENST00000405460.2	+	23	5080	c.4984C>T	c.(4984-4986)Cgt>Tgt	p.R1662C	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1662	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAGTATTTCCGTGTGACATT	0.388000													6	19					0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503286	110503286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:110503286G>A	ENST00000378402.5	+	61	10174	c.10070G>A	c.(10069-10071)gGa>gAa	p.G3357E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3357					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)			GGGACAGATGGATTGGACATA	0.388000										HNSCC(38;0.096)			25	93					0	0	0.001512	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854444	18854444	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18854444C>T	ENST00000266505.7	-	9	1271	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	PLCZ1_ENST00000447925.2_Silent_p.K334K|PLCZ1_ENST00000435379.1_Silent_p.K141K|PLCZ1_ENST00000541695.1_Silent_p.K199K|PLCZ1_ENST00000539875.1_Silent_p.K143K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Silent_p.K118K			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	336					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTTCTTTTTCTTGAAAAGCA	0.313000													7	13					0	0	0.004482	0	0
CACNA1H	8912	broad.mit.edu	37	16	1268001	1268001	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1268001C>T	ENST00000348261.5	+	32	5654	c.5406C>T	c.(5404-5406)ttC>ttT	p.F1802F	CACNA1H_ENST00000565831.1_Silent_p.F1796F|CACNA1H_ENST00000358590.4_Silent_p.F1796F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1802					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCACGCTGTTCCGCGTGTCCA	0.652000													6	8					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179484958	179484958	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179484958G>A	ENST00000589042.1	-	248	46514	c.46290C>T	c.(46288-46290)atC>atT	p.I15430I	TTN_ENST00000591111.1_Silent_p.I13789I|TTN_ENST00000342992.6_Silent_p.I12862I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I6490I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.I6365I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.I6557I|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13789	Fibronectin type-III 12.						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)			TGCCTTCTTTGATTTCTCTCC	0.388000													3	0					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228451839	228451839	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:228451839G>A	ENST00000570156.2	+	18	5234	c.5160G>A	c.(5158-5160)aaG>aaA	p.K1720K	OBSCN_ENST00000359599.6_Silent_p.K192K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.K1536K|OBSCN_ENST00000422127.1_Silent_p.K1536K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	706					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTTTGCCAAGGAGCAGCCAG	0.657000													23	47					0	0	0.003330	0	0
MTUS2	23281	broad.mit.edu	37	13	29933610	29933610	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:29933610G>A	ENST00000431530.3	+	6	3205	c.3147_splice	c.e6+1	p.K1049_splice		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1039	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTAGAAAGGTGAGGCCCC	0.547000													8	13					0	0	0.003080	0	0
AGAP2	116986	broad.mit.edu	37	12	58122118	58122118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58122118C>T	ENST00000547588.1	-	14	2599	c.2600G>A	c.(2599-2601)aGa>aAa	p.R867K	AGAP2-AS1_ENST00000542466.2_3'UTR|AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	867	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATAAATATTTCTTAAACTACC	0.522000													14	36					0	0	0.004007	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	G	A	rs140313224		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11666863G>A	ENST00000262442.3	+	36	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2368K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCCTAAGGAAATTTATGA	0.493000													29	66					0	0	0.001512	0	0
ADAM21	8747	broad.mit.edu	37	14	70925121	70925121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70925121C>T	ENST00000603540.1	+	2	1163	c.905C>T	c.(904-906)tCa>tTa	p.S302L	ADAM21_ENST00000267499.3_Missense_Mutation_p.S302L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	302	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.S302*(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATAAAAAATTCACTTATAAGT	0.383000													21	83					0	0	0.003330	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922086	159922086	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159922086A>G	ENST00000368093.3	-	3	746	c.630T>C	c.(628-630)agT>agC	p.S210S	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	210	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGCAAGAACTGACGTTGC	0.577000													46	48					0	0	0.003610	0	0
IDH3G	3421	broad.mit.edu	37	X	153055697	153055697	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153055697C>T	ENST00000370092.3	-	4	371	c.186G>A	c.(184-186)ggG>ggA	p.G62G	IDH3G_ENST00000217901.5_Silent_p.G62G|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Silent_p.G4G|IDH3G_ENST00000370093.1_Silent_p.G62G	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	62					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CGATGCCATCCCCTGGGATCA	0.652000													31	66					0	0	0.002445	0	0
APOA4	337	broad.mit.edu	37	11	116691667	116691667	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:116691667G>A	ENST00000357780.3	-	3	1221	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCAGGGAGGGAGAGAGTCT	0.587000													150	379					0	0	0.003610	0	0
NLRC3	197358	broad.mit.edu	37	16	3614227	3614227	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3614227C>T	ENST00000301749.7	-	0	1116				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTTTGGGTCCGTGCAGGCCA	0.617000													5	27					0	0	0.000602	0	0
HTT	3064	broad.mit.edu	37	4	3235075	3235075	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:3235075C>T	ENST00000355072.5	+	61	8596	c.8451C>T	c.(8449-8451)atC>atT	p.I2817I	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2817					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAAGGGATCGCCCAGTGAG	0.622000													44	53					0	0	0.002522	0	0
SH2B1	25970	broad.mit.edu	37	16	28883219	28883219	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:28883219C>T	ENST00000337120.5	+	5	4719	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.I476I|SH2B1_ENST00000322610.8_Silent_p.I476I|SH2B1_ENST00000545570.1_Silent_p.I166I|SH2B1_ENST00000359285.5_Silent_p.I476I|SH2B1_ENST00000538342.1_Silent_p.I140I	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	476	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCCCGCATCCCCATTGAAG	0.627000													28	25					0	0	0.007291	0	0
MTTP	4547	broad.mit.edu	37	4	100540131	100540131	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100540131G>A	ENST00000457717.1	+	17	2474	c.2217_splice	c.e17-1	p.E740_splice	MTTP_ENST00000265517.5_Splice_Site_p.E740_splice|MTTP_ENST00000511045.1_Splice_Site_p.E767_splice|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	740					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTTCTTCTAGGAACTTCAGTT	0.363000													14	12					0	0	0.002450	0	0
LMO1	4004	broad.mit.edu	37	11	8248556	8248556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8248556G>A	ENST00000335790.3	-	3	826	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	LMO1_ENST00000428101.2_Missense_Mutation_p.L110F|LMO1_ENST00000534484.1_Missense_Mutation_p.L100F	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	111	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AAGCAGTCGAGGTGATACACG	0.637000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							15	19					0	0	0.003163	0	0
RTN3	10313	broad.mit.edu	37	11	63487655	63487655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:63487655G>A	ENST00000377819.5	+	3	1835	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D449N|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D542N|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	561					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATTGGTCAGTGACTCTGAGCT	0.408000													22	48					0	0	0.002780	0	0
OR4K2	390431	broad.mit.edu	37	14	20345323	20345323	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20345323G>A	ENST00000298642.2	+	1	933	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGCCATGAGGAAACTGAAAA	0.343000													9	46					0	0	0.000673	0	0
COL4A4	1286	broad.mit.edu	37	2	227917034	227917034	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:227917034G>A	ENST00000396625.3	-	32	3162	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	COL4A4_ENST00000329662.7_Silent_p.F985F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	985	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTCTCCTGGGAATCCATCAT	0.428000													21	38					0	0	0.002780	0	0
FIBIN	387758	broad.mit.edu	37	11	27016390	27016390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:27016390C>T	ENST00000318627.2	+	1	763	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	106						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AAAAGCATCTCCTACGACCTA	0.632000													19	33					0	0	0.001216	0	0
NLRC5	84166	broad.mit.edu	37	16	57054814	57054814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:57054814C>T	ENST00000436936.1	+	3	415	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q64*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q64*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q64*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	64					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGCATGTCCAGGGTTCGGA	0.532000													22	16					0	0	0.002299	0	0
PAPPA	5069	broad.mit.edu	37	9	118982356	118982356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:118982356G>A	ENST00000328252.3	+	5	2428	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	687					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCACACAACGGACTCTGTGAC	0.567000													26	21					0	0	0.001786	0	0
C1orf95	375057	broad.mit.edu	37	1	226788372	226788372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:226788372C>T	ENST00000366788.3	+	3	493	c.388C>T	c.(388-390)Caa>Taa	p.Q130*	C1orf95_ENST00000366789.4_Intron	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	130						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TGCAGTTTCCCAAGGTGAGTC	0.617000													42	61					0	0	0.003610	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202153479	202153479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:202153479C>T	ENST00000405148.2	-	15	1680	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E390K|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E413K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E390K	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	413					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TCACAAATTTCTTCATTCTTA	0.368000													16	50					0	0	0.004007	0	0
LZTR1	8216	broad.mit.edu	37	22	21340172	21340172	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21340172C>T	ENST00000215739.8	+	3	665	c.306C>T	c.(304-306)gaC>gaT	p.D102D	LZTR1_ENST00000389355.3_Intron|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	102					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATGTGAAAGACTGCTCCTGGT	0.592000													10	48					0	0	0.001368	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930179	45930179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:45930179G>A	ENST00000275525.3	+	2	678	c.382G>A	c.(382-384)Gag>Aag	p.E128K	IGFBP1_ENST00000468955.1_Missense_Mutation_p.E128K|IGFBP1_ENST00000457280.1_Missense_Mutation_p.E128K	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	128						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						AGAGAGCACGGAGATAACTGA	0.557000													48	65					0	0	0.003610	0	0
WNT7A	7476	broad.mit.edu	37	3	13860547	13860547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:13860547G>A	ENST00000285018.4	-	4	1248	c.944C>T	c.(943-945)aCc>aTc	p.T315I		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	315					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GTACTGGTGGGTGTTGTAGCC	0.642000													23	19					0	0	0.003330	0	0
ASXL2	55252	broad.mit.edu	37	2	25966040	25966040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:25966040C>T	ENST00000435504.4	-	13	3459	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.E1028K|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1056					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTAGTCCTTCGTGGTATTGG	0.507000													38	15					0	0	0.005524	0	0
GAD1	2571	broad.mit.edu	37	2	171702532	171702532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:171702532C>T	ENST00000358196.3	+	10	1511	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	321					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAAAATAATTCCAGCTGATTT	0.358000													10	33					0	0	0.001855	0	0
FOXL1	2300	broad.mit.edu	37	16	86613236	86613236	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:86613236A>T	ENST00000320241.3	+	1	1122	c.907A>T	c.(907-909)Agc>Tgc	p.S303C		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	303					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGCCTCCTCCAGCCTCCGTCC	0.662000													19	11					0	0	0.002299	0	0
TFEC	22797	broad.mit.edu	37	7	115580841	115580841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:115580841C>T	ENST00000265440.7	-	8	988	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	TFEC_ENST00000457268.1_Missense_Mutation_p.G203R|TFEC_ENST00000320239.7_Missense_Mutation_p.G241R|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	270						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGGCTTGGCCCCTGAGACACA	0.448000													36	56					0	0	0.004289	0	0
ST18	9705	broad.mit.edu	37	8	53084727	53084727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:53084727C>T	ENST00000276480.7	-	10	1377	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCAGGAACTTCCAATAGGTCT	0.413000													42	63					0	0	0.006230	0	0
OR1I1	126370	broad.mit.edu	37	19	15198154	15198154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15198154C>T	ENST00000209540.2	+	1	364	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						AGAGCCATCCCCTTTGTGGGC	0.547000													28	30					0	0	0.002445	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607508	55607508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55607508G>A	ENST00000263433.3	-	8	1079	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S355F|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S281F	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	355						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GTCCTGGAGGGAAATCTTCTC	0.682000													20	57					0	0	0.003330	0	0
BMPER	168667	broad.mit.edu	37	7	34192882	34192882	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:34192882G>A	ENST00000297161.2	+	16	2429	c.2055G>A	c.(2053-2055)cgG>cgA	p.R685R	BMPER_ENST00000426693.1_Silent_p.R685R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	685					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCCCCAGCGGTGACCTTTGT	0.512000													11	44					0	0	0.001368	0	0
PTPRN	5798	broad.mit.edu	37	2	220161810	220161810	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220161810C>T	ENST00000295718.2	-	15	2373	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	PTPRN_ENST00000423636.2_Silent_p.K621K|PTPRN_ENST00000409251.3_Silent_p.K682K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	711	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCTGCCACTCCTTGGCAAGGC	0.637000													29	46					0	0	0.003271	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94913509	94913509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:94913509C>T	ENST00000289495.5	+	15	3572	c.3356C>T	c.(3355-3357)tCa>tTa	p.S1119L	PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S1159L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S1137L|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S1137L	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	913						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTCTAATTTCAGATAAAAAG	0.438000										HNSCC(28;0.073)			6	14					0	0	0.003080	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696594	150696594	+	Silent	SNP	G	G	A	rs139985763	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:150696594G>A	ENST00000335244.4	-	10	1365	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	SLC36A2_ENST00000450886.1_Silent_p.S136S	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	412					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCACTCACGGAGCCCACCA	0.637000													10	7					0	0	0.000978	0	0
CDH18	1016	broad.mit.edu	37	5	19591301	19591301	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:19591301C>T	ENST00000507958.1	-	9	1854	c.864G>A	c.(862-864)ggG>ggA	p.G288G	CDH18_ENST00000382275.1_Silent_p.G288G|CDH18_ENST00000274170.4_Silent_p.G288G|CDH18_ENST00000511273.1_Silent_p.G288G|CDH18_ENST00000506372.1_Silent_p.G288G|CDH18_ENST00000502796.1_Silent_p.G288G			Q13634	CAD18_HUMAN	cadherin 18, type 2	288	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTGATTTTCCCAACAGCTG	0.383000													5	10					0	0	0.000602	0	0
HTR3C	170572	broad.mit.edu	37	3	183777411	183777411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:183777411G>A	ENST00000318351.1	+	7	942	c.908G>A	c.(907-909)aGt>aAt	p.S303N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	303						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCCCTGCCAGTGGCACCCCC	0.587000													29	64					0	0	0.002836	0	0
PDE4A	5141	broad.mit.edu	37	19	10568682	10568682	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10568682C>T	ENST00000380702.2	+	9	939	c.939C>T	c.(937-939)atC>atT	p.I313I	PDE4A_ENST00000344979.3_Silent_p.I96I|PDE4A_ENST00000352831.6_Silent_p.I335I|PDE4A_ENST00000293683.5_Silent_p.I309I|PDE4A_ENST00000592685.1_Silent_p.I313I|PDE4A_ENST00000440014.2_Silent_p.I274I			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	335					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGTCCCAAATCACAGGGTTGA	0.547000													34	107					0	0	0.003755	0	0
MEI1	150365	broad.mit.edu	37	22	42149986	42149986	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:42149986C>T	ENST00000401548.3	+	17	1927	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	MEI1_ENST00000540833.1_Silent_p.F369F|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540880.1_Intron|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	629							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCCAATTTCCTCTACTATA	0.458000													55	30					0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118199028	118199028	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:118199028G>A	ENST00000425217.1	-	4	741	c.687C>T	c.(685-687)gtC>gtT	p.V229V	KSR2_ENST00000339824.5_Silent_p.V258V	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	258	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGGGTGCGGACCGCGTGCC	0.736000													58	107					0	0	0.003610	0	0
IGSF5	150084	broad.mit.edu	37	21	41165499	41165499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:41165499G>A	ENST00000380588.4	+	8	1190	c.1087G>A	c.(1087-1089)Gat>Aat	p.D363N		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	363						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGAATCCAGTGATCCTGAACA	0.423000													44	53					0	0	0.003610	0	0
SPEF2	79925	broad.mit.edu	37	5	35709050	35709050	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:35709050T>C	ENST00000440995.2	+	19	2651	c.2650_splice	c.e19-1	p.V884_splice	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site_p.V889_splice|SPEF2_ENST00000509059.1_Splice_Site_p.V884_splice			Q9C093	SPEF2_HUMAN	sperm flagellar 2	889					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTGAAGTTGAGAAGAAA	0.378000													9	8					0	0	0.000978	0	0
CECR2	27443	broad.mit.edu	37	22	18022354	18022354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:18022354G>A	ENST00000262608.8	+	15	2459	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	CECR2_ENST00000400585.2_Missense_Mutation_p.R678Q|CECR2_ENST00000400573.4_Missense_Mutation_p.R819Q	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	861					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGTACATGCGACCGCCCTGC	0.592000													16	73					0	0	0.004990	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522639	41522639	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:41522639C>T	ENST00000324071.4	+	9	1390	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	CYP2B6_ENST00000330446.5_Silent_p.S261S|CYP2B6_ENST00000593831.1_Silent_p.S225S	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	461					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCATGGCCAGCCCCGTGGCCC	0.582000													12	14					0	0	0.001855	0	0
HBG1	3047	broad.mit.edu	37	11	5270611	5270611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5270611G>A	ENST00000330597.3	-	2	389	c.302C>T	c.(301-303)cCt>cTt	p.P101L		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	101					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTTCTCAGGATCCACATG	0.517000													4	2					0	0	0.003080	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337101	99337101	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:99337101C>T	ENST00000376503.5	-	23	2059	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	668					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGTATAGAACCGAGCCATGA	0.433000													6	11					0	0	0.001168	0	0
SYTL2	54843	broad.mit.edu	37	11	85459355	85459355	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:85459355G>A	ENST00000316356.4	-	3	777	c.213C>T	c.(211-213)atC>atT	p.I71I	SYTL2_ENST00000528231.1_Silent_p.I71I|SYTL2_ENST00000527523.1_Silent_p.I23I|SYTL2_ENST00000524452.1_Silent_p.I71I|SYTL2_ENST00000389960.4_Silent_p.I71I			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	71					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATGCTCTGATGATATCTGCGC	0.458000													24	12					0	0	0.004656	0	0
PTPRD	5789	broad.mit.edu	37	9	8518238	8518238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:8518238G>A	ENST00000381196.4	-	18	1696	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	PTPRD_ENST00000540109.1_Missense_Mutation_p.P385S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P372S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P382S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P372S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P385S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P385S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P375S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P382S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P375S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P385S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	385	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCGAGTAGGGACTTAGTCCA	0.463000										TSP Lung(15;0.13)			9	12					0	0	0.000673	0	0
ABRA	137735	broad.mit.edu	37	8	107773477	107773477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:107773477C>T	ENST00000311955.3	-	2	988	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	312					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.D312N(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AAGCACATGTCCATCATTTCC	0.488000													44	41					0	0	0.001951	0	0
CDRT15	146822	broad.mit.edu	37	17	14140101	14140101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:14140101C>T	ENST00000420162.2	-	1	65	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CDRT15_ENST00000431716.2_5'UTR	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	17										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CTCACTCCCTCCATTCCTGAA	0.567000													7	18					0	0	0.003080	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476041	7476041	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:7476041G>A	ENST00000579777.1	+	0	1952					NR_037926.1																						ACGTCATGCCGAGTTGCTGAG	0.657000													7	23					0	0	0.003080	0	0
CFP	5199	broad.mit.edu	37	X	47485869	47485869	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47485869C>T	ENST00000247153.3	-	8	1231	c.990G>A	c.(988-990)cgG>cgA	p.R330R	CFP_ENST00000377005.2_Silent_p.R330R|CFP_ENST00000396992.3_Silent_p.R330R	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	330	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ACTTCATGTTCCGTCGGATAC	0.612000													16	32					0	0	0.004007	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147348	161147348	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:161147348G>A	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TTCAGCTTTAGGAGGGGCAGG	0.463000													9	46					0	0	0.002450	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823675	45823675	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:45823675C>T	ENST00000358525.4	-	2	277	c.162G>A	c.(160-162)gaG>gaA	p.E54E	SLC6A20_ENST00000353278.4_Silent_p.E54E|SLC6A20_ENST00000456124.2_Silent_p.E54E	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	54					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCGGCATTCCCTCCACGATAA	0.597000													16	28					0	0	0.006122	0	0
OR6C75	390323	broad.mit.edu	37	12	55759518	55759518	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:55759518C>T	ENST00000343399.3	+	1	624	c.624C>T	c.(622-624)acC>acT	p.T208T		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGATGGTCACCTTGACATTAG	0.408000													3	7					0	0	0.000248	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080932	148080932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:148080932C>T	ENST00000361727.3	+	22	4183	c.3667C>T	c.(3667-3669)Ccc>Tcc	p.P1223S	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P282S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1223					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACCCTCTCCCCCATGTCGTC	0.602000										HNSCC(39;0.1)			10	37					0	0	0.002450	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537985	27537985	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:27537985C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGACTGCACCAGTGAATCC	0.502000													140	11					0	0	0.003610	0	0
ACKR2	1238	broad.mit.edu	37	3	42906672	42906672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:42906672G>A	ENST00000422265.1	+	3	853	c.678G>A	c.(676-678)atG>atA	p.M226I	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.M226I|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.M226I|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TCCTTGCCATGATCTTCTTCT	0.567000													35	88					0	0	0.004878	0	0
PADI4	23569	broad.mit.edu	37	1	17664611	17664611	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17664611G>T	ENST00000375448.4	+	5	513	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	163					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CGAATCTTCTGCCATGGACTG	0.527000													37	34					4.62619e-21	9.3577e-21	0.004289	1	0
FAM47A	158724	broad.mit.edu	37	X	34148572	34148572	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:34148572G>A	ENST00000346193.3	-	1	1875	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	608										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAATTCACGGAGTTTTTCCG	0.448000													58	36					0	0	0.003610	0	0
RAPH1	65059	broad.mit.edu	37	2	204305456	204305456	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:204305456G>T	ENST00000319170.5	-	14	2756	c.2457C>A	c.(2455-2457)ttC>ttA	p.F819L	RAPH1_ENST00000374493.3_Missense_Mutation_p.F871L|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	819					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGAAGCAGGGAAAGCTGGCT	0.577000													7	13					1.26484e-09	2.54334e-09	0.003080	1	0
LAMP1	3916	broad.mit.edu	37	13	113965172	113965172	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113965172C>T	ENST00000332556.4	+	4	746	c.552C>T	c.(550-552)ttC>ttT	p.F184F	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	184	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACAGCAGCTTCAGCCGGGGAG	0.577000													36	25					0	0	0.007835	0	0
VWA3B	200403	broad.mit.edu	37	2	98846544	98846544	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98846544A>G	ENST00000477737.1	+	16	2386	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	728										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATGATTTCAACCCCAGAAAA	0.378000													27	75					0	0	0.002836	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140559171C>T	ENST00000239444.2	+	1	1801	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.687000													41	93					0	0	0.003610	0	0
JAM2	58494	broad.mit.edu	37	21	27086951	27086951	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:27086951G>A	ENST00000480456.1	+	10	1414		c.e10-1		JAM2_ENST00000425221.2_Splice_Site|JAM2_ENST00000477351.1_Splice_Site|JAM2_ENST00000312957.5_Splice_Site	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2						blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TCTTTTCCTAGGATTTCAAGC	0.259000													29	2					0	0	0.002096	0	0
MRPL23	6150	broad.mit.edu	37	11	1977613	1977613	+	Missense_Mutation	SNP	C	C	T	rs140352683	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1977613C>T	ENST00000397298.3	+	5	510	c.425C>T	c.(424-426)cCg>cTg	p.P142L	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.P142L	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	142					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGCAGCGACCCGCGGCGGGGC	0.706000													38	17					0	0	0.002222	0	0
PTK7	5754	broad.mit.edu	37	6	43109934	43109934	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:43109934C>T	ENST00000230419.4	+	13	2165	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Silent_p.S608S|PTK7_ENST00000349241.2_Silent_p.S518S|PTK7_ENST00000481273.1_Silent_p.S656S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	648	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGAATGGCTCCCTGGTGATCC	0.632000													53	25					0	0	0.003610	0	0
PELP1	27043	broad.mit.edu	37	17	4576309	4576309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:4576309G>A	ENST00000269230.7	-	19	1934	c.1709C>T	c.(1708-1710)cCt>cTt	p.P570L	PELP1_ENST00000574876.1_Silent_p.P659P|PELP1_ENST00000572293.1_Silent_p.P709P|PELP1_ENST00000436683.2_Silent_p.P512P|PELP1_ENST00000301396.4_Silent_p.P803P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	633					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGCCCTGAAGGGCGATGGGG	0.706000													26	67					0	0	0.007291	0	0
OR51S1	119692	broad.mit.edu	37	11	4869964	4869964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4869964G>A	ENST00000322101.2	-	1	550	c.475C>T	c.(475-477)Cga>Tga	p.R159*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGGCATCGAAAAGAAATG	0.542000													13	19					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57327691G>A	ENST00000326441.9	-	10	2482	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H583Y|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H581Y|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H707Y|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000													9	11					0	0	0.004482	0	0
NEB	4703	broad.mit.edu	37	2	152506828	152506828	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:152506828C>T	ENST00000397345.3	-	54	7495	c.7293G>A	c.(7291-7293)gaG>gaA	p.E2431E	NEB_ENST00000604864.1_Silent_p.E2431E|NEB_ENST00000603639.1_Silent_p.E2431E|NEB_ENST00000427231.2_Silent_p.E2431E|NEB_ENST00000409198.1_Silent_p.E2431E|NEB_ENST00000172853.10_Silent_p.E2431E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2431					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTTTCTGCCTCTAAAGAAC	0.448000													5	19					0	0	0.000602	0	0
OPHN1	4983	broad.mit.edu	37	X	67426472	67426472	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:67426472C>T	ENST00000355520.5	-	10	1517	c.876G>A	c.(874-876)gaG>gaA	p.E292E	OPHN1_ENST00000540071.1_Silent_p.E292E	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	292	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGGTCTCTTTCTCATACTGGC	0.413000													18	36					0	0	0.001216	0	0
ERN1	2081	broad.mit.edu	37	17	62132154	62132154	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:62132154A>T	ENST00000433197.2	-	14	1802	c.1707T>A	c.(1705-1707)atT>atA	p.I569I		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	569					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GACAGAAGGAAATTTTCCCAA	0.488000													10	12					0	0	0.001368	0	0
SMPD3	55512	broad.mit.edu	37	16	68405008	68405008	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:68405008G>A	ENST00000219334.5	-	3	1680	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	SMPD3_ENST00000563226.1_Silent_p.F359F|SMPD3_ENST00000568373.1_Silent_p.F359F	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	359					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCAGGCACAGGAAGTCCAGGT	0.617000													15	75					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179633410	179633410	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179633410A>G	ENST00000589042.1	-	38	9377	c.9153T>C	c.(9151-9153)ctT>ctC	p.L3051L	TTN_ENST00000591111.1_Silent_p.L3051L|TTN_ENST00000342992.6_Silent_p.L3051L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L3005L|TTN_ENST00000360870.5_Silent_p.L3051L|TTN_ENST00000460472.2_Silent_p.L3005L|TTN_ENST00000342175.6_Silent_p.L3005L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2790							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)			CTTCCACATAAAGTGTGGCTG	0.353000													12	11					0	0	0.001855	0	0
DNAI1	27019	broad.mit.edu	37	9	34497151	34497151	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:34497151C>T	ENST00000242317.4	+	10	1026	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	285					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTGCTAAGATCATGGAGCGGA	0.413000									Kartagener syndrome				22	28					0	0	0.003954	0	0
PDE4C	5143	broad.mit.edu	37	19	18327613	18327613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:18327613C>T	ENST00000355502.3	-	16	2294	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	PDE4C_ENST00000262805.11_Missense_Mutation_p.D443N|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.D244N|PDE4C_ENST00000594465.2_Missense_Mutation_p.D475N|PDE4C_ENST00000447275.2_Missense_Mutation_p.D369N|PDE4C_ENST00000594617.2_Missense_Mutation_p.D475N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	475					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGAAGATATCGCAGTTCTCT	0.602000													42	122					0	0	0.003610	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090224	238090224	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:238090224C>T	ENST00000450451.1	+	0	1730					NR_027247.2																						AGCTGTGTTTCCCTCCATCAT	0.597000													4	5					0	0	0.000248	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226876	19226876	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:19226876T>A	ENST00000263200.10	-	5	789	c.717A>T	c.(715-717)ggA>ggT	p.G239G	CLTCL1_ENST00000353891.5_Silent_p.G239G|CLTCL1_ENST00000427926.1_Silent_p.G239G	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	239	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGGTTGGTTTCCCGCTGCAG	0.473000			T	?	ALCL								179	208					0	0	0.003610	0	0
RFPL2	10739	broad.mit.edu	37	22	32586859	32586859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32586859G>A	ENST00000400236.3	-	5	1972	c.767C>T	c.(766-768)cCt>cTt	p.P256L	RFPL2_ENST00000248983.4_Missense_Mutation_p.P256L|RFPL2_ENST00000248980.4_Missense_Mutation_p.P285L|RFPL2_ENST00000400237.1_Missense_Mutation_p.P346L|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	346	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGGAACTGAAGGAGCCAAAAA	0.488000													42	124					0	0	0.002522	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325416	47325416	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:47325416C>T	ENST00000505841.1	-	0	1113					NR_002788.2																						CGGAGGCATTCCTTGATGCAC	0.507000													10	21					0	0	0.006214	0	0
TNNI2	7136	broad.mit.edu	37	11	1862079	1862079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1862079G>A	ENST00000381906.1	+	6	286	c.217G>A	c.(217-219)Gat>Aat	p.D73N	TNNI2_ENST00000381905.3_Missense_Mutation_p.D73N|TNNI2_ENST00000381911.1_Missense_Mutation_p.D73N|TNNI2_ENST00000252898.7_Missense_Mutation_p.D73N	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	73					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGCCAAGATCGATGCGGCTGA	0.672000													13	33					0	0	0.001855	0	0
ABCA3	21	broad.mit.edu	37	16	2333217	2333217	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2333217G>A	ENST00000301732.5	-	26	4705	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I	ABCA3_ENST00000382381.3_Silent_p.I1277I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1335					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGGCGCAGAGGATGCCCCTGA	0.662000													10	36					0	0	0.000978	0	0
ZFP82	284406	broad.mit.edu	37	19	36884835	36884835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:36884835C>T	ENST00000392161.3	-	5	649	c.407G>A	c.(406-408)gGa>gAa	p.G136E	ZFP82_ENST00000392171.1_Missense_Mutation_p.G136E	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTGAAGTATCCTTCTTGAGG	0.388000													29	44					0	0	0.001786	0	0
VENTX	27287	broad.mit.edu	37	10	135053763	135053763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:135053763G>A	ENST00000325980.9	+	3	1241	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	244					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTGTCCACGGGGCCCCGGGG	0.687000													6	12					0	0	0.003080	0	0
ITGAM	3684	broad.mit.edu	37	16	31283225	31283225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:31283225C>T	ENST00000544665.3	+	7	687	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q206*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	206	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAAGAGTTCCAGAACAACCC	0.552000													10	56					0	0	0.006214	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963455	73963455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73963455G>A	ENST00000373468.1	-	3	1588	c.937C>T	c.(937-939)Cga>Tga	p.R313*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.R313*			Q5QGS0	K2022_HUMAN	KIAA2022	313					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCATATCGAATTTTCAGG	0.418000													6	25					0	0	0.003080	0	0
ZNF626	199777	broad.mit.edu	37	19	20807869	20807869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:20807869G>A	ENST00000601440.1	-	4	960	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTTTACTAAGGGTTGAGGAT	0.398000													7	16					0	0	0.003080	0	0
RFPL1	5988	broad.mit.edu	37	22	29834864	29834864	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:29834864G>A	ENST00000354373.2	+	1	293	c.84G>A	c.(82-84)gtG>gtA	p.V28V	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	28							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCCTGGCAGTGGACATGGCTG	0.483000													23	33					0	0	0.003330	0	0
SELE	6401	broad.mit.edu	37	1	169701978	169701978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169701978G>A	ENST00000333360.7	-	3	338	c.199C>T	c.(199-201)Cca>Tca	p.P67S	SELE_ENST00000367781.4_Missense_Mutation_p.P67S|SELE_ENST00000367780.4_Missense_Mutation_p.P67S|SELE_ENST00000367779.4_Missense_Mutation_p.P67S|SELE_ENST00000367777.1_Missense_Mutation_p.P67S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.P67S|SELE_ENST00000367782.4_Missense_Mutation_p.P67S|SELE_ENST00000367775.1_Missense_Mutation_p.P67S|SELE_ENST00000367776.1_Missense_Mutation_p.P67S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	67	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TAATAACTTGGTGAATAGCTC	0.438000													17	18					0	0	0.006122	0	0
MAST4	375449	broad.mit.edu	37	5	66459314	66459314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:66459314C>T	ENST00000404260.3	+	29	4624	c.4316C>T	c.(4315-4317)cCc>cTc	p.P1439L	MAST4_ENST00000261569.7_Missense_Mutation_p.P1242L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1247L|MAST4_ENST00000403625.2_Missense_Mutation_p.P1436L|MAST4_ENST00000405643.1_Missense_Mutation_p.P1257L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1439						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGGAGCCCCCCAGGTCCCCG	0.627000													4	9					0	0	0.000248	0	0
USP43	124739	broad.mit.edu	37	17	9583586	9583586	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:9583586G>A	ENST00000570827.2	+	6	1149	c.75G>A	c.(73-75)cgG>cgA	p.R25R	USP43_ENST00000285199.6_Silent_p.R336R|USP43_ENST00000570475.1_Silent_p.R336R|USP43_ENST00000575346.1_3'UTR			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	336					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GATTCCAGCGGTCTTTCTTTG	0.438000													24	44					0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13911581	13911581	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:13911581T>C	ENST00000265104.4	-	12	1662	c.1558A>G	c.(1558-1560)Aaa>Gaa	p.K520E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	520	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTTTTTCTTTATGGTT	0.313000									Kartagener syndrome				20	13					0	0	0.001523	0	0
TCF4	6925	broad.mit.edu	37	18	52899793	52899793	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:52899793C>T	ENST00000354452.3	-	17	2207	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	TCF4_ENST00000544241.2_Silent_p.K461K|TCF4_ENST00000570287.2_Silent_p.K372K|TCF4_ENST00000356073.4_Silent_p.K532K|TCF4_ENST00000570177.2_Silent_p.K402K|TCF4_ENST00000537856.3_Silent_p.K402K|TCF4_ENST00000568673.1_Silent_p.K508K|TCF4_ENST00000565018.2_Silent_p.K532K|TCF4_ENST00000567880.1_Silent_p.K472K|TCF4_ENST00000540999.1_Silent_p.K508K|TCF4_ENST00000566286.1_Silent_p.K529K|TCF4_ENST00000561992.1_Silent_p.K402K|TCF4_ENST00000457482.3_Silent_p.K372K|TCF4_ENST00000564228.1_Silent_p.K461K|TCF4_ENST00000561831.3_Silent_p.K372K|TCF4_ENST00000566279.1_Silent_p.K472K|TCF4_ENST00000568740.1_Silent_p.K507K|TCF4_ENST00000398339.1_Silent_p.K634K|TCF4_ENST00000564403.2_Silent_p.K538K|TCF4_ENST00000537578.1_Silent_p.K508K|TCF4_ENST00000543082.1_Silent_p.K490K|TCF4_ENST00000564999.1_Silent_p.K532K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	532					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CATCTAATTTCTTGTCCTCCG	0.423000													16	31					0	0	0.004007	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182999	140182999	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140182999G>A	ENST00000522353.2	+	1	2217	c.2217G>A	c.(2215-2217)ctG>ctA	p.L739L	PCDHA3_ENST00000532566.2_Silent_p.L739L|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCACGCTGGTGTGCTCCA	0.637000													95	55					0	0	0.003610	0	0
CD84	8832	broad.mit.edu	37	1	160535278	160535278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:160535278C>T	ENST00000368054.3	-	2	339	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CD84_ENST00000368051.3_Missense_Mutation_p.E102K|CD84_ENST00000311224.4_Missense_Mutation_p.E102K|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.E102K|CD84_ENST00000368047.3_5'UTR	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	102					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.M101_E102>I*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCGTCTTCCATCCTCAGA	0.458000													21	25					0	0	0.002780	0	0
ADRA1D	146	broad.mit.edu	37	20	4202271	4202271	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:4202271C>G	ENST00000379453.4	-	2	1734	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	540				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GACACAGCCTCCACCTCTGAG	0.677000													23	38					0	0	0.003330	0	0
GBA3	57733	broad.mit.edu	37	4	22749400	22749400	+	RNA	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:22749400A>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATTTGCTAAACCCATATTCA	0.448000													12	14					0	0	0.000978	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998300	46998300	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:46998300C>T	ENST00000599531.1	-	1	1455	c.423G>A	c.(421-423)ggG>ggA	p.G141G	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Silent_p.G141G|AC011484.1_ENST00000377652.3_Silent_p.S137S	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	141										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGTTACCTCCCCAGAATCCT	0.697000													28	69					0	0	0.002096	0	0
CD300E	342510	broad.mit.edu	37	17	72613449	72613449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72613449C>T	ENST00000392619.1	-	2	312	c.277G>A	c.(277-279)Gga>Aga	p.G93R	CD300E_ENST00000426295.2_Missense_Mutation_p.G107R|CD300E_ENST00000328630.3_Missense_Mutation_p.G66R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	66	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCTCTTCTCCCTTGGTCTCC	0.527000													29	23					0	0	0.002445	0	0
MRPL15	29088	broad.mit.edu	37	8	55049898	55049898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55049898C>T	ENST00000260102.4	+	3	408	c.334C>T	c.(334-336)Cct>Tct	p.P112S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	112					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TCGTGTTGATCCTAGTCAACC	0.428000													39	138					0	0	0.004878	0	0
ACE	1636	broad.mit.edu	37	17	61558963	61558963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:61558963G>A	ENST00000290866.4	+	7	1006	c.982G>A	c.(982-984)Gag>Aag	p.E328K	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.E328K|ACE_ENST00000428043.1_Missense_Mutation_p.E328K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	328	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGGCAGAGGAGTTCTTCAC	0.682000													12	26					0	0	0.001855	0	0
OLAH	55301	broad.mit.edu	37	10	15107724	15107724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:15107724G>A	ENST00000378217.3	+	7	890	c.703G>A	c.(703-705)Gca>Aca	p.A235T	OLAH_ENST00000378228.3_Missense_Mutation_p.A182T|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	182					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CATCATAAGGGCAGATCTGAA	0.363000													17	3					0	0	0.007413	0	0
SPATA8	145946	broad.mit.edu	37	15	97328248	97328248	+	Missense_Mutation	SNP	G	G	A	rs145348357		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:97328248G>A	ENST00000558553.1	+	3	246	c.97G>A	c.(97-99)Gat>Aat	p.D33N	SPATA8_ENST00000328504.3_Silent_p.R73R			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0								p.R73R(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CTCACGGAAGGATCCAAAGGG	0.453000													69	81					0	0	0.003610	0	0
OR6B2	389090	broad.mit.edu	37	2	240969784	240969784	+	Silent	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:240969784T>G	ENST00000402971.2	-	1	122	c.63A>C	c.(61-63)ccA>ccC	p.P21P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACTGCAGCCCTGGGGCCGTGG	0.592000													41	33					0	0	0.006999	0	0
MAGT1	84061	broad.mit.edu	37	X	77130972	77130972	+	Silent	SNP	G	G	A	rs143799822	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77130972G>A	ENST00000358075.6	-	2	407	c.321C>T	c.(319-321)atC>atT	p.I107I	MAGT1_ENST00000373336.3_Silent_p.I75I	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	75					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TGAACATGACGATAACGGAGT	0.408000													37	152					0	0	0.006230	0	0
PCLO	27445	broad.mit.edu	37	7	82764641	82764641	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82764641G>T	ENST00000423517.2	-	3	2562	c.2225C>A	c.(2224-2226)tCt>tAt	p.S742Y	PCLO_ENST00000333891.8_Missense_Mutation_p.S742Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	688	Pro-rich.				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						GTCCTGCTCAGATGGGACAGA	0.517000													40	49					1.96642e-18	3.97621e-18	0.006999	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48601028	48601028	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48601028G>A	ENST00000323776.5	+	12	1809	c.1647G>A	c.(1645-1647)agG>agA	p.R549R	MYCBPAP_ENST00000436259.2_Silent_p.R512R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	512					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGGTCTTCAGGGAATTTTGGG	0.478000													64	38					0	0	0.003610	0	0
CIT	11113	broad.mit.edu	37	12	120166409	120166409	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:120166409G>A	ENST00000392521.2	-	28	3544	c.3489C>T	c.(3487-3489)ctC>ctT	p.L1163L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1121L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1121	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTCATTGAGCTAGACAT	0.438000													70	50					0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142160972	142160972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142160972C>T	ENST00000519811.1	+	6	845	c.775C>T	c.(775-777)Cga>Tga	p.R259*	DENND3_ENST00000262585.2_Nonsense_Mutation_p.R179*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.R179*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	179	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTTACCTGCCCGAGCAGACCC	0.597000													90	131					0	0	0.003610	0	0
AGBL4	84871	broad.mit.edu	37	1	49128893	49128893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:49128893C>T	ENST00000371839.1	-	7	771	c.655G>A	c.(655-657)Gag>Aag	p.E219K	AGBL4_ENST00000334103.7_5'UTR|AGBL4_ENST00000371838.1_Missense_Mutation_p.E219K	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	219					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACCTTCTGCTCTGCCCCTTCC	0.502000													19	31					0	0	0.002780	0	0
GALNTL6	442117	broad.mit.edu	37	4	173803978	173803978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:173803978C>T	ENST00000506823.1	+	8	1618	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R304W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	321	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGCTGTGGATCGGAAATGGTT	0.418000													7	12					0	0	0.001984	0	0
LILRA6	79168	broad.mit.edu	37	19	54745664	54745664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54745664C>T	ENST00000440558.2	-	4	494	c.446G>A	c.(445-447)gGa>gAa	p.G149E	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.G149E|LILRA6_ENST00000396365.2_Missense_Mutation_p.G149E|LILRA6_ENST00000245621.5_Missense_Mutation_p.G149E|LILRA6_ENST00000419410.2_Missense_Mutation_p.G149E|LILRA6_ENST00000391735.3_Missense_Mutation_p.G149E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGTGATATCCCTTCTGTGA	0.582000													13	74					0	0	0.004990	0	0
DNMT1	1786	broad.mit.edu	37	19	10270523	10270523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10270523C>T	ENST00000340748.4	-	15	1352	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D373N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D389N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	373	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CGTACCGCGTCTGGTGGGTGC	0.597000													128	155					0	0	0.003610	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558522	140558522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140558522C>T	ENST00000239444.2	+	1	1152	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGACTAAAGAA	0.393000													110	75					0	0	0.003610	0	0
DLEC1	9940	broad.mit.edu	37	3	38149937	38149937	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38149937C>T	ENST00000308059.6	+	21	3081	c.3060C>T	c.(3058-3060)tcC>tcT	p.S1020S	DLEC1_ENST00000346219.3_Silent_p.S1020S|DLEC1_ENST00000452631.2_Silent_p.S1020S			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1020					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGACAGTCTCCCCCAAACATG	0.552000													5	26					0	0	0.001168	0	0
MRPL49	740	broad.mit.edu	37	11	64893061	64893061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64893061C>T	ENST00000279242.2	+	3	350	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	MRPL49_ENST00000526171.1_Missense_Mutation_p.R111W|MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000531705.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	111					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						GACTGTGATCCGGAAAGTGGA	0.577000													47	29					0	0	0.003214	0	0
SCN7A	6332	broad.mit.edu	37	2	167301440	167301440	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:167301440A>G	ENST00000409855.1	-	12	1584	c.1458T>C	c.(1456-1458)aaT>aaC	p.N486N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	486					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGGAGAACAATTCCAGATCA	0.299000													9	12					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10469454	10469454	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:10469454G>A	ENST00000382483.3	-	4	2377	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	718					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGGTCTCAGGTTCCCAGAGG	0.607000													29	47					0	0	0.006320	0	0
ACSF2	80221	broad.mit.edu	37	17	48551881	48551881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48551881C>T	ENST00000427954.2	+	17	1934	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*	ACSF2_ENST00000502667.1_Nonsense_Mutation_p.R593*|ACSF2_ENST00000541920.1_Nonsense_Mutation_p.R446*|ACSF2_ENST00000300441.4_Nonsense_Mutation_p.R606*|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Nonsense_Mutation_p.R563*			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	606					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATTCAAACTTCGAGAGCAGAT	0.468000													41	37					0	0	0.003610	0	0
LMTK3	114783	broad.mit.edu	37	19	49012131	49012131	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:49012131G>A	ENST00000600059.1	-	5	761	c.534C>T	c.(532-534)ttC>ttT	p.F178F	LMTK3_ENST00000270238.3_Silent_p.F207F					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTTCCGAGATGAACTTGCGTT	0.592000													36	88					0	0	0.005524	0	0
NPAP1	23742	broad.mit.edu	37	15	24922292	24922292	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24922292C>T	ENST00000329468.2	+	1	1752	c.1278C>T	c.(1276-1278)atC>atT	p.I426I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTTGCCCATCCCTGACTTGG	0.547000													53	50					0	0	0.003610	0	0
NLRP2	55655	broad.mit.edu	37	19	55494742	55494742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55494742G>A	ENST00000543010.1	+	6	1819	c.1676G>A	c.(1675-1677)gGc>gAc	p.G559D	NLRP2_ENST00000427260.2_Missense_Mutation_p.G536D|NLRP2_ENST00000391721.4_Missense_Mutation_p.G535D|NLRP2_ENST00000537859.1_Missense_Mutation_p.G537D|NLRP2_ENST00000263437.6_Missense_Mutation_p.G556D|NLRP2_ENST00000538819.1_Missense_Mutation_p.G535D|NLRP2_ENST00000448584.2_Missense_Mutation_p.G559D|NLRP2_ENST00000339757.7_Missense_Mutation_p.G537D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	559					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TACTCCTTTGGCCTCGCTAAC	0.547000													28	51					0	0	0.005443	0	0
LSM11	134353	broad.mit.edu	37	5	157181871	157181871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:157181871C>T	ENST00000286307.5	+	4	738	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	228					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTATTTGATCGGCTGAAACT	0.363000													33	19					0	0	0.002445	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832956	27832956	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:27832956C>T	ENST00000318304.8	+	20	2158	c.1875C>T	c.(1873-1875)ccC>ccT	p.P625P	PPFIBP1_ENST00000228425.6_Silent_p.P619P|PPFIBP1_ENST00000537927.1_Silent_p.P472P|PPFIBP1_ENST00000542629.1_Silent_p.P594P	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	625					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CCGCGGGGCCCCGATTAGGTT	0.473000													15	13					0	0	0.004007	0	0
PAIP1	10605	broad.mit.edu	37	5	43547949	43547949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:43547949G>A	ENST00000306846.3	-	3	734	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	PAIP1_ENST00000338972.4_Missense_Mutation_p.H56Y|PAIP1_ENST00000514514.1_Missense_Mutation_p.H89Y|PAIP1_ENST00000436644.2_Missense_Mutation_p.H89Y	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	168	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCTGTAAGATGATTCAAAAAA	0.363000													22	44					0	0	0.002780	0	0
SYT16	83851	broad.mit.edu	37	14	62462985	62462985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:62462985C>T	ENST00000430451.2	+	1	445	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SYT16_ENST00000446982.2_Missense_Mutation_p.S83F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATGCAAATTCCTTGTTTCTT	0.388000													8	15					0	0	0.004482	0	0
FLT4	2324	broad.mit.edu	37	5	180043920	180043920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180043920C>T	ENST00000261937.6	-	22	3154	c.3076G>A	c.(3076-3078)Gag>Aag	p.E1026K	FLT4_ENST00000393347.3_Missense_Mutation_p.E1026K|FLT4_ENST00000502649.1_Missense_Mutation_p.E1026K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1026	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCAGGAACTCCATCCCTCTG	0.602000													21	75					0	0	0.004656	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594838	31594838	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31594838C>A	ENST00000376033.2	+	11	1387	c.1153C>A	c.(1153-1155)Ccg>Acg	p.P385T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P385T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	385	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAACAGCGAACCGCCCACTCC	0.622000													31	29					1.06801e-11	2.15055e-11	0.001786	1	0
TTC22	55001	broad.mit.edu	37	1	55266488	55266488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:55266488C>T	ENST00000371276.4	-	1	452	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TTC22_ENST00000371274.4_Missense_Mutation_p.E117K	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	117							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCCTCCTCTTCTTCCTGGCCC	0.731000													7	4					0	0	0.004482	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957389	35957389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:35957389C>A	ENST00000274278.3	-	5	1333	c.976G>T	c.(976-978)Gga>Tga	p.G326*	UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.G326*|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.G292*|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	326						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCACTCCTTGAGGGAGG	0.507000													10	20					3.86212e-05	7.73361e-05	0.000673	1	0
CXorf22	170063	broad.mit.edu	37	X	35988925	35988925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:35988925C>T	ENST00000297866.5	+	11	1921	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	619										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTATGTGAATCATGATTTTGC	0.269000													4	8					0	0	0.000602	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918360	48918360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48918360G>A	ENST00000311378.4	+	2	2239	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E478K	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	571						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGTCCTCAAGGAGTTTCTTGG	0.622000													24	63					0	0	0.006320	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163835	150163835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:150163835G>A	ENST00000307271.3	+	2	623	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	17						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCTCCTCCTGGGAAAATGCCG	0.507000													20	19					0	0	0.007413	0	0
FLNA	2316	broad.mit.edu	37	X	153588743	153588743	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153588743G>A	ENST00000422373.1	-	22	3668	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	FLNA_ENST00000369850.3_Silent_p.F1140F|FLNA_ENST00000360319.4_Silent_p.F1140F|FLNA_ENST00000344736.4_Silent_p.F1140F	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1140					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTGTCAGCGAAGAGGATGT	0.617000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	48	52					0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103214626	103214626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:103214626C>T	ENST00000428762.1	-	30	4583	c.4424G>A	c.(4423-4425)gGa>gAa	p.G1475E	RELN_ENST00000424685.2_Missense_Mutation_p.G1475E|RELN_ENST00000343529.5_Missense_Mutation_p.G1475E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1475					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)		GTTAAGTGTTCCACAGCCAGT	0.493000													16	61					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179643720	179643720	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179643720A>T	ENST00000589042.1	-	24	4313	c.4089T>A	c.(4087-4089)acT>acA	p.T1363T	TTN_ENST00000591111.1_Silent_p.T1363T|TTN_ENST00000342992.6_Silent_p.T1363T|TTN_ENST00000359218.5_Silent_p.T1317T|TTN_ENST00000360870.5_Silent_p.T1363T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Silent_p.T1317T|TTN_ENST00000342175.6_Silent_p.T1317T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1363	Ig-like 5.						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)			TGGCAAATGCAGTGTAGATTC	0.438000													4	11					0	0	0.000602	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886232	9886232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:9886232G>A	ENST00000306084.6	+	1	260	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000584255.1_Intron|TXNDC2_ENST00000426718.3_Missense_Mutation_p.E21K|TXNDC2_ENST00000357775.4_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	21					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGGAAAACCAGAAATGAGGCT	0.468000													12	29					0	0	0.000978	0	0
SYT1	6857	broad.mit.edu	37	12	79693302	79693302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:79693302C>T	ENST00000261205.4	+	8	1438	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	SYT1_ENST00000393240.3_Missense_Mutation_p.R261C|SYT1_ENST00000457153.2_Missense_Mutation_p.R258C|SYT1_ENST00000552744.1_Missense_Mutation_p.R261C	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	261	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAGGAATGGCGTGACCTGCA	0.403000													14	40					0	0	0.003163	0	0
GNAZ	2781	broad.mit.edu	37	22	23437907	23437907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:23437907G>A	ENST00000248996.4	+	2	691	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	9						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGCTCAGAGGAAAAAGAAGC	0.642000													20	52					0	0	0.001216	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423519	5423519	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:5423519G>A	ENST00000341928.2	-	11	1537	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	EPB41L3_ENST00000342933.3_Silent_p.F399F|EPB41L3_ENST00000544123.1_Silent_p.F399F|EPB41L3_ENST00000540638.2_Silent_p.F399F|EPB41L3_ENST00000400111.3_Silent_p.F399F|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	399	Hydrophilic.				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						CCAAGGTTAGGAATTTCTTGG	0.418000													7	30					0	0	0.006214	0	0
SPATA22	84690	broad.mit.edu	37	17	3352263	3352263	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3352263T>A	ENST00000573128.1	-	6	993	c.510A>T	c.(508-510)aaA>aaT	p.K170N	SPATA22_ENST00000541913.1_Missense_Mutation_p.K154N|SPATA22_ENST00000268981.5_Missense_Mutation_p.K170N|SPATA22_ENST00000575375.1_Missense_Mutation_p.K170N|SPATA22_ENST00000397168.3_Missense_Mutation_p.K170N|SPATA22_ENST00000572969.1_Missense_Mutation_p.K170N|SPATA22_ENST00000355380.4_Missense_Mutation_p.K127N			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	170										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GCTCGGTTTCTTTGTTGCGAG	0.398000													23	56					0	0	0.001786	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789141	56789141	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:56789141G>A	ENST00000413728.2	-	3	804	c.261C>T	c.(259-261)atC>atT	p.I87I	ARHGEF3_ENST00000338458.4_Silent_p.I113I|ARHGEF3_ENST00000296315.3_Silent_p.I81I|ARHGEF3_ENST00000496106.1_Silent_p.I87I|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Silent_p.I81I|ARHGEF3_ENST00000497267.1_Silent_p.I52I	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	81					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGGGGGCGAGGATGTCAGGGC	0.577000													57	136					0	0	0.003610	0	0
CEACAM21	90273	broad.mit.edu	37	19	42091803	42091803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:42091803G>A	ENST00000407170.2	+	6	1234	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.D269N|CEACAM21_ENST00000187608.9_Missense_Mutation_p.D268N			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	269						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TAGGGCCAGCGATCAGAGTGA	0.532000													21	55					0	0	0.004656	0	0
GLDN	342035	broad.mit.edu	37	15	51696916	51696916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51696916C>T	ENST00000335449.6	+	10	1677	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	GLDN_ENST00000396399.2_Missense_Mutation_p.P417S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	541	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AATGCTTTATCCTGTGCAGTT	0.423000													64	74					0	0	0.003610	0	0
MANBA	4126	broad.mit.edu	37	4	103647759	103647759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:103647759G>A	ENST00000226578.4	-	2	358	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	MANBA_ENST00000505239.1_Missense_Mutation_p.P87S	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	87					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ATTTCAAAGGGGATTTTAAAT	0.303000													30	40					0	0	0.002836	0	0
F2RL2	2151	broad.mit.edu	37	5	75914384	75914384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:75914384C>T	ENST00000296641.4	-	2	351	c.148G>A	c.(148-150)Gag>Aag	p.E50K	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E28K|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	50					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAGGGGAACTCTTCAAAAGAA	0.428000													43	91					0	0	0.003610	0	0
CD180	4064	broad.mit.edu	37	5	66478766	66478766	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:66478766G>A	ENST00000256447.4	-	3	2062	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	635					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAAATACTATGAGAAAGAAAA	0.418000													13	33					0	0	0.001855	0	0
C17orf103	256302	broad.mit.edu	37	17	21147522	21147522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:21147522G>A	ENST00000468196.1	-	2	266	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	C17orf103_ENST00000399011.2_Missense_Mutation_p.A40V			Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	0										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GAGCAGGACGGCCCGGTCATG	0.622000													6	21					0	0	0.001168	0	0
RFX2	5990	broad.mit.edu	37	19	6016274	6016274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6016274C>T	ENST00000303657.5	-	7	755	c.606G>A	c.(604-606)tgG>tgA	p.W202*	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Nonsense_Mutation_p.W202*|RFX2_ENST00000592546.1_Nonsense_Mutation_p.W177*	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TATCCAACAGCCACTGGAGCT	0.488000													33	45					0	0	0.006230	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954734	33954734	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:33954734C>T	ENST00000361328.3	+	4	777	c.624C>T	c.(622-624)gtC>gtT	p.V208V	ZSCAN20_ENST00000373413.2_Intron|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	208					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCCCCGAGTCCCTACTCTCC	0.498000													11	0					0	0	0.000978	0	0
NYAP1	222950	broad.mit.edu	37	7	100086570	100086570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100086570C>T	ENST00000423930.1	+	4	1385	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	NYAP1_ENST00000454988.1_Missense_Mutation_p.P352L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P409L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	409	Pro-rich.																CACTCGACACCGTTGCCACCC	0.751000													23	31					0	0	0.003330	0	0
APOA5	116519	broad.mit.edu	37	11	116661393	116661393	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:116661393G>A	ENST00000542499.1	-	4	624	c.552C>T	c.(550-552)acC>acT	p.T184T	APOA5_ENST00000227665.4_Silent_p.T184T	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	184					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.T184T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGAAGCGGCCGGTGTGGTGCA	0.687000													84	194					0	0	0.003610	0	0
C16orf89	146556	broad.mit.edu	37	16	5115949	5115949	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:5115949C>T	ENST00000350219.4	-	1	162	c.75G>A	c.(73-75)caG>caA	p.Q25Q	C16orf89_ENST00000315997.5_5'UTR|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_5'UTR|C16orf89_ENST00000422873.1_Silent_p.Q25Q|C16orf89_ENST00000472572.3_5'UTR			Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	0						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCTCAGCACCCTGAGCTCTGG	0.667000													4	7					0	0	0.000248	0	0
ZNF835	90485	broad.mit.edu	37	19	57175856	57175856	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57175856C>T	ENST00000537055.2	-	2	942	c.711G>A	c.(709-711)ctG>ctA	p.L237L		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						GGTGCTCTATCAGGGACGAGC	0.701000													12	19					0	0	0.001855	0	0
TRPV6	55503	broad.mit.edu	37	7	142569475	142569475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142569475C>T	ENST00000359396.3	-	15	2408	c.2163G>A	c.(2161-2163)tgG>tgA	p.W721*		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	721					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTGATATTCCCAGCTCTCCC	0.537000													46	127					0	0	0.003610	0	0
NLRP4	147945	broad.mit.edu	37	19	56369489	56369489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56369489G>A	ENST00000301295.6	+	3	1152	c.730G>A	c.(730-732)Gat>Aat	p.D244N	NLRP4_ENST00000587891.1_Missense_Mutation_p.D169N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D244N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	244	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAACGAACCCGATTCGGATCT	0.562000													27	56					0	0	0.001512	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369281	20369281	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:20369281G>A	ENST00000593655.1	-	0	199																											GGCATAGTACGAAATTGGGAT	0.378000													55	178					0	0	0.003610	0	0
MRPL23	6150	broad.mit.edu	37	11	1977612	1977612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1977612C>T	ENST00000397298.3	+	5	509	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.P142S	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	142					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GAGCAGCGACCCGCGGCGGGG	0.701000													40	19					0	0	0.002852	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019079	2019079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:2019079G>A	ENST00000382722.5	-	4	841	c.479C>T	c.(478-480)tCc>tTc	p.S160F	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S96F|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S96F|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S160F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	160						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACCACCAGGGATTCATTGAA	0.602000													5	20					0	0	0.004482	0	0
ATL1	51062	broad.mit.edu	37	14	51094844	51094844	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:51094844G>A	ENST00000441560.2	+	13	1696	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	ATL1_ENST00000354525.4_Silent_p.V405V|ATL1_ENST00000358385.6_Silent_p.V405V|ATL1_ENST00000357032.3_Silent_p.V405V	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	405					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCCGAGGGGTGAAGAAGATGG	0.443000													19	8					0	0	0.006122	0	0
ALPK2	115701	broad.mit.edu	37	18	56205027	56205027	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:56205027T>A	ENST00000361673.3	-	5	2605	c.2392A>T	c.(2392-2394)Aga>Tga	p.R798*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	798							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGCTTCTCTGTCCCTTGGC	0.493000													12	6					0	0	0.001368	0	0
ENC1	8507	broad.mit.edu	37	5	73931100	73931100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:73931100G>A	ENST00000302351.4	-	2	2341	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	ENC1_ENST00000537006.1_Missense_Mutation_p.P404L|ENC1_ENST00000510316.1_Missense_Mutation_p.P331L	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	404					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGGGGAGGCCGGGAGGCAGCC	0.602000													33	94					0	0	0.003755	0	0
ZNF10	7556	broad.mit.edu	37	12	133732562	133732562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:133732562G>A	ENST00000248211.6	+	5	952	c.730G>A	c.(730-732)Gac>Aac	p.D244N	ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.D244N	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	244				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTGATAATGACAACTCTCT	0.378000													5	13					0	0	0.001168	0	0
PI4KA	5297	broad.mit.edu	37	22	21065061	21065061	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21065061G>A	ENST00000255882.6	-	52	6095	c.6009C>T	c.(6007-6009)atC>atT	p.I2003I	PI4KA_ENST00000572273.1_Silent_p.I1945I|PI4KA_ENST00000414196.3_Silent_p.I755I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1945	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGCCCCCCATGATCATCACCA	0.582000													38	94					0	0	0.003610	0	0
IQUB	154865	broad.mit.edu	37	7	123109291	123109291	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:123109291A>C	ENST00000466202.1	-	9	2134	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	IQUB_ENST00000324698.6_Missense_Mutation_p.L520V|IQUB_ENST00000434450.1_Missense_Mutation_p.L520V			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	520										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTAAGAGTTAACAGCACATCC	0.358000													27	37					0	0	0.002445	0	0
AGPAT4	56895	broad.mit.edu	37	6	161653068	161653068	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:161653068G>A	ENST00000320285.4	-	2	390	c.178_splice	c.e2+1	p.Q60_splice	AGPAT4_ENST00000366905.3_Splice_Site_p.Q60_splice|AGPAT4_ENST00000366911.5_Splice_Site_p.R60_splice|AGPAT4_ENST00000457520.2_Splice_Site_p.L60_splice|AGPAT4_ENST00000366908.5_Splice_Site_p.Q60_splice|AGPAT4_ENST00000366906.5_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	60					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGTATCTTACGGCTTGAGATG	0.433000													24	30					0	0	0.006320	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822053	24822053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:24822053G>A	ENST00000376451.2	+	11	2610	c.2350G>A	c.(2350-2352)Gca>Aca	p.A784T	KIAA1217_ENST00000458595.1_Missense_Mutation_p.A1066T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A784T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A1021T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A1065T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A784T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A1101T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A784T			Q5T5P2	SKT_HUMAN	KIAA1217	1101					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAATATCCAGCAGAGGAGCC	0.502000													12	14					0	0	0.001855	0	0
LPIN1	23175	broad.mit.edu	37	2	11943103	11943103	+	Missense_Mutation	SNP	C	C	T	rs113391634		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:11943103C>T	ENST00000256720.2	+	14	1942	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	LPIN1_ENST00000396097.1_Missense_Mutation_p.P347S|LPIN1_ENST00000404113.2_Missense_Mutation_p.P118S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P702S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P623S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P659S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	617					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGGCCACCTCCCTCTTCTGCC	0.542000													62	49					0	0	0.003610	0	0
MISP	126353	broad.mit.edu	37	19	761645	761645	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:761645G>A	ENST00000215582.6	+	4	2035	c.1932G>A	c.(1930-1932)tcG>tcA	p.S644S		NM_173481.2	NP_775752.1			mitotic spindle positioning																		TCAACCCCTCGGACGGTATCA	0.612000													23	72					0	0	0.002096	0	0
AFP	174	broad.mit.edu	37	4	74319483	74319483	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74319483T>C	ENST00000395792.2	+	13	1754	c.1652_splice	c.e13-1	p.F552_splice	AFP_ENST00000506820.1_3'UTR|AFP_ENST00000226359.2_Splice_Site_p.F552_splice	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	552	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATCACAGGTTTCTCATTAA	0.388000									Alpha-Fetoprotein, Hereditary Persistence of				2	0					0	0	0.004672	0	0
OR9A4	130075	broad.mit.edu	37	7	141618981	141618981	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141618981C>T	ENST00000548136.1	+	1	365	c.306C>T	c.(304-306)ttC>ttT	p.F102F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCCAGCTCTTCTTGTACCTTG	0.493000													41	61					0	0	0.002522	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:73787531C>T	ENST00000342056.2	+	5	1237	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTATTTTTTCGTCTTTCCTT	0.338000													8	1					0	0	0.003080	0	0
MT4	84560	broad.mit.edu	37	16	56599053	56599053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:56599053G>A	ENST00000219162.3	+	1	93	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	5						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						GGACCCCAGGGAATGTGTCTG	0.587000													58	39					0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79936482	79936482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:79936482C>T	ENST00000360280.3	+	44	5910	c.5650C>T	c.(5650-5652)Ctt>Ttt	p.L1884F	VPS13A_ENST00000376634.4_Missense_Mutation_p.L1884F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L1884F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L1845F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1884					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAATTCCCTTGGACTTAC	0.338000													6	10					0	0	0.001168	0	0
RUSC1	23623	broad.mit.edu	37	1	155292345	155292345	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155292345A>G	ENST00000368352.5	+	2	932	c.781A>G	c.(781-783)Aat>Gat	p.N261D	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.N261D|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	261						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AAACAACGGGAATGTTAACTC	0.383000													148	169					0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200943302	200943302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200943302C>T	ENST00000332129.2	-	34	5112	c.4796G>A	c.(4795-4797)tGg>tAg	p.W1599*	KIF21B_ENST00000422435.2_Nonsense_Mutation_p.W1612*|KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000461742.2_Intron	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1612					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACGTAATTCCACAACTTTAC	0.632000													13	48					0	0	0.002450	0	0
OR1E1	8387	broad.mit.edu	37	17	3301037	3301037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3301037G>A	ENST00000322608.2	-	1	667	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GAGGATGGAGGAGACAATTCT	0.468000													10	34					0	0	0.007413	0	0
MST1L	11223	broad.mit.edu	37	1	17085046	17085046	+	RNA	SNP	C	C	T	rs142342031	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17085046C>T	ENST00000455405.2	-	0	142																											TCCAGCCGATCCACCCTCTTG	0.607000													8	50					0	0	0.001855	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226219	79226219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79226219G>A	ENST00000374759.3	-	13	2104	c.1721C>T	c.(1720-1722)cCt>cTt	p.P574L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P574L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	574					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGATCTTCAGGAAGATCACC	0.622000													31	58					0	0	0.002445	0	0
OR8B8	26493	broad.mit.edu	37	11	124310640	124310640	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124310640G>A	ENST00000328064.2	-	1	414	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTGCTGACAGGATGAAGGACT	0.468000													6	33					0	0	0.001168	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935675	151935675	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151935675G>A	ENST00000393902.3	-	3	1059	c.492C>T	c.(490-492)atC>atT	p.I164I	MAGEA3_ENST00000370278.3_Silent_p.I164I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	164	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTCGATGCCAAAGA	0.532000													58	100					0	0	0.003610	0	0
PSPH	5723	broad.mit.edu	37	7	56087373	56087373	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:56087373G>A	ENST00000395471.3	-	5	1000	c.195C>T	c.(193-195)cgC>cgT	p.R65R	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Silent_p.R65R			P78330	SERB_HUMAN	phosphoserine phosphatase	65					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGGGCTAAGCGCTCTGTGA	0.632000													22	32					0	0	0.001523	0	0
TECTA	7007	broad.mit.edu	37	11	120998804	120998804	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:120998804C>T	ENST00000392793.1	+	9	2389	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	TECTA_ENST00000264037.2_Silent_p.F706F			O75443	TECTA_HUMAN	tectorin alpha	706					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGGCTGCTTCCCCAAGCGGG	0.657000													38	20					0	0	0.004878	0	0
COL6A2	1292	broad.mit.edu	37	21	47542410	47542410	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47542410G>A	ENST00000300527.4	+	20	1677	c.1572_splice	c.e20-1	p.G525_splice	COL6A2_ENST00000397763.1_Splice_Site_p.G525_splice|COL6A2_ENST00000357838.4_Splice_Site_p.G525_splice|COL6A2_ENST00000409416.1_Splice_Site_p.G525_splice|COL6A2_ENST00000310645.5_Splice_Site_p.G525_splice	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	525	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)		TGCTTCACAGGGAGAAAAAGG	0.647000													9	91					0	0	0.001368	0	0
CELSR3	1951	broad.mit.edu	37	3	48696441	48696441	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48696441G>A	ENST00000544264.1	-	1	3907	c.3627C>T	c.(3625-3627)tcC>tcT	p.S1209S	CELSR3_ENST00000164024.4_Silent_p.S1209S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1209	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACGCTCAAAGGAGTAGAAGA	0.557000													9	33					0	0	0.006214	0	0
OR7G3	390883	broad.mit.edu	37	19	9236857	9236857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9236857C>T	ENST00000305444.2	-	1	769	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGGTACACCCCAAACCCTGT	0.463000													18	53					0	0	0.007413	0	0
TAF15	8148	broad.mit.edu	37	17	34169391	34169391	+	Missense_Mutation	SNP	A	A	G	rs144520577	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:34169391A>G	ENST00000588240.1	+	12	1049	c.934A>G	c.(934-936)Atc>Gtc	p.I312V	TAF15_ENST00000311979.3_Missense_Mutation_p.I309V|TAF15_ENST00000592237.1_Missense_Mutation_p.I221V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	312	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCATGGCAACATCATTAAAGT	0.433000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								28	17					0	0	0.001786	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807286	15807286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15807286C>A	ENST00000550308.1	+	12	1741	c.1361C>A	c.(1360-1362)tCa>tAa	p.S454*	CYP4F12_ENST00000324632.9_Nonsense_Mutation_p.S454*	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AAGGGGAGGTCACCTCTGGCT	0.557000													38	144					4.42602e-33	8.98744e-33	0.001951	1	0
ABCA3	21	broad.mit.edu	37	16	2333216	2333216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2333216G>A	ENST00000301732.5	-	26	4706	c.4006C>T	c.(4006-4008)Ctc>Ttc	p.L1336F	ABCA3_ENST00000382381.3_Missense_Mutation_p.L1278F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1336					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGCGCAGAGGATGCCCCTG	0.657000													10	36					0	0	0.000978	0	0
FGFR2	2263	broad.mit.edu	37	10	123244938	123244938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:123244938C>T	ENST00000358487.5	-	16	2438	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	FGFR2_ENST00000369059.1_Missense_Mutation_p.M608I|FGFR2_ENST00000369061.4_Missense_Mutation_p.M610I|FGFR2_ENST00000351936.6_Missense_Mutation_p.M720I|FGFR2_ENST00000457416.2_Missense_Mutation_p.M723I|FGFR2_ENST00000369060.4_Missense_Mutation_p.M606I|FGFR2_ENST00000356226.4_Missense_Mutation_p.M605I|FGFR2_ENST00000478859.1_Missense_Mutation_p.M494I|FGFR2_ENST00000346997.2_Missense_Mutation_p.M720I|FGFR2_ENST00000360144.3_Missense_Mutation_p.M634I|FGFR2_ENST00000357555.5_Missense_Mutation_p.M633I|FGFR2_ENST00000369056.1_Missense_Mutation_p.M723I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	722	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGGCTTATCCATTCTGTGTC	0.527000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				20	30					0	0	0.001882	0	0
FAM161B	145483	broad.mit.edu	37	14	74411285	74411285	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:74411285G>A	ENST00000286544.3	-	3	1065	c.867C>T	c.(865-867)taC>taT	p.Y289Y	FAM161B_ENST00000534936.1_Silent_p.Y226Y	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGAGGGGCAGGTAGACATGTG	0.617000													21	101					0	0	0.001882	0	0
KCND1	3750	broad.mit.edu	37	X	48823430	48823430	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48823430A>G	ENST00000218176.3	-	2	2502	c.1205T>C	c.(1204-1206)cTg>cCg	p.L402P	KCND1_ENST00000376477.1_Missense_Mutation_p.L25P	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	402						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGGCACAGGCAGGGCAATGAC	0.582000													13	42					0	0	0.002450	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299239	125299239	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:125299239G>A	ENST00000538699.1	-	2	749	c.669C>T	c.(667-669)gaC>gaT	p.D223D	DCAF12L2_ENST00000360028.2_Silent_p.D223D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	223										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ACATGTCTGGGTCCATCCGCC	0.632000													15	62					0	0	0.003163	0	0
PDZD2	23037	broad.mit.edu	37	5	32087696	32087696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:32087696G>A	ENST00000438447.1	+	20	4530	c.4142G>A	c.(4141-4143)gGa>gAa	p.G1381E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1381E			O15018	PDZD2_HUMAN	PDZ domain containing 2	1381					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCTGGAGGGAGCAGATTCT	0.582000													24	12					0	0	0.002780	0	0
FAM9A	171482	broad.mit.edu	37	X	8766190	8766190	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:8766190C>T	ENST00000543214.1	-	5	509		c.e5+1		FAM9A_ENST00000381003.3_Splice_Site	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A							nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTAAAACATACCTGCAATATG	0.318000													7	24					0	0	0.003080	0	0
PDE1C	5137	broad.mit.edu	37	7	31918623	31918623	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:31918623C>T	ENST00000396184.3	-	5	615	c.411G>A	c.(409-411)ggG>ggA	p.G137G	PDE1C_ENST00000396191.1_Silent_p.G137G|PDE1C_ENST00000321453.7_Silent_p.G137G|PDE1C_ENST00000396193.1_Silent_p.G197G|PDE1C_ENST00000396182.2_Silent_p.G137G	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	137					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCACAAATATCCCAGCCTGCA	0.498000													9	36					0	0	0.000673	0	0
REXO1	57455	broad.mit.edu	37	19	1818751	1818751	+	Silent	SNP	G	G	C	rs148578959	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1818751G>C	ENST00000170168.4	-	9	2950	c.2856C>G	c.(2854-2856)ccC>ccG	p.P952P		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	952						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TTGCGCCCCCGGGCCGCTCTG	0.662000													18	19					0	0	0.007413	0	0
DHH	50846	broad.mit.edu	37	12	49484963	49484963	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:49484963G>A	ENST00000266991.2	-	2	819	c.513C>T	c.(511-513)ttC>ttT	p.F171F	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	171					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AGACCCAGTCGAAGCCGGCTT	0.597000													48	88					0	0	0.003610	0	0
ESX1	80712	broad.mit.edu	37	X	103499521	103499521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:103499521G>A	ENST00000372588.4	-	1	93	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	4					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TACCCGCGAAGAGACTCCATG	0.587000													91	167					0	0	0.003610	0	0
CACNA1D	776	broad.mit.edu	37	3	53757629	53757629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:53757629C>T	ENST00000288139.3	+	14	2013	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	CACNA1D_ENST00000422281.2_Missense_Mutation_p.P612L|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P612L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	612					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATCATGTCTCCCCTGGGGATC	0.463000													97	230					0	0	0.003610	0	0
MECOM	2122	broad.mit.edu	37	3	168834376	168834376	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:168834376C>T	ENST00000464456.1	-	7	1920	c.720G>A	c.(718-720)gaG>gaA	p.E240E	MECOM_ENST00000472280.1_Silent_p.E241E|MECOM_ENST00000468789.1_Silent_p.E240E|MECOM_ENST00000392736.3_Silent_p.E240E|MECOM_ENST00000460814.1_Silent_p.E240E|MECOM_ENST00000264674.3_Silent_p.E305E|MECOM_ENST00000433243.2_Silent_p.E241E|MECOM_ENST00000494292.1_Silent_p.E428E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTTCTTGCCCTCACAAAACC	0.448000													15	52					0	0	0.007413	0	0
CHIA	27159	broad.mit.edu	37	1	111862988	111862988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:111862988G>A	ENST00000369740.1	+	12	1434	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	CHIA_ENST00000343320.6_Missense_Mutation_p.R444K|CHIA_ENST00000353665.6_Missense_Mutation_p.R283K|CHIA_ENST00000483391.1_Missense_Mutation_p.R283K|CHIA_ENST00000451398.2_Missense_Mutation_p.R283K|CHIA_ENST00000430615.1_Missense_Mutation_p.R336K|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	444	Chitin-binding type-2.				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCAAATAACAGAAATGCCTTC	0.587000													6	9					0	0	0.001984	0	0
ENAM	10117	broad.mit.edu	37	4	71508070	71508070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71508070G>A	ENST00000396073.3	+	9	1208	c.927G>A	c.(925-927)tgG>tgA	p.W309*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	309					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATCCCATGGAGACCAAGTC	0.478000													6	8					0	0	0.001984	0	0
CAB39L	81617	broad.mit.edu	37	13	49885072	49885072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:49885072G>A	ENST00000355854.4	-	9	1389	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	CAB39L_ENST00000409308.1_Nonsense_Mutation_p.Q298*|CAB39L_ENST00000410043.1_Nonsense_Mutation_p.Q298*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.Q298*|CAB39L_ENST00000409130.1_Nonsense_Mutation_p.Q154*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	298					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AGTTTGGGCTGATTTTTTAAC	0.428000													94	235					0	0	0.003610	0	0
AOX1	316	broad.mit.edu	37	2	201460080	201460080	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:201460080C>T	ENST00000374700.2	+	3	430	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	63	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACCCCATCACCAAGAGGATAA	0.398000													6	14					0	0	0.001168	0	0
WDR64	128025	broad.mit.edu	37	1	241901671	241901671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:241901671C>T	ENST00000366552.2	+	10	1378	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	WDR64_ENST00000437684.2_Missense_Mutation_p.R391W	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	391										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCAGGTTTTCCGGGTGTGGGA	0.388000													6	14					0	0	0.004482	0	0
MFSD11	79157	broad.mit.edu	37	17	74740454	74740454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:74740454G>A	ENST00000588460.1	+	7	2589	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	MFSD11_ENST00000355954.3_Missense_Mutation_p.G131R|MFSD11_ENST00000593181.1_Missense_Mutation_p.G131R|MFSD11_ENST00000590514.1_Missense_Mutation_p.G183R|MFSD11_ENST00000586622.1_Missense_Mutation_p.G183R|MFSD11_ENST00000336509.4_Missense_Mutation_p.G183R	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	183						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TAGCCTTGTGGGGACAGTTCT	0.418000													26	59					0	0	0.005443	0	0
FLG	2312	broad.mit.edu	37	1	152286884	152286884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152286884C>T	ENST00000368799.1	-	3	513	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	160					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCA	0.338000									Ichthyosis				11	39					0	0	0.000978	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26221326	26221326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:26221326C>T	ENST00000380737.3	+	8	1221	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PPP2R2A_ENST00000315985.7_Nonsense_Mutation_p.R308*	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CCATAGTGGTCGATATATGAT	0.353000													35	31					0	0	0.006230	0	0
C11orf88	399949	broad.mit.edu	37	11	111385558	111385558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:111385558G>A	ENST00000529167.1	+	1	49	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.E17K|C11orf88_ENST00000332814.6_Missense_Mutation_p.E17K			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	17										endometrium(1)|large_intestine(3)|lung(2)	6						AGAGTCCCAGGAAATGTGCCC	0.602000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	51					0	0	0.004289	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687577	151687577	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:151687577G>A	ENST00000325144.4	-	3	764	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAACAGGAGTGGAAACAAGTT	0.572000													9	8					0	0	0.006214	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460927	70460927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:70460927C>T	ENST00000503640.1	-	4	1092	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	UGT2A1_ENST00000512704.1_Missense_Mutation_p.G302E|UGT2A1_ENST00000286604.4_Missense_Mutation_p.G346E|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G512E|UGT2A2_ENST00000457664.2_Missense_Mutation_p.G355E|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	346					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTATTGTTTCCTAATGTGGC	0.383000													5	5					0	0	0.001984	0	0
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:89480399G>A	ENST00000336596.2	+	13	2461	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D746N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	746	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTTCACCGAGACCTCGCTGC	0.498000										TSP Lung(6;0.00050)			4	9					0	0	0.000248	0	0
ERBB4	2066	broad.mit.edu	37	2	212285327	212285327	+	Missense_Mutation	SNP	G	G	A	rs143134749		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:212285327G>A	ENST00000342788.4	-	25	3284	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	ERBB4_ENST00000436443.1_Missense_Mutation_p.R992C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R982C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	992					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGCTTCATACGATCATCACCC	0.368000										TSP Lung(8;0.080)			11	30					0	0	0.002450	0	0
TLR1	7096	broad.mit.edu	37	4	38798109	38798109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:38798109C>T	ENST00000308979.2	-	4	2617	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	TLR1_ENST00000502213.2_Missense_Mutation_p.E782K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	782					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGCTTGCTCTGTCAGCTTA	0.398000													7	9					0	0	0.006214	0	0
VWA9	81556	broad.mit.edu	37	15	65871822	65871822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:65871822G>A	ENST00000395644.4	-	12	1816	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	VWA9_ENST00000420799.2_Missense_Mutation_p.S437F|VWA9_ENST00000569491.1_Missense_Mutation_p.S444F|VWA9_ENST00000442903.3_Missense_Mutation_p.S458F|VWA9_ENST00000313182.2_Missense_Mutation_p.S494F|VWA9_ENST00000567744.1_Missense_Mutation_p.S530F|VWA9_ENST00000431261.2_Missense_Mutation_p.S415F					von Willebrand factor A domain containing 9																		GGCATACTCAGAGGTGCCGGT	0.537000													24	30					0	0	0.006320	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231752	142231752	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142231752G>A	ENST00000519067.1	-	2	504	c.201C>T	c.(199-201)cgC>cgT	p.R67R	SLC45A4_ENST00000517878.1_Silent_p.R118R|SLC45A4_ENST00000024061.3_Silent_p.R67R|SLC45A4_ENST00000433583.2_Silent_p.R60R			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	118					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGGCCGCCGGCGGCCCCAGC	0.607000													37	136					0	0	0.002222	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52947568	52947568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:52947568C>T	ENST00000371544.3	-	10	1805	c.1543G>A	c.(1543-1545)Ggt>Agt	p.G515S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.G515S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	515					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGGATTCCACCATCAGTTTGG	0.363000													24	1					0	0	0.004656	0	0
COL4A5	1287	broad.mit.edu	37	X	107911600	107911600	+	Missense_Mutation	SNP	C	C	T	rs104886391		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107911600C>T	ENST00000328300.6	+	41	3900	c.3656C>T	c.(3655-3657)cCa>cTa	p.P1219L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1219L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1219	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGCCTTCCAGGTCCAAAG	0.517000									Alport syndrome with Diffuse Leiomyomatosis				5	9					0	0	0.001984	0	0
ZNF527	84503	broad.mit.edu	37	19	37870059	37870059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:37870059C>T	ENST00000436120.2	+	3	178	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF527_ENST00000587349.1_Missense_Mutation_p.S24F|ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000483919.1_Missense_Mutation_p.S24F	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTAGACTTTTCCCAAGAAGAG	0.438000													17	49					0	0	0.007413	0	0
ABCC1	4363	broad.mit.edu	37	16	16138457	16138457	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16138457C>T	ENST00000399408.2	+	8	1135	c.960C>T	c.(958-960)acC>acT	p.T320T	ABCC1_ENST00000351154.5_Silent_p.T320T|ABCC1_ENST00000349029.5_Silent_p.T320T|ABCC1_ENST00000399410.3_Silent_p.T320T|ABCC1_ENST00000345148.5_Silent_p.T320T|ABCC1_ENST00000346370.5_Silent_p.T320T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	320					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TATACAAGACCTTTGGGCCCT	0.512000													14	24					0	0	0.002450	0	0
GABRD	2563	broad.mit.edu	37	1	1961505	1961505	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:1961505C>T	ENST00000378585.4	+	9	1226	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	381						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCCGGCAGCGCCGCGTCCCGG	0.692000													17	2					0	0	0.006122	0	0
NLRC5	84166	broad.mit.edu	37	16	57099124	57099124	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:57099124G>A	ENST00000436936.1	+	33	4380	c.4154_splice	c.e33-1	p.R1385_splice	NLRC5_ENST00000308149.7_Splice_Site_p.R1356_splice|NLRC5_ENST00000262510.6_Splice_Site_p.R1385_splice|NLRC5_ENST00000539144.1_Splice_Site_p.R1356_splice			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1385					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCTGTGACAGGGTGCAGGAGC	0.612000													7	16					0	0	0.003080	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999153	92999153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:92999153C>T	ENST00000523629.1	-	8	1493	c.1039G>A	c.(1039-1041)Gac>Aac	p.D347N	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D347N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D310N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D320N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D310N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D320N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D358N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D310N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	347	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CATTCTCTGTCTGTTAGTCTG	0.388000													23	27					0	0	0.003954	0	0
PRSS37	136242	broad.mit.edu	37	7	141539279	141539279	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141539279C>T	ENST00000350549.3	-	2	406	c.34_splice	c.e2-1	p.G12_splice	PRSS37_ENST00000438520.1_Splice_Site_p.G12_splice	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	12					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GAAAAATGTCCCTGAGAAAAT	0.368000													15	12					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228466522	228466522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:228466522C>T	ENST00000570156.2	+	31	8353	c.8279C>T	c.(8278-8280)cCc>cTc	p.P2760L	OBSCN_ENST00000284548.11_Missense_Mutation_p.P2331L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P1178L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P2331L|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1761	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCTGCAGCCCGGGCCCAAG	0.627000													12	37					0	0	0.002450	0	0
NRG1	3084	broad.mit.edu	37	8	32505250	32505250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:32505250C>T	ENST00000520502.2	+	1	14	c.14C>T	c.(13-15)tCc>tTc	p.S5F	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGATTTATTCCCCAGACATG	0.582000													33	51					0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9091402	9091402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9091402C>T	ENST00000397910.4	-	1	616	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	138	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAAAATTTCCTTCTGTGGA	0.493000													13	31					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82595633	82595633	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82595633C>T	ENST00000423517.2	-	4	3808	c.3471G>A	c.(3469-3471)gtG>gtA	p.V1157V	PCLO_ENST00000333891.8_Silent_p.V1157V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1096					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						CTTGCTTTTTCACTAATTTTA	0.398000													6	37					0	0	0.001984	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366789	23366789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:23366789G>A	ENST00000343070.2	+	4	931	c.755G>A	c.(754-756)gGa>gAa	p.G252E	SCNN1B_ENST00000568085.1_Missense_Mutation_p.G252E|SCNN1B_ENST00000568923.1_Missense_Mutation_p.G225E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.G297E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	252					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCCTATTCGGAGCTGAGCCC	0.617000													14	37					0	0	0.001855	0	0
DALRD3	55152	broad.mit.edu	37	3	49055845	49055845	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49055845G>A	ENST00000341949.4	-	1	159	c.153C>T	c.(151-153)ttC>ttT	p.F51F	DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000441576.2_Silent_p.F51F|DALRD3_ENST00000496568.1_Intron|DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000313778.5_Intron	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	51					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCGTCATCGAAGCGCGCCT	0.731000													4	4					0	0	0.001168	0	0
OR51G2	81282	broad.mit.edu	37	11	4936407	4936407	+	Missense_Mutation	SNP	G	G	A	rs35090253		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4936407G>A	ENST00000322013.3	-	1	515	c.487C>T	c.(487-489)Cca>Tca	p.P163S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGTAATGGAAAAATGAGT	0.473000													3	10					0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10300222	10300222	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10300222C>T	ENST00000403437.2	-	31	4354	c.4260G>A	c.(4258-4260)acG>acA	p.T1420T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					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						GCCGCTGCTTCGTCTTCTCAA	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				21	66					0	0	0.002299	0	0
FAM105A	54491	broad.mit.edu	37	5	14602344	14602344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:14602344G>A	ENST00000274217.3	+	5	521	c.401G>A	c.(400-402)aGg>aAg	p.R134K		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	134										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CGACAAGTAAGGAGAGATAAC	0.358000													11	32					0	0	0.000978	0	0
FLG	2312	broad.mit.edu	37	1	152276532	152276532	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152276532C>T	ENST00000368799.1	-	3	10865	c.10830G>A	c.(10828-10830)caG>caA	p.Q3610Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATGCAGCCTGTCCACCAG	0.567000									Ichthyosis				47	191					0	0	0.003610	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802818	96802818	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96802818C>T	ENST00000371270.3	-	7	1072	c.978G>A	c.(976-978)gaG>gaA	p.E326E	CYP2C8_ENST00000535898.1_Silent_p.E224E|CYP2C8_ENST00000539050.1_Silent_p.E240E	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	326					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.E326D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CATGATCAATCTCTTCCTGGA	0.438000													17	23					0	0	0.001882	0	0
NBAS	51594	broad.mit.edu	37	2	15432844	15432844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:15432844C>T	ENST00000281513.5	-	41	4869	c.4844G>A	c.(4843-4845)cGa>cAa	p.R1615Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R1495Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1615										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTGCTCATGTCGAGTCACATG	0.453000													38	30					0	0	0.002852	0	0
GPR61	83873	broad.mit.edu	37	1	110086695	110086695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:110086695G>A	ENST00000527748.1	+	2	1734	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	351						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GATCCGGGGGGAGCTCAGCAA	0.552000													56	8					0	0	0.003610	0	0
CANX	821	broad.mit.edu	37	5	179143198	179143198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:179143198C>T	ENST00000247461.4	+	8	1014	c.814C>T	c.(814-816)Cct>Tct	p.P272S	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Missense_Mutation_p.P272S|CANX_ENST00000504734.1_Missense_Mutation_p.P272S|CANX_ENST00000415618.2_Missense_Mutation_p.P307S|CANX_ENST00000512607.2_Missense_Mutation_p.P164S	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	272					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGTAAATCCTTCACGTGA	0.443000													24	38					0	0	0.004656	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38380460	38380460	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:38380460C>T	ENST00000329553.2	+	2	318	c.108C>T	c.(106-108)ccC>ccT	p.P36P	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GTTCCAGCCCCGCGCCGTGGC	0.577000													15	30					0	0	0.001216	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232780	61232780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:61232780G>A	ENST00000382768.1	+	6	808	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G250R			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	250					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GTACACCAAGGGGAAGCTCAG	0.438000													10	33					0	0	0.001368	0	0
SPAG4	6676	broad.mit.edu	37	20	34208851	34208851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34208851G>A	ENST00000374273.3	+	12	1333	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	407	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TAAGCAACTGGGGCCACCCCC	0.592000													26	103					0	0	0.004656	0	0
IRS4	8471	broad.mit.edu	37	X	107979468	107979468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107979468G>A	ENST00000372129.2	-	1	183	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	36						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGTTCCCGAGGAAAGAAGCGG	0.637000													22	67					0	0	0.002780	0	0
KMT2D	8085	broad.mit.edu	37	12	49445252	49445252	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:49445252G>A	ENST00000301067.7	-	10	2213	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGGCCCCTCGGACCGGGGGC	0.697000													29	49					0	0	0.007291	0	0
SIRPB2	284759	broad.mit.edu	37	20	1457961	1457961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:1457961C>T	ENST00000537284.1	-	5	803	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SIRPB2_ENST00000381630.1_Missense_Mutation_p.E197K|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000444444.1_Intron			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCATTGACTCCACTGAGGTG	0.552000													32	142					0	0	0.004289	0	0
ZNF296	162979	broad.mit.edu	37	19	45579360	45579360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45579360C>T	ENST00000303809.2	-	1	486	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	91					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CAACGGCGTCCACAGGGTCCA	0.741000													88	65					0	0	0.003610	0	0
MKNK2	2872	broad.mit.edu	37	19	2037813	2037813	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2037813G>A	ENST00000309340.7	-	14	1394	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000250896.3_3'UTR|MKNK2_ENST00000591142.1_Silent_p.F134F	NM_017572.3	NP_060042.2	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	0					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGGAGGAAGTGACTGT	0.547000													32	48					0	0	0.002445	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433955	37433955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:37433955G>A	ENST00000374660.1	+	8	1357	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E420K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E420K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAACAAGAGGAAGATGAAGA	0.264000													17	21					0	0	0.001523	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150528643	150528643	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150528643C>T	ENST00000271643.4	+	9	1613	c.1377C>T	c.(1375-1377)ccC>ccT	p.P459P	ADAMTSL4_ENST00000369041.5_Silent_p.P459P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.P482P|ADAMTSL4_ENST00000369038.2_Silent_p.P459P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	459					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCAGAGCCCCGGCTGTGATG	0.627000													55	56					0	0	0.003610	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189291	102189291	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:102189291C>T	ENST00000306176.1	+	9	1135	c.1035C>T	c.(1033-1035)ccC>ccT	p.P345P	ZPLD1_ENST00000466937.1_Silent_p.P329P|ZPLD1_ENST00000491959.1_Silent_p.P329P	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	329						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTGGAGCCCCCAGAGCTCTT	0.507000													6	18					0	0	0.003080	0	0
GNA11	2767	broad.mit.edu	37	19	3121077	3121077	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3121077A>G	ENST00000078429.4	+	7	1222	c.980A>G	c.(979-981)cAc>cGc	p.H327R	GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	327					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ATCTACTCACACTTCACGTGT	0.607000			Mis		uveal melanoma								11	57					0	0	0.000978	0	0
RFX2	5990	broad.mit.edu	37	19	5997151	5997151	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:5997151A>G	ENST00000303657.5	-	16	2082	c.1933T>C	c.(1933-1935)Tac>Cac	p.Y645H	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.Y645H|RFX2_ENST00000592546.1_Missense_Mutation_p.Y620H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACTCGTCGTAGAGCAGGCGG	0.662000													13	70					0	0	0.002450	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190617653	190617653	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:190617653A>C	ENST00000519810.1	-	7	1358	c.1016T>G	c.(1015-1017)aTt>aGt	p.I339S	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.I339S|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.I339S			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	339					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ATTTGTTAAAATTTCCAGAGC	0.408000													14	27					0	0	0.003163	0	0
CENPP	401541	broad.mit.edu	37	9	95373626	95373626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95373626G>A	ENST00000375587.3	+	6	1110	c.595G>A	c.(595-597)Gag>Aag	p.E199K	CENPP_ENST00000375579.3_Missense_Mutation_p.E26K|CENPP_ENST00000375576.1_Missense_Mutation_p.E13K	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	199					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GTACCTCTCGGAGGGGCCCTC	0.627000													54	25					0	0	0.003610	0	0
MMP1	4312	broad.mit.edu	37	11	102662173	102662173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102662173C>T	ENST00000315274.6	-	8	1154	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	363	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTGTAGATGTCCTTGGGGTAT	0.433000													28	73					0	0	0.003755	0	0
NEMF	9147	broad.mit.edu	37	14	50298783	50298783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:50298783C>T	ENST00000298310.5	-	10	1317	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	NEMF_ENST00000545773.1_Missense_Mutation_p.E248K|NEMF_ENST00000546046.1_Missense_Mutation_p.E290K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	290						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCAAATGATTCAAATTCTATA	0.323000													17	11					0	0	0.007413	0	0
GABRA3	2556	broad.mit.edu	37	X	151336952	151336952	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151336952C>T	ENST00000370314.4	-	10	1465	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K	GABRA3_ENST00000535043.1_Silent_p.K409K|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.K409K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	409					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTCAGTGTCCTTGGCCAGGT	0.542000													28	24					0	0	0.002445	0	0
FADS3	3995	broad.mit.edu	37	11	61643379	61643379	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:61643379C>T	ENST00000278829.2	-	11	1382	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	FADS3_ENST00000527697.1_Silent_p.K295K|FADS3_ENST00000525588.1_Silent_p.K382K|FADS3_ENST00000540820.1_3'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	410					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGAGGCCGTGCTTGGCACACA	0.657000													49	121					0	0	0.003610	0	0
ADAM21	8747	broad.mit.edu	37	14	70924999	70924999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70924999G>A	ENST00000603540.1	+	2	1041	c.783G>A	c.(781-783)tgG>tgA	p.W261*	ADAM21_ENST00000267499.3_Nonsense_Mutation_p.W261*|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	261	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGAAATTTGGAATCAAGGAA	0.373000													8	46					0	0	0.006214	0	0
SSTR1	6751	broad.mit.edu	37	14	38679290	38679290	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:38679290C>T	ENST00000267377.2	+	3	1313	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	232					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCATGGGCTTCCTGCTGCCCG	0.627000													24	89					0	0	0.002780	0	0
NDUFS8	4728	broad.mit.edu	37	11	67803945	67803945	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67803945T>G	ENST00000313468.5	+	7	625	c.518T>G	c.(517-519)tTc>tGc	p.F173C	NDUFS8_ENST00000528492.1_Missense_Mutation_p.F27C	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	173					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	AACTTTGAGTTCTCCACGGAG	0.637000													9	31					0	0	0.004482	0	0
MYH3	4621	broad.mit.edu	37	17	10543976	10543976	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10543976G>A	ENST00000583535.1	-	20	2280	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	MYH3_ENST00000226209.7_Silent_p.I731I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	731	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTCCCTCAGGGattgcactgg	0.438000													38	15					0	0	0.004878	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331246	17331246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17331246C>T	ENST00000452699.1	-	5	607	c.418G>A	c.(418-420)Ggt>Agt	p.G140S	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G140S|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G140S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	140					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TTCCAGGCACCCTCTGGTACC	0.652000													38	68					0	0	0.001951	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516357	138516357	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138516357G>A	ENST00000371763.1	-	5	670	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	139					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCACCTCTCGGTGCCCACTT	0.552000													9	14					0	0	0.006214	0	0
LZTS3	9762	broad.mit.edu	37	20	3145196	3145196	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:3145196G>A	ENST00000329152.3	-	3	3323	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A	LZTS3_ENST00000360342.3_Silent_p.A596A|LZTS3_ENST00000337576.5_Silent_p.A596A	NM_014731.2	NP_055546.1																					CACCCCCTGCGGCCCCGCGCT	0.642000													39	60					0	0	0.007835	0	0
DOCK4	9732	broad.mit.edu	37	7	111448896	111448896	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:111448896G>A	ENST00000428084.1	-	30	3419	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	AC003077.1_ENST00000452714.1_RNA|DOCK4_ENST00000437633.1_Silent_p.F1049F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1049					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCCACATGCTGAAAATTTCAC	0.403000													8	7					0	0	0.006214	0	0
HAAO	23498	broad.mit.edu	37	2	42994629	42994629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:42994629G>A	ENST00000294973.6	-	10	864	c.809C>T	c.(808-810)tCt>tTt	p.S270F		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	270	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.S270F(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CAGGGCCACAGAGCCTTGTGT	0.617000													18	27					0	0	0.002780	0	0
NPAP1	23742	broad.mit.edu	37	15	24923207	24923207	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24923207G>A	ENST00000329468.2	+	1	2667	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGGTTCTGGGAACACACAAC	0.537000													34	125					0	0	0.002096	0	0
TYR	7299	broad.mit.edu	37	11	88911329	88911329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:88911329C>T	ENST00000263321.5	+	1	710	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	70					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)	GCCTCAATTTCCCTTCACAGG	0.547000													12	29					0	0	0.001368	0	0
PTH2R	5746	broad.mit.edu	37	2	209309571	209309571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:209309571C>T	ENST00000272847.2	+	7	1025	c.812C>T	c.(811-813)tCg>tTg	p.S271L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	271						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCTTTCTTTTCGGACACCAAA	0.398000													30	102					0	0	0.002836	0	0
RTN1	6252	broad.mit.edu	37	14	60193852	60193852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60193852G>A	ENST00000267484.5	-	3	1885	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	517					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACCCGGCTCGGCCAGGCCCCG	0.716000													10	15					0	0	0.000673	0	0
TTC21B	79809	broad.mit.edu	37	2	166771803	166771803	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166771803G>A	ENST00000243344.7	-	15	2183	c.2046C>T	c.(2044-2046)gcC>gcT	p.A682A		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	682						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGGCTGTTCGGCTGTAACAT	0.383000													39	61					0	0	0.006230	0	0
ABCA11P	79963	broad.mit.edu	37	4	420218	420218	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:420218G>A	ENST00000451020.2	-	0	820					NR_002451.2																						CACCAATCATGAAATACTAAG	0.458000													10	9					0	0	0.000978	0	0
RYR1	6261	broad.mit.edu	37	19	38951024	38951024	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38951024C>T	ENST00000355481.4	+	20	2501	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	RYR1_ENST00000360985.3_Silent_p.F790F|RYR1_ENST00000359596.3_Silent_p.F790F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	790	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGTGCGGTTCCTCCTTGGTG	0.582000													69	47					0	0	0.003610	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109168	106109168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:106109168C>T	ENST00000357242.5	+	16	2741	c.2567C>T	c.(2566-2568)tCt>tTt	p.S856F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S850F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	856						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGGCTCATTCTGCAAATAAA	0.408000													60	73					0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247769009	247769009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247769009G>A	ENST00000320002.2	+	1	154	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACCCTTGTGGGAAACTTCACC	0.448000													47	38					0	0	0.003610	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111759	22111759	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22111759G>A	ENST00000390423.2	+	0	363																											TCCTTTTGAAGGAGCTCCAGA	0.453000													17	84					0	0	0.004990	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858152	18858152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18858152G>A	ENST00000266505.7	-	7	1075	c.812C>T	c.(811-813)tCc>tTc	p.S271F	PLCZ1_ENST00000447925.2_Missense_Mutation_p.S269F|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S76F|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S134F|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S78F|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S12F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	271	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AGAAAGCAAGGACTCTCCAAA	0.403000													21	52					0	0	0.001523	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722768	64722768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:64722768G>A	ENST00000338957.4	+	5	2257	c.2190G>A	c.(2188-2190)tgG>tgA	p.W730*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.W719*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	719							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCCAGCTGGGACCCGCTGC	0.567000													3	4					0	0	0.004672	0	0
DIEXF	27042	broad.mit.edu	37	1	210014265	210014265	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:210014265T>C	ENST00000491415.2	+	8	1407	c.1350T>C	c.(1348-1350)gcT>gcC	p.A450A		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	450					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCCTCATTGCTTCCCCCCTGG	0.463000													18	24					0	0	0.001216	0	0
KEL	3792	broad.mit.edu	37	7	142651026	142651026	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142651026G>A	ENST00000355265.2	-	9	1416	c.942C>T	c.(940-942)atC>atT	p.I314I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	314					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACAACCAGTCGATGGCGGGGG	0.522000													15	40					0	0	0.002450	0	0
ZNF708	7562	broad.mit.edu	37	19	21476296	21476296	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:21476296A>G	ENST00000356929.3	-	4	1669	c.1472T>C	c.(1471-1473)cTt>cCt	p.L491P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATGTGTAGTAAGATGAGAGGA	0.333000													11	36					0	0	0.001855	0	0
DPYD	1806	broad.mit.edu	37	1	98164965	98164965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:98164965G>A	ENST00000370192.3	-	6	722	c.622C>T	c.(622-624)Cga>Tga	p.R208*	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	208					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TACCCCAATCGAGCCAAAAAG	0.393000													11	10					0	0	0.000978	0	0
FLCN	201163	broad.mit.edu	37	17	17122419	17122419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17122419G>A	ENST00000285071.4	-	9	1430	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	326					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACTCTGCCGGGCCCTGGGTC	0.622000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				115	82					0	0	0.003610	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595626	44595626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:44595626G>A	ENST00000245121.5	+	9	839	c.645G>A	c.(643-645)tgG>tgA	p.W215*	KATNAL2_ENST00000356157.7_Nonsense_Mutation_p.W287*|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	287						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TTTCTCCCTGGAAAGGACTAC	0.468000													8	27					0	0	0.004482	0	0
CDH22	64405	broad.mit.edu	37	20	44869684	44869684	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:44869684G>A	ENST00000372262.3	-	2	868	c.468C>T	c.(466-468)atC>atT	p.I156I	CDH22_ENST00000537909.1_Silent_p.I156I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	156	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGCACCTTGATGATGAACT	0.642000													25	106					0	0	0.005443	0	0
NPAS1	4861	broad.mit.edu	37	19	47548460	47548460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:47548460C>T	ENST00000602212.1	+	12	1544	c.1324C>T	c.(1324-1326)Ccg>Tcg	p.P442S	NPAS1_ENST00000449844.2_Missense_Mutation_p.P442S|NPAS1_ENST00000602189.1_Missense_Mutation_p.P267S|NPAS1_ENST00000439365.2_3'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	442					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GCCGGAGCCTCCGACGGAAGG	0.637000													9	28					0	0	0.004482	0	0
IKZF4	64375	broad.mit.edu	37	12	56427098	56427098	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56427098G>A	ENST00000262032.5	+	11	1357	c.990G>A	c.(988-990)aaG>aaA	p.K330K	IKZF4_ENST00000547791.1_Silent_p.K285K|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Silent_p.K330K|IKZF4_ENST00000431367.2_Silent_p.K228K			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	330					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACCCCAGAAGTTTGTAGGTA	0.493000													54	111					0	0	0.003610	0	0
MUC5B	727897	broad.mit.edu	37	11	1272698	1272698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1272698C>T	ENST00000447027.1	+	31	14655	c.14597C>T	c.(14596-14598)tCc>tTc	p.S4866F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4863F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4863	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACCGGTTCCACGGCCACC	0.652000													10	41					0	0	0.000673	0	0
SIN3A	25942	broad.mit.edu	37	15	75674004	75674004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:75674004C>T	ENST00000394947.3	-	18	3552	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	SIN3A_ENST00000394949.4_Missense_Mutation_p.E1080K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E1080K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1080					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCAGAAGCTCAATAGTCAGC	0.483000													25	99					0	0	0.007291	0	0
CASP10	843	broad.mit.edu	37	2	202052438	202052438	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:202052438C>T	ENST00000286186.6	+	3	792	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CASP10_ENST00000360132.3_Silent_p.L119L|CASP10_ENST00000272879.5_Silent_p.L119L|CASP10_ENST00000374650.3_Silent_p.L119L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Silent_p.L119L|CASP10_ENST00000346817.5_Silent_p.L119L|CASP10_ENST00000313728.7_Silent_p.L119L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	119	DED 2.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GAAACCTGCTCTACGAACTGT	0.403000													16	53					0	0	0.007413	0	0
IGFBP2	3485	broad.mit.edu	37	2	217525339	217525339	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:217525339A>G	ENST00000233809.4	+	2	631	c.502A>G	c.(502-504)Aac>Gac	p.N168D	IGFBP2_ENST00000456764.1_Missense_Mutation_p.N24D	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	168					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGCACCATGAACATGTTGGG	0.597000													15	21					0	0	0.004990	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967678	161967678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:161967678C>T	ENST00000294794.3	-	6	1834	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.G472R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	471										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGGTTGTTCCCCACCCAGCA	0.567000													45	164					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8609078	8609078	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:8609078G>A	ENST00000378641.3	+	4	859	c.384_splice	c.e4+1	p.K128_splice	PLCB1_ENST00000338037.6_Splice_Site_p.K128_splice|PLCB1_ENST00000378637.2_Splice_Site_p.K128_splice	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	128					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGTGGCCAAGGTATGGTGGA	0.453000													29	31					0	0	0.003755	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777745	56777745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:56777745G>A	ENST00000423391.1	-	1	891	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	264						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AAGGAAGGCTGGAAAATGGCT	0.517000													8	14					0	0	0.003080	0	0
MIR520A	574467	broad.mit.edu	37	19	54194202	54194202	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54194202G>A	ENST00000384862.1	+	0	68					NR_030189.1																						GCTTCCCTTTGGACTGTTTCG	0.458000													14	34					0	0	0.004990	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316153	73316153	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:73316153C>G	ENST00000258098.6	-	2	962	c.722G>C	c.(721-723)cGc>cCc	p.R241P	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	241					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGACGACTTGCGCAGCTTGTT	0.642000													29	105					0	0	0.002096	0	0
CARD10	29775	broad.mit.edu	37	22	37887776	37887776	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:37887776A>G	ENST00000403299.1	-	20	3066	c.2850T>C	c.(2848-2850)aaT>aaC	p.N950N	CARD10_ENST00000406271.3_Silent_p.N664N|CARD10_ENST00000251973.5_Silent_p.N950N			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	950					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTCCCGGACATTCTTCTCAG	0.627000													12	41					0	0	0.002450	0	0
RP1	6101	broad.mit.edu	37	8	55533781	55533781	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55533781C>T	ENST00000220676.1	+	2	403	c.255C>T	c.(253-255)acC>acT	p.T85T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	85	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACATCAGCACCCCTCGGGGCA	0.597000													54	67					0	0	0.003610	0	0
ZNF236	7776	broad.mit.edu	37	18	74593298	74593298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:74593298C>T	ENST00000253159.8	+	9	1439	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	ZNF236_ENST00000320610.9_Missense_Mutation_p.S416F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	414					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTAATGACTCCTGCCATGCC	0.478000													27	66					0	0	0.002096	0	0
AGAP1	116987	broad.mit.edu	37	2	237032730	237032730	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:237032730G>A	ENST00000409538.1	+	17	3670	c.3174G>A	c.(3172-3174)cgG>cgA	p.R1058R	AGAP1_ENST00000304032.7_Silent_p.R846R|AGAP1_ENST00000336665.5_Silent_p.R793R|AGAP1_ENST00000428334.2_Silent_p.R685R			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	846					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAATAACCGGAACAACAGCA	0.647000													23	32					0	0	0.003330	0	0
RP1L1	94137	broad.mit.edu	37	8	10464762	10464762	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:10464762G>A	ENST00000382483.3	-	4	7069	c.6846C>T	c.(6844-6846)tcC>tcT	p.S2282S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2282					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCACCTGGGGAAGGGGGTG	0.597000													143	148					0	0	0.003610	0	0
ARSE	415	broad.mit.edu	37	X	2876406	2876406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:2876406C>T	ENST00000545496.1	-	4	460	c.169G>A	c.(169-171)Gac>Aac	p.D57N	ARSE_ENST00000540563.1_Intron|ARSE_ENST00000381134.3_Missense_Mutation_p.D32N			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	32					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGAAATGTCGCTGGAAGCT	0.557000													14	47					0	0	0.001855	0	0
SPSB4	92369	broad.mit.edu	37	3	140785549	140785549	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:140785549C>T	ENST00000310546.2	+	2	1347	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	201	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCGTGGCCTTCCGAGGTCTCA	0.607000													16	40					0	0	0.004990	0	0
COL14A1	7373	broad.mit.edu	37	8	121211733	121211733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:121211733G>A	ENST00000297848.3	+	8	1075	c.805G>A	c.(805-807)Gga>Aga	p.G269R	COL14A1_ENST00000537875.1_Missense_Mutation_p.G269R|COL14A1_ENST00000309791.4_Missense_Mutation_p.G269R|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	269	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCACAGATGGAAAATCCCA	0.378000													19	40					0	0	0.007413	0	0
RAG1	5896	broad.mit.edu	37	11	36597162	36597162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:36597162G>A	ENST00000299440.5	+	2	2420	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	770					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCTTACCATGAGTCTGTGGA	0.498000									Familial Hemophagocytic Lymphohistiocytosis				10	10					0	0	0.000673	0	0
SNTG2	54221	broad.mit.edu	37	2	1168823	1168823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:1168823C>T	ENST00000308624.5	+	8	674	c.545C>T	c.(544-546)cCc>cTc	p.P182L	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	182					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCCTCCTCTCCCCTCTTTGAC	0.478000													65	120					0	0	0.003610	0	0
CHAT	1103	broad.mit.edu	37	10	50870726	50870726	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:50870726G>A	ENST00000395562.2	+	15	2098	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L	CHAT_ENST00000395559.2_Silent_p.L507L|CHAT_ENST00000455728.2_Silent_p.L507L|CHAT_ENST00000337653.2_Silent_p.L625L|CHAT_ENST00000351556.3_Silent_p.L507L|CHAT_ENST00000339797.1_Silent_p.L507L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	625					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACCACCTGCTGGCACTGCGGG	0.577000													52	6					0	0	0.003610	0	0
NEDD4	4734	broad.mit.edu	37	15	56207725	56207725	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:56207725G>A	ENST00000508342.1	-	1	1604	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	NEDD4_ENST00000506154.1_Silent_p.I435I|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.I435I			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	435					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATTCTCCATTGATATTTATTT	0.348000													40	59					0	0	0.001951	0	0
STK31	56164	broad.mit.edu	37	7	23809272	23809272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:23809272C>T	ENST00000354639.3	+	13	2005	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	STK31_ENST00000433467.2_Missense_Mutation_p.S537F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.S537F|STK31_ENST00000428484.1_Missense_Mutation_p.S514F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	537							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGACCTATCTGTGGAAGGA	0.373000													12	38					0	0	0.003163	0	0
EML1	2009	broad.mit.edu	37	14	100363618	100363618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:100363618G>A	ENST00000262233.6	+	7	953	c.814G>A	c.(814-816)Gat>Aat	p.D272N	EML1_ENST00000327921.9_Missense_Mutation_p.D260N|EML1_ENST00000334192.4_Missense_Mutation_p.D291N	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	272						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGCCACAACGATGACGTGAA	0.552000													17	51					0	0	0.001882	0	0
TRIO	7204	broad.mit.edu	37	5	14280515	14280515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:14280515G>A	ENST00000344204.4	+	3	341	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TRIO_ENST00000537187.1_Missense_Mutation_p.R106K|TRIO_ENST00000509967.2_Missense_Mutation_p.R57K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	106	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCTCAGGAGACTCATTTCC	0.453000													6	24					0	0	0.001984	0	0
PORCN	64840	broad.mit.edu	37	X	48374289	48374289	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48374289C>T	ENST00000367574.4	+	10	1294	c.789C>T	c.(787-789)ttC>ttT	p.F263F	PORCN_ENST00000355961.4_Silent_p.F340F|PORCN_ENST00000537758.1_Silent_p.F345F|PORCN_ENST00000326194.6_Silent_p.F345F|PORCN_ENST00000361988.3_Silent_p.F334F|PORCN_ENST00000359882.4_Silent_p.F339F|PORCN_ENST00000355092.3_Silent_p.F339F			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	345					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTTCAGTTTCCACCTGGCTG	0.612000													14	12					0	0	0.004007	0	0
NOMO2	283820	broad.mit.edu	37	16	18549918	18549918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:18549918G>A	ENST00000330537.6	-	11	1320	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	NOMO2_ENST00000381474.3_Missense_Mutation_p.L384F|NOMO2_ENST00000543392.1_Missense_Mutation_p.L217F	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	384						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCAAAGTAGAGGTGCTCTTTC	0.448000													39	65					0	0	0.003610	0	0
CECR1	51816	broad.mit.edu	37	22	17688074	17688074	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:17688074G>A	ENST00000399839.1	-	3	699	c.429C>T	c.(427-429)atC>atT	p.I143I	CECR1_ENST00000399837.2_Silent_p.I143I|CECR1_ENST00000449907.2_Silent_p.I101I|CECR1_ENST00000262607.3_Silent_p.I143I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	143	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGAACTGCATGATCCCCCTTG	0.527000													58	57					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55534689	55534689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55534689C>T	ENST00000220676.1	+	3	776	c.628C>T	c.(628-630)Cag>Tag	p.Q210*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	210	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCCCAGCCTCCAGGCAGTGAT	0.423000													28	78					0	0	0.002445	0	0
POLR3A	11128	broad.mit.edu	37	10	79781316	79781316	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:79781316A>T	ENST00000372371.3	-	8	1310	c.1173T>A	c.(1171-1173)acT>acA	p.T391T		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	391					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTCAGGAAAAGTTAGAATTT	0.423000													13	13					0	0	0.002450	0	0
PELP1	27043	broad.mit.edu	37	17	4578109	4578109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:4578109G>A	ENST00000301396.4	-	12	2074	c.1849C>T	c.(1849-1851)Ctt>Ttt	p.L617F	PELP1_ENST00000574876.1_Missense_Mutation_p.L473F|PELP1_ENST00000572293.1_Missense_Mutation_p.L523F|PELP1_ENST00000436683.2_Missense_Mutation_p.L326F|PELP1_ENST00000269230.7_Missense_Mutation_p.L471F			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	473					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCACCTTAAGGGCATCAGCT	0.617000													18	49					0	0	0.007413	0	0
KLK5	25818	broad.mit.edu	37	19	51452022	51452022	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51452022G>A	ENST00000336334.3	-	5	952	c.600C>T	c.(598-600)ttC>ttT	p.F200F	KLK5_ENST00000593428.1_Silent_p.F200F|KLK5_ENST00000391809.2_Silent_p.F200F	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	200	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGACCTTAGGGAAGTGCACTG	0.517000													20	43					0	0	0.001523	0	0
OR6C4	341418	broad.mit.edu	37	12	55945751	55945751	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:55945751C>T	ENST00000394256.2	+	1	769	c.741C>T	c.(739-741)tcC>tcT	p.S247S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTGTCATCTCCCTCTCTTATG	0.423000													6	13					0	0	0.003080	0	0
AK7	122481	broad.mit.edu	37	14	96953234	96953234	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:96953234G>A	ENST00000267584.4	+	17	2018		c.e17-1			NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7						cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTCTATTTTAGAATAAACGAC	0.398000													14	21					0	0	0.002450	0	0
OR8H3	390152	broad.mit.edu	37	11	55890508	55890508	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55890508C>T	ENST00000313472.3	+	1	660	c.660C>T	c.(658-660)tcC>tcT	p.S220S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCTATGTGTCCATTCTCTCTA	0.433000													20	15					0	0	0.002780	0	0
FAM45B	55855	broad.mit.edu	37	X	129629187	129629187	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129629187G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CGGGCTGATCGAAAAGGACAC	0.532000													35	75					0	0	0.003755	0	0
MYH6	4624	broad.mit.edu	37	14	23855140	23855140	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23855140G>A	ENST00000405093.3	-	34	5230	c.5160C>T	c.(5158-5160)tcC>tcT	p.S1720S	MYH6_ENST00000356287.3_Silent_p.S1720S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1720					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCTCACCTGGGAATGCAGCA	0.602000													23	70					0	0	0.001512	0	0
ITGAM	3684	broad.mit.edu	37	16	31273024	31273024	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:31273024T>A	ENST00000544665.3	+	2	111	c.40T>A	c.(40-42)Tgt>Agt	p.C14S	ITGAM_ENST00000287497.8_Missense_Mutation_p.C14S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	14					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTGACCTTATGTCATGGGTT	0.537000													5	7					0	0	0.001168	0	0
OR10H1	26539	broad.mit.edu	37	19	15918158	15918158	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15918158A>T	ENST00000334920.2	-	1	778	c.690T>A	c.(688-690)ccT>ccA	p.P230P		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CTTCAGCAGAAGGGATCTTCA	0.567000													42	59					0	0	0.003610	0	0
HMHA1	23526	broad.mit.edu	37	19	1068553	1068553	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1068553C>T	ENST00000313093.2	+	2	462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Silent_p.F81F|HMHA1_ENST00000539243.2_Silent_p.F93F|HMHA1_ENST00000590214.1_Silent_p.F104F	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	77					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CGGCTGGCTTCCCCCTGTCGG	0.761000													11	15					0	0	0.000978	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871792	8871792	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:8871792G>A	ENST00000256707.3	-	30	4555	c.4374C>T	c.(4372-4374)atC>atT	p.I1458I	KIDINS220_ENST00000418530.1_Silent_p.I1359I|KIDINS220_ENST00000473731.1_Silent_p.I1439I|KIDINS220_ENST00000427284.1_Silent_p.I1439I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1458					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)					ATGAATAATCGATAACATCTC	0.453000													86	37					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21630810	21630810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21630810G>A	ENST00000328843.6	+	14	2313	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G761E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	761	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G761E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGTACATTGGAAATCTTGAC	0.363000									Kartagener syndrome				6	20					0	0	0.003080	0	0
CHD4	1108	broad.mit.edu	37	12	6705270	6705270	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:6705270G>A	ENST00000309577.6	-	13	2089	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	CHD4_ENST00000544484.1_Silent_p.I639I|CHD4_ENST00000357008.2_Silent_p.I642I|CHD4_ENST00000544040.1_Silent_p.I635I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	642	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCCGCCACTTGATCAAGTAGT	0.507000													41	53					0	0	0.007835	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965049	88965049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:88965049G>A	ENST00000333190.4	+	4	3362	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	918						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTGCAGAAGGAGAGAGGACC	0.423000										HNSCC(36;0.09)			28	90					0	0	0.001786	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244405	1244405	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1244405C>T	ENST00000324642.3	+	10	1536	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	SLC6A18_ENST00000296821.4_Silent_p.F369F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	471					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGAGATTTTCGACAATTTTG	0.577000													67	120					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90144463	90144463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:90144463G>A	ENST00000405460.2	+	79	17125	c.17029G>A	c.(17029-17031)Gaa>Aaa	p.E5677K	GPR98_ENST00000425867.2_Missense_Mutation_p.E1338K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5677					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATAACTACTGAAGGAAAAAT	0.308000													6	6					0	0	0.001168	0	0
KIF27	55582	broad.mit.edu	37	9	86452022	86452022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:86452022G>A	ENST00000297814.2	-	18	4243	c.4100C>T	c.(4099-4101)tCc>tTc	p.S1367F	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.S1270F|KIF27_ENST00000413982.1_Missense_Mutation_p.S1301F|RP11-575L7.2_ENST00000439378.3_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1367					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCCAAGGCGGAAATTTGACG	0.448000													23	15					0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9010671	9010671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9010671G>A	ENST00000397910.4	-	38	39193	c.38990C>T	c.(38989-38991)cCa>cTa	p.P12997L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12999					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGGAGGATGGAGTCCCTGA	0.498000													5	6					0	0	0.000602	0	0
HECW2	57520	broad.mit.edu	37	2	197081817	197081817	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:197081817C>T	ENST00000260983.2	-	27	4591	c.4408_splice	c.e27-1	p.G1470_splice	HECW2_ENST00000409111.1_Splice_Site_p.G1114_splice	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1470	HECT.				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						GTCATGGTATCCTATCAAACC	0.398000													22	39					0	0	0.002299	0	0
HNF1B	6928	broad.mit.edu	37	17	36061037	36061037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:36061037C>T	ENST00000225893.4	-	7	1846	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	HNF1B_ENST00000560016.1_Missense_Mutation_p.M495I|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Missense_Mutation_p.M469I	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	495					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTGCTGGGCCATGTGGCTGC	0.657000													40	65					0	0	0.001951	0	0
CPED1	79974	broad.mit.edu	37	7	120781060	120781060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:120781060G>A	ENST00000310396.5	+	15	2346	c.1879G>A	c.(1879-1881)Ggg>Agg	p.G627R	CPED1_ENST00000423795.1_Missense_Mutation_p.G407R|CPED1_ENST00000450913.2_Missense_Mutation_p.G627R	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CGAGCAGGCAGGGCCAAGGTA	0.443000													3	3					0	0	0.000248	0	0
OR7G3	390883	broad.mit.edu	37	19	9237093	9237093	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9237093G>A	ENST00000305444.2	-	1	533	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CTAGTTCACAGAAAAAGTGGG	0.473000													46	51					0	0	0.003610	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142603	35142603	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:35142603C>T	ENST00000436258.1	-	0	1811																											TATTATGCTCCATTGATTACG	0.363000													11	19					0	0	0.000978	0	0
NPAP1	23742	broad.mit.edu	37	15	24923350	24923350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24923350G>A	ENST00000329468.2	+	1	2810	c.2336G>A	c.(2335-2337)gGg>gAg	p.G779E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCCCTGATGGGCCGCAGCAG	0.552000													52	233					0	0	0.003610	0	0
C17orf70	80233	broad.mit.edu	37	17	79517434	79517434	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79517434G>A	ENST00000537152.1	-	3	1158	c.633C>T	c.(631-633)acC>acT	p.T211T	C17orf70_ENST00000327787.8_Silent_p.T362T	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	362					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCAGAAGGGGTGCTGTGGT	0.697000													23	42					0	0	0.002299	0	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:168233482G>A	ENST00000519560.1	-	9	1323	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_ENST00000404867.3_Missense_Mutation_p.P302S|SLIT3_ENST00000332966.8_Missense_Mutation_p.P302S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	302	LRRNT 2.				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)			AAGTTGGCAGGAATCTCCATC	0.577000													9	28					0	0	0.000978	0	0
PGK1	5230	broad.mit.edu	37	X	77373639	77373639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77373639G>A	ENST00000373316.4	+	6	780	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PGK1_ENST00000537456.1_Missense_Mutation_p.E177K|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	205					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GGAGAGCCCAGAGCGACCCTT	0.483000													24	53					0	0	0.002299	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249790	3249790	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3249790G>A	ENST00000389832.5	-	2	546	c.240C>T	c.(238-240)atC>atT	p.I80I	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.I79I			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	79						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCGGGGACGATGGCCACCA	0.622000													30	74					0	0	0.007291	0	0
RFX1	5989	broad.mit.edu	37	19	14104454	14104454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:14104454G>A	ENST00000254325.4	-	2	436	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	68					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)			TGGCCACCCGGTggctgtgcc	0.706000													15	20					0	0	0.002450	0	0
ABCG1	9619	broad.mit.edu	37	21	43708164	43708164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43708164G>A	ENST00000398437.1	+	10	1725	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	ABCG1_ENST00000343687.3_Intron|ABCG1_ENST00000361802.2_Missense_Mutation_p.R380Q|ABCG1_ENST00000398457.2_Intron|ABCG1_ENST00000398449.3_Intron|ABCG1_ENST00000347800.2_Intron|ABCG1_ENST00000340588.4_Missense_Mutation_p.R488Q|ABCG1_ENST00000462050.1_Intron			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	380	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CAGACAAAACGATTAAAGGGG	0.557000													38	138					0	0	0.006999	0	0
CLCF1	23529	broad.mit.edu	37	11	67134991	67134991	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67134991C>T	ENST00000312438.7	-	2	320	c.123G>A	c.(121-123)caG>caA	p.Q41Q	CLCF1_ENST00000533438.1_Silent_p.Q31Q|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Silent_p.Q31Q	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	41					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CATAGGTTTTCTGGATGGAGG	0.617000													20	67					0	0	0.002299	0	0
CST3	1471	broad.mit.edu	37	20	23614577	23614577	+	Silent	SNP	C	C	T	rs77000936	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:23614577C>T	ENST00000398411.1	-	3	499	c.417G>A	c.(415-417)tcG>tcA	p.S139S	CST3_ENST00000398409.1_Silent_p.S139S|CST3_ENST00000376925.3_Silent_p.S139S			P01034	CYTC_HUMAN	cystatin C	139					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGGTGGATTTCGACAAGGTCA	0.552000													74	94					0	0	0.003610	0	0
TJP3	27134	broad.mit.edu	37	19	3728613	3728613	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3728613G>A	ENST00000541714.2	+	3	522	c.60G>A	c.(58-60)cgG>cgA	p.R20R	TJP3_ENST00000589378.1_Silent_p.R29R|TJP3_ENST00000587686.1_Silent_p.R39R|TJP3_ENST00000382008.3_Silent_p.R20R|TJP3_ENST00000262968.9_Silent_p.R39R|TJP3_ENST00000539908.2_5'UTR	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	20	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCCGCCGGGGCTTTGGCA	0.627000													26	48					0	0	0.004656	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786548	22786548	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:22786548C>T	ENST00000390301.2	+	0	138																											TCTGAAGCCCCCAGGCAGAGG	0.547000											OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	43					0	0	0.004007	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937231	102937231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102937231G>A	ENST00000260247.5	-	5	749	c.407C>T	c.(406-408)tCg>tTg	p.S136L	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.S51L	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	136	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTTAAATGACGAAATATCATT	0.303000													22	17					0	0	0.002780	0	0
INPP4B	8821	broad.mit.edu	37	4	143129678	143129678	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:143129678G>A	ENST00000513000.1	-	15	1405	c.972C>T	c.(970-972)tcC>tcT	p.S324S	INPP4B_ENST00000308502.4_Silent_p.S324S|INPP4B_ENST00000509777.1_Silent_p.S324S|INPP4B_ENST00000262992.4_Silent_p.S324S|INPP4B_ENST00000508116.1_Silent_p.S324S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	324					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTTGAAAGAGGACCCTGATG	0.303000													6	6					0	0	0.001984	0	0
OR4F15	390649	broad.mit.edu	37	15	102358667	102358667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:102358667C>T	ENST00000332238.4	+	1	302	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AAGGCCATCTCCTTTCGGGGA	0.443000													17	21					0	0	0.004990	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964527	88964527	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:88964527A>T	ENST00000333190.4	+	4	2840	c.2231A>T	c.(2230-2232)aAa>aTa	p.K744I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	744						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCTTCCATAAAAGAGAACAC	0.408000										HNSCC(36;0.09)			7	28					0	0	0.001984	0	0
KCNH1	3756	broad.mit.edu	37	1	211093146	211093146	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:211093146T>A	ENST00000367007.4	-	7	1386	c.1217A>T	c.(1216-1218)aAt>aTt	p.N406I	KCNH1_ENST00000271751.4_Missense_Mutation_p.N433I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	433					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCCAGACCCATTAAACTGGTA	0.502000													7	23					0	0	0.000673	0	0
COTL1	23406	broad.mit.edu	37	16	84623783	84623783	+	Silent	SNP	G	G	A	rs141354958		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84623783G>A	ENST00000262428.4	-	3	408	c.246C>T	c.(244-246)atC>atT	p.I82I	COTL1_ENST00000564057.1_Silent_p.I13I	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	82	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CGTTCTCACCGATCCACGTGA	0.592000													20	49					0	0	0.001882	0	0
TBCCD1	55171	broad.mit.edu	37	3	186276299	186276299	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186276299G>A	ENST00000424280.1	-	3	878	c.399C>T	c.(397-399)tcC>tcT	p.S133S	TBCCD1_ENST00000446782.1_Silent_p.S37S|TBCCD1_ENST00000338733.5_Silent_p.S133S	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	133					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ATGTCCTTAGGGAGACCTTGT	0.403000													27	67					0	0	0.007291	0	0
PCDHA1	56147	broad.mit.edu	37	5	140165977	140165977	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140165977G>A	ENST00000504120.2	+	1	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	PCDHA1_ENST00000378133.3_Silent_p.S34S|PCDHA1_ENST00000394633.3_Silent_p.S34S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCGATCCCGGAGG	0.657000													37	81					0	0	0.003755	0	0
LDHC	3948	broad.mit.edu	37	11	18451302	18451302	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18451302A>G	ENST00000541669.1	+	4	374	c.263A>G	c.(262-264)aAc>aGc	p.N88S	LDHC_ENST00000280704.4_Missense_Mutation_p.N88S|LDHC_ENST00000544105.1_Missense_Mutation_p.N88S|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Missense_Mutation_p.N88S|LDHC_ENST00000535809.1_Missense_Mutation_p.N88S|LDHC_ENST00000536880.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	88					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GTATCTGCAAACTCCAGAATA	0.388000													28	12					0	0	0.002096	0	0
PITPNM2	57605	broad.mit.edu	37	12	123471897	123471897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:123471897G>A	ENST00000280562.5	-	22	3531	c.3326C>T	c.(3325-3327)tCc>tTc	p.S1109F	PITPNM2_ENST00000542749.1_Missense_Mutation_p.S1115F|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S836F|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S1115F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCGGCAAAGGAACCGTCGAT	0.662000													19	45					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9077424	9077424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9077424C>T	ENST00000397910.4	-	3	10225	c.10022G>A	c.(10021-10023)gGa>gAa	p.G3341E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3342	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCCATTCCAGTTGTCTT	0.502000													19	27					0	0	0.007413	0	0
ALOX12	239	broad.mit.edu	37	17	6913638	6913638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:6913638G>A	ENST00000251535.6	+	14	1941	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	630	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATTCCGAACAGATTTGGAAAA	0.473000													27	61					0	0	0.005443	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868025	31868025	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31868025C>A	ENST00000375527.2	-	2	1233	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GTGCTGCGCCCGCATGTGGAA	0.567000													9	306					0.00448238	0.0089169	0.004482	1	0
TG	7038	broad.mit.edu	37	8	134042153	134042153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:134042153G>A	ENST00000220616.4	+	41	7164	c.7124G>A	c.(7123-7125)gGg>gAg	p.G2375E	TG_ENST00000519543.1_Missense_Mutation_p.G508E|TG_ENST00000377869.1_Missense_Mutation_p.G2318E|TG_ENST00000542445.1_Missense_Mutation_p.G745E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2375			G -> R (in TDH3).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGATTTGGCGGGGACCCTCGG	0.657000													17	48					0	0	0.007413	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553139	44553139	+	Silent	SNP	A	A	C	rs114488279	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44553139A>C	ENST00000289547.4	-	20	4042	c.3987T>G	c.(3985-3987)gcT>gcG	p.A1329A	NPC1L1_ENST00000546276.1_Silent_p.A1256A|NPC1L1_ENST00000381160.3_Silent_p.A1302A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1329					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGATGTTGTCAGCTGTGGAGA	0.562000													40	154					0	0	0.002522	0	0
PELI1	57162	broad.mit.edu	37	2	64322368	64322368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:64322368G>A	ENST00000358912.4	-	7	1167	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	242					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						GTCAATTAACGAGCCATCTTG	0.403000													8	31					0	0	0.001368	0	0
KIF26A	26153	broad.mit.edu	37	14	104640049	104640049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104640049G>A	ENST00000315264.7	+	9	1835	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	KIF26A_ENST00000423312.2_Missense_Mutation_p.G625E			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	625	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCAGTGTCCGGAGGCCGCAGC	0.687000													10	32					0	0	0.000673	0	0
BCMO1	53630	broad.mit.edu	37	16	81303980	81303980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:81303980C>T	ENST00000258168.2	+	7	1521	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	BCMO1_ENST00000425577.2_Missense_Mutation_p.P285S	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	354					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CACCTCGGTCCCCACCCTCAG	0.562000													20	51					0	0	0.002299	0	0
DAW1	164781	broad.mit.edu	37	2	228783568	228783568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228783568C>T	ENST00000309931.2	+	11	1129	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	DAW1_ENST00000545118.1_Missense_Mutation_p.S334L|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		GGTGAAATTTCAAAGGTGAGT	0.418000													6	20					0	0	0.004482	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958302	57958302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57958302C>T	ENST00000311591.3	+	1	397	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGACTGCTACCTTCTGGCCAT	0.592000													31	53					0	0	0.002096	0	0
RNASET2	8635	broad.mit.edu	37	6	167352427	167352427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:167352427G>A	ENST00000507747.1	-	6	343	c.344C>T	c.(343-345)aCt>aTt	p.T115I	RNASET2_ENST00000476238.2_Silent_p.Y134Y|RNASET2_ENST00000508775.1_Silent_p.Y134Y|RNASET2_ENST00000366855.6_Silent_p.Y96Y|RNASET2_ENST00000496851.2_5'UTR																							TTCTGCCAAAGTACTTCTTCT	0.572000													59	13					0	0	0.003610	0	0
PFKFB1	5207	broad.mit.edu	37	X	55020374	55020374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:55020374C>T	ENST00000375006.3	-	1	137	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	PFKFB1_ENST00000374992.2_Missense_Mutation_p.G23S|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	23	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CTGCTGCTGCCGCTGCTGTGT	0.552000													12	5					0	0	0.003163	0	0
VNN1	8876	broad.mit.edu	37	6	133035073	133035073	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:133035073C>T	ENST00000367928.4	-	1	115	c.102G>A	c.(100-102)gcG>gcA	p.A34A		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	34	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGGGCAATATCGCTGCATGCT	0.483000													23	2					0	0	0.002780	0	0
OR2B11	127623	broad.mit.edu	37	1	247615197	247615197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247615197G>A	ENST00000318749.6	-	1	111	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACAAAGAGAGGGAGTTCCAGC	0.552000													29	118					0	0	0.002096	0	0
YWHAQ	10971	broad.mit.edu	37	2	9728293	9728293	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:9728293C>T	ENST00000381844.4	-	3	746		c.e3+1		YWHAQ_ENST00000474715.1_Splice_Site|YWHAQ_ENST00000238081.3_Splice_Site			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide						negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ACACATCTTACCGTTTTAGCC	0.408000													11	7					0	0	0.003163	0	0
NLRP1	22861	broad.mit.edu	37	17	5425006	5425006	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:5425006C>T	ENST00000345221.3	-	13	4175	c.3621G>A	c.(3619-3621)ctG>ctA	p.L1207L	NLRP1_ENST00000354411.3_Silent_p.L1177L|NLRP1_ENST00000269280.4_Silent_p.L1207L|NLRP1_ENST00000577119.1_Silent_p.L1177L|NLRP1_ENST00000572272.1_Silent_p.L1207L|NLRP1_ENST00000262467.5_Silent_p.L1211L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1207					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGGTTTTCCAGAACTATGT	0.557000													34	25					0	0	0.006999	0	0
GPLD1	2822	broad.mit.edu	37	6	24448399	24448399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:24448399C>T	ENST00000230036.1	-	16	1594	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	495						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGAAGACATTCCTCCTTGTTT	0.458000													24	56					0	0	0.001512	0	0
TRPM7	54822	broad.mit.edu	37	15	50866873	50866873	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:50866873A>T	ENST00000313478.7	-	35	5344	c.5063T>A	c.(5062-5064)tTt>tAt	p.F1688Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.F1687Y|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1688	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CATTTGATTAAAGGCAAACGT	0.333000													84	108					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179616008	179616008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179616008C>T	ENST00000360870.5	-	46	11341	c.11119G>A	c.(11119-11121)Gag>Aag	p.E3707K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9553	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTAGCCTCCCTTAAACGT	0.343000													6	0					0	0	0.001168	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604067	140604067	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140604067A>T	ENST00000239449.4	+	1	990	c.990A>T	c.(988-990)aaA>aaT	p.K330N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K177N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		330	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCAGGAAAATGCACCCTTC	0.413000													51	102					0	0	0.003610	0	0
GYG2	8908	broad.mit.edu	37	X	2795273	2795273	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:2795273C>T	ENST00000381163.3	+	11	1551	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Intron|GYG2_ENST00000398806.3_Silent_p.S392S|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	423					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGTCTCATCCGAGGAAACCT	0.512000													14	50					0	0	0.004990	0	0
FCGBP	8857	broad.mit.edu	37	19	40424273	40424273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40424273C>T	ENST00000221347.6	-	4	1937	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	644	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TAGTCCCCATCATCCAGCTTC	0.602000													96	214					0	0	0.003610	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145477815	145477815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:145477815G>A	ENST00000311450.4	-	2	217	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	54										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCTCCCCGAACAGGCTGC	0.512000													27	31					0	0	0.001786	0	0
SCAF1	58506	broad.mit.edu	37	19	50150029	50150029	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50150029C>T	ENST00000360565.3	+	6	544	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	140					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGATCCCATCCCTCTGCCTG	0.662000													22	9					0	0	0.005443	0	0
FSD2	123722	broad.mit.edu	37	15	83437733	83437733	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:83437733C>T	ENST00000334574.8	-	9	1633	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	FSD2_ENST00000541889.1_Silent_p.E439E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	484	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCAGCACAGCCTCTTCACAGC	0.498000													6	7					0	0	0.001984	0	0
UNC79	57578	broad.mit.edu	37	14	93954030	93954030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:93954030G>A	ENST00000553484.1	+	5	795	c.641G>A	c.(640-642)gGt>gAt	p.G214D	UNC79_ENST00000256339.4_Missense_Mutation_p.G37D|UNC79_ENST00000555664.1_Missense_Mutation_p.G214D|UNC79_ENST00000393151.2_Missense_Mutation_p.G214D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	214						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						AGGAGAGAAGGTGTACCTGCC	0.408000													55	57					0	0	0.003610	0	0
MFF	56947	broad.mit.edu	37	2	228197204	228197204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228197204C>T	ENST00000353339.3	+	5	770	c.329C>T	c.(328-330)cCc>cTc	p.P110L	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Missense_Mutation_p.P84L|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Missense_Mutation_p.P84L|MFF_ENST00000354503.6_Missense_Mutation_p.P84L|MFF_ENST00000392059.1_Missense_Mutation_p.P110L|MFF_ENST00000337110.7_Missense_Mutation_p.P84L|MFF_ENST00000349901.7_Missense_Mutation_p.P84L|MFF_ENST00000409565.1_Missense_Mutation_p.P84L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCCTTTAAACCCCTGGCACTG	0.398000													191	342					0	0	0.003610	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199412	71199412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:71199412G>A	ENST00000554752.2	-	11	2673	c.2674C>T	c.(2674-2676)Cct>Tct	p.P892S	MAP3K9_ENST00000554146.1_Missense_Mutation_p.P620S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P869S|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P625S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P906S			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	892	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GATTGGTTAGGATCTCGTTTG	0.602000													57	219					0	0	0.003610	0	0
CCNB3	85417	broad.mit.edu	37	X	50094290	50094290	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:50094290C>T	ENST00000376042.1	+	12	4309	c.4011C>T	c.(4009-4011)ccC>ccT	p.P1337P	CCNB3_ENST00000276014.7_Silent_p.P1337P|CCNB3_ENST00000348603.2_Silent_p.P233P|CCNB3_ENST00000376038.1_Silent_p.P233P			Q8WWL7	CCNB3_HUMAN	cyclin B3	1337					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGCTTCACCCCTTGGTCAGAC	0.458000													29	48					0	0	0.007291	0	0
WDR24	84219	broad.mit.edu	37	16	737365	737365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:737365C>T	ENST00000293883.4	-	3	1470	c.711G>A	c.(709-711)atG>atA	p.M237I	WDR24_ENST00000248142.6_Missense_Mutation_p.M367I	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	323										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GGTGCGTGGTCATGTCCCAGA	0.637000													33	31					0	0	0.003271	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444585	138444585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138444585G>A	ENST00000310018.2	-	8	833	c.551C>T	c.(550-552)tCc>tTc	p.S184F	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.S184F|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.S184F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	184					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCGCTCAAAGGAAGCCATCCT	0.547000													12	45					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3046464	3046464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:3046464C>T	ENST00000602557.1	-	36	6026	c.5471G>A	c.(5470-5472)gGa>gAa	p.G1824E	CSMD1_ENST00000539096.1_Missense_Mutation_p.G1823E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1824E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1823E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1823E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1824E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1824E|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1824	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAGTTGTTTCCGTATGGCTC	0.478000													11	16					0	0	0.001855	0	0
SMYD4	114826	broad.mit.edu	37	17	1703600	1703600	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:1703600A>C	ENST00000305513.7	-	5	1255	c.1088T>G	c.(1087-1089)gTt>gGt	p.V363G		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	363							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GATTTTGCGAACATCCTCAAA	0.448000													14	58					0	0	0.001855	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52947567	52947567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:52947567C>T	ENST00000371544.3	-	10	1806	c.1544G>A	c.(1543-1545)gGt>gAt	p.G515D	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.G515D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	515					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGGATTCCACCATCAGTTTG	0.368000													24	1					0	0	0.004656	0	0
RNF152	220441	broad.mit.edu	37	18	59483682	59483682	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:59483682G>A	ENST00000312828.3	-	2	1114	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	5					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GAGAGTCCTGGGACAGCGTCT	0.592000													39	129					0	0	0.002522	0	0
COL11A1	1301	broad.mit.edu	37	1	103354172	103354172	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:103354172C>T	ENST00000358392.2	-	62	4922	c.4605G>A	c.(4603-4605)caG>caA	p.Q1535Q	COL11A1_ENST00000353414.4_Silent_p.Q1484Q|COL11A1_ENST00000512756.1_Silent_p.Q1407Q|COL11A1_ENST00000370096.3_Silent_p.Q1523Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1523	Triple-helical region.		S -> P (in dbSNP:rs1676486).		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)		TGTCACCTTTCTGGCCAGCGG	0.418000													4	10					0	0	0.000602	0	0
RTN1	6252	broad.mit.edu	37	14	60194362	60194362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60194362C>T	ENST00000267484.5	-	3	1375	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	347					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTGCCTTTCCCCTGGGATTC	0.577000													19	27					0	0	0.002780	0	0
NUP160	23279	broad.mit.edu	37	11	47804706	47804706	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:47804706G>A	ENST00000378460.2	-	34	4081	c.4035C>T	c.(4033-4035)gaC>gaT	p.D1345D	NUP160_ENST00000530326.1_Intron	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1345					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CTTCTAAAAGGTCATAGTTTA	0.378000													112	48					0	0	0.003610	0	0
KRT71	112802	broad.mit.edu	37	12	52943959	52943959	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52943959C>T	ENST00000267119.5	-	2	579	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	170	Linker 1.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TGCAGTTGTTCAGGTCCAGCT	0.597000													34	91					0	0	0.006230	0	0
DDX28	55794	broad.mit.edu	37	16	68056962	68056962	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:68056962C>T	ENST00000332395.5	-	1	808	c.144G>A	c.(142-144)caG>caA	p.Q48Q	DUS2L_ENST00000565263.1_5'UTR	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	48						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGCTCTGCCGCTGTTCCAACT	0.731000													5	19					0	0	0.001168	0	0
RAB37	326624	broad.mit.edu	37	17	72739288	72739288	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72739288G>A	ENST00000340415.3	+	4	1255	c.246G>A	c.(244-246)caG>caA	p.Q82Q	RAB37_ENST00000528438.1_Silent_p.Q62Q|RAB37_ENST00000392612.3_Silent_p.Q52Q|RAB37_ENST00000392614.4_Silent_p.Q94Q|RAB37_ENST00000392610.1_Silent_p.Q89Q|RAB37_ENST00000402449.4_Silent_p.Q82Q|RAB37_ENST00000392615.5_Silent_p.Q57Q|RAB37_ENST00000392613.5_Silent_p.Q89Q	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	89					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCGCTGGGCAGGAACGGTTCC	0.592000													43	88					0	0	0.003610	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512845	101512845	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:101512845C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							CATGTCGAATCGTACAGGGTC	0.488000													32	96					0	0	0.002445	0	0
IFT172	26160	broad.mit.edu	37	2	27667966	27667966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27667966G>A	ENST00000260570.3	-	47	5178	c.5075C>T	c.(5074-5076)cCc>cTc	p.P1692L	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1692					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCAGAATGGGGTATCCTGT	0.468000													26	68					0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	3253830	3253830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:3253830C>T	ENST00000602557.1	-	18	3037	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	CSMD1_ENST00000539096.1_Missense_Mutation_p.E827K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E828K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E827K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E827K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E828K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E828K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	828	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTGGTACTCGCCGATCAGT	0.537000													5	1					0	0	0.001984	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821573	162821573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:162821573G>A	ENST00000375514.5	+	23	3279	c.2992G>A	c.(2992-2994)Gta>Ata	p.V998I	SLC4A10_ENST00000446997.1_Missense_Mutation_p.V1017I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V987I|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V1017I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V987I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1017					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTAGCCCTGGTATTTGTAAG	0.373000													14	21					0	0	0.002450	0	0
CEP112	201134	broad.mit.edu	37	17	64024479	64024479	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64024479T>G	ENST00000392769.2	-	15	1766	c.1548A>C	c.(1546-1548)ttA>ttC	p.L516F	CEP112_ENST00000537949.1_Missense_Mutation_p.L474F|CEP112_ENST00000541355.1_Missense_Mutation_p.L151F|CEP112_ENST00000535342.2_Missense_Mutation_p.L516F	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	516						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						ACTGCTGTTTTAATTGACAGA	0.323000													13	23					0	0	0.004990	0	0
PI4KB	5298	broad.mit.edu	37	1	151276087	151276087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:151276087G>A	ENST00000368875.2	-	7	2066	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	PI4KB_ENST00000271657.5_Nonsense_Mutation_p.Q496*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.Q469*|PI4KB_ENST00000368873.1_Nonsense_Mutation_p.Q484*|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.Q469*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.Q152*	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	484					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGAGAACTGGGAGATGTTG	0.542000													53	188					0	0	0.003610	0	0
GALNT7	51809	broad.mit.edu	37	4	174216643	174216643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:174216643G>A	ENST00000265000.4	+	4	934	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	GALNT7_ENST00000512285.1_Missense_Mutation_p.R284Q|GALNT7_ENST00000502407.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	284	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ATTCAAGCACGAAGTATTGGT	0.353000													33	28					0	0	0.002096	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654619	49654619	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:49654619A>G	ENST00000249601.4	-	10	2208	c.1912T>C	c.(1912-1914)Tta>Cta	p.L638L	ARHGAP22_ENST00000374170.1_Silent_p.L479L|ARHGAP22_ENST00000417247.2_Silent_p.L548L|ARHGAP22_ENST00000417912.2_Silent_p.L654L|ARHGAP22_ENST00000374172.1_Silent_p.L529L|ARHGAP22_ENST00000435790.2_Silent_p.L644L|ARHGAP22_ENST00000477708.2_Silent_p.L471L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	638					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						TCTTCTTCTAACCGGGACATT	0.502000													8	21					0	0	0.003080	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386087	50386087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50386087C>T	ENST00000221543.5	+	8	1164	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	TBC1D17_ENST00000535102.2_Missense_Mutation_p.H256Y	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	289						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTGGGCACGCCACGTGGGCCC	0.662000													23	28					0	0	0.002299	0	0
ARPP21	10777	broad.mit.edu	37	3	35833904	35833904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:35833904G>A	ENST00000187397.4	+	19	2519	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.G669E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G669E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G689E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G689E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	688	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGTCAACAGGGATTCCAAGGC	0.468000													23	43					0	0	0.002780	0	0
PDE1A	5136	broad.mit.edu	37	2	183088673	183088673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:183088673C>T	ENST00000435564.1	-	7	942	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PDE1A_ENST00000331935.6_Missense_Mutation_p.E248K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E248K|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.E248K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E144K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E232K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E232K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E214K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E248K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	248	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCTAAAATTTCCAGTTCAGTG	0.363000													10	11					0	0	0.000978	0	0
WTIP	126374	broad.mit.edu	37	19	34985526	34985526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:34985526C>T	ENST00000590071.2	+	6	1404	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	WTIP_ENST00000270288.6_Missense_Mutation_p.P580L	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGTGCCCGTCCTATCCTCCCT	0.572000													11	23					0	0	0.003163	0	0
MSLN	10232	broad.mit.edu	37	16	812709	812709	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:812709T>C	ENST00000566549.1	+	2	446	c.29T>C	c.(28-30)tTg>tCg	p.L10S	MSLN_ENST00000545450.2_Missense_Mutation_p.L10S|MSLN_ENST00000563941.1_Missense_Mutation_p.L10S|MSLN_ENST00000382862.3_Missense_Mutation_p.L10S			Q13421	MSLN_HUMAN	mesothelin	10				PTARPLLG -> QRLDPCW (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CGACCCCTGTTGGGGTCCTGT	0.682000													56	89					0	0	0.003610	0	0
TH	7054	broad.mit.edu	37	11	2186914	2186914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2186914G>A	ENST00000381178.1	-	12	1295	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	TH_ENST00000352909.3_Missense_Mutation_p.S395F|TH_ENST00000381175.1_Missense_Mutation_p.S422F|TH_ENST00000333684.5_Missense_Mutation_p.S305F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	426					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCCCGTAGGAGGACAGCAG	0.672000													5	33					0	0	0.001168	0	0
KEL	3792	broad.mit.edu	37	7	142641470	142641470	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142641470C>T	ENST00000355265.2	-	13	1905	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	477					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCCCATCTCCACCTGCAGTT	0.547000													27	109					0	0	0.001512	0	0
LY86	9450	broad.mit.edu	37	6	6626578	6626578	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:6626578A>G	ENST00000379953.2	+	4	628	c.276A>G	c.(274-276)tcA>tcG	p.S92S	LY86_ENST00000230568.4_Silent_p.S92S			O95711	LY86_HUMAN	lymphocyte antigen 86	92					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTCAAGGCTCATCTGTTTTGA	0.458000													14	24					0	0	0.003163	0	0
KCNB1	3745	broad.mit.edu	37	20	48098870	48098870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:48098870C>T	ENST00000371741.4	-	1	314	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	50					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCAGGCGGTCCAGGGTACGC	0.692000													8	29					0	0	0.000978	0	0
PHF2	5253	broad.mit.edu	37	9	96407999	96407999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:96407999C>T	ENST00000359246.4	+	4	755	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	130					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CATCCTCGTCCCTAAGAAAGA	0.617000													32	27					0	0	0.002445	0	0
LOC284009	284009	broad.mit.edu	37	17	2310391	2310391	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2310391C>T	ENST00000571332.1	-	0	1108					NR_028335.1																						CCTCTGAGCTCTTCTGAGAAA	0.547000													29	22					0	0	0.001786	0	0
SHC4	399694	broad.mit.edu	37	15	49160067	49160067	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:49160067C>T	ENST00000332408.4	-	6	1323		c.e6-1		SHC4_ENST00000537958.1_Splice_Site|SHC4_ENST00000396535.3_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CTGTAGTATCCTATAAAAAAG	0.338000													30	120					0	0	0.002836	0	0
SERPINE3	647174	broad.mit.edu	37	13	51935965	51935965	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:51935965G>A	ENST00000524365.1	+	10	1732	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	SERPINE3_ENST00000400389.4_Silent_p.R369R|SERPINE3_ENST00000521255.1_Silent_p.R369R|RP11-24B19.4_ENST00000602881.1_RNA			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	369		Reactive bond (Potential).			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TATTGAAAAGGTCTCGGATTC	0.318000													4	8					0	0	0.000248	0	0
RMDN2	151393	broad.mit.edu	37	2	38178723	38178723	+	Missense_Mutation	SNP	C	C	T	rs142222765		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:38178723C>T	ENST00000407257.1	+	2	512	c.365C>T	c.(364-366)tCc>tTc	p.S122F	RMDN2_ENST00000234195.3_Missense_Mutation_p.S122F|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.S122F					regulator of microtubule dynamics 2																		AGCTTTATTTCCCGCAGAAGA	0.393000													13	29					0	0	0.003163	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373194	129373194	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:129373194C>T	ENST00000442111.2	+	3	316	c.228C>T	c.(226-228)atC>atT	p.I76I	GLT1D1_ENST00000537468.1_Silent_p.I65I|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Silent_p.I76I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	76					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)		GCCACCGAATCCCTTTTGGAG	0.448000													9	25					0	0	0.000673	0	0
CUZD1	50624	broad.mit.edu	37	10	124600703	124600703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:124600703G>A	ENST00000368904.1	-	4	1173	c.224C>T	c.(223-225)tCc>tTc	p.S75F	CUZD1_ENST00000545804.1_Missense_Mutation_p.S75F|CUZD1_ENST00000392790.1_Missense_Mutation_p.S75F			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	75	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTGGACATAGGAAAAGATAAT	0.438000													6	4					0	0	0.003080	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243560	47243560	+	Missense_Mutation	SNP	G	G	A	rs147132109		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:47243560G>A	ENST00000300404.2	+	9	1278	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E347K|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E321K	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	407					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCTCTTCAACGAGGAGACCAA	0.493000													14	32					0	0	0.004007	0	0
SSX7	280658	broad.mit.edu	37	X	52682014	52682014	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:52682014T>C	ENST00000298181.5	-	3	248	c.90A>G	c.(88-90)aaA>aaG	p.K30K		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	30	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TAGAGAAGTATTTGGCAATAT	0.398000													20	16					0	0	0.002780	0	0
MUSK	4593	broad.mit.edu	37	9	113445080	113445080	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:113445080A>G	ENST00000416899.2	+	2	332	c.206_splice	c.e2+1	p.K69_splice	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Splice_Site_p.K69_splice|MUSK_ENST00000374448.4_Splice_Site_p.K69_splice			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	69	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATTCTCATTAAGTAAGTATTC	0.328000													15	21					0	0	0.002450	0	0
IPO4	79711	broad.mit.edu	37	14	24656302	24656302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24656302G>A	ENST00000354464.6	-	7	819	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCATCTATGGGGATCAGAGTC	0.552000													183	224					0	0	0.003610	0	0
AGAP1	116987	broad.mit.edu	37	2	237032729	237032729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:237032729G>A	ENST00000409538.1	+	17	3669	c.3173G>A	c.(3172-3174)cGg>cAg	p.R1058Q	AGAP1_ENST00000304032.7_Missense_Mutation_p.R846Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R793Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R685Q			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	846					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACAATAACCGGAACAACAGC	0.647000													23	34					0	0	0.003330	0	0
APPBP2	10513	broad.mit.edu	37	17	58531794	58531794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:58531794G>A	ENST00000083182.3	-	11	1494	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	403					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GCTTCTTGAAGCAGCCTCTGT	0.363000													27	59					0	0	0.007291	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819420	159819420	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:159819420C>T	ENST00000497452.1	-	0	517																											GAACAGACACCTCACAGAGTG	0.488000													53	88					0	0	0.003610	0	0
OR2T8	343172	broad.mit.edu	37	1	248085243	248085243	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248085243C>T	ENST00000319968.4	+	1	924	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGTGTGGCCTTAAGTCGTG	0.408000													19	84					0	0	0.001216	0	0
ACRC	93953	broad.mit.edu	37	X	70823771	70823771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:70823771C>T	ENST00000373695.1	+	7	1181	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ACRC_ENST00000373696.3_Missense_Mutation_p.P215L			Q96QF7	ACRC_HUMAN	acidic repeat containing	215	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCGGATGTTCCCGACGACAAG	0.502000													43	133					0	0	0.003214	0	0
ZNF883	169834	broad.mit.edu	37	9	115760008	115760008	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:115760008C>T	ENST00000427548.1	-	0	1805							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TAGGATTTTTCCTCAGAATGA	0.403000													21	79					0	0	0.001882	0	0
ARPP21	10777	broad.mit.edu	37	3	35833903	35833903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:35833903G>A	ENST00000187397.4	+	19	2518	c.2062G>A	c.(2062-2064)Gga>Aga	p.G688R	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.G669R|ARPP21_ENST00000337271.5_Missense_Mutation_p.G669R|ARPP21_ENST00000417925.1_Missense_Mutation_p.G689R|ARPP21_ENST00000458225.1_Missense_Mutation_p.G689R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	688	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGTCAACAGGGATTCCAAGG	0.468000													23	43					0	0	0.002780	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251426	25251426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:25251426G>A	ENST00000328086.7	-	7	3418	c.2615C>T	c.(2614-2616)tCt>tTt	p.S872F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	872					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCTGAAATGAGAACTGTTGGT	0.448000													13	25					0	0	0.002450	0	0
WDR66	144406	broad.mit.edu	37	12	122396930	122396930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:122396930C>T	ENST00000288912.4	+	13	2917	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	WDR66_ENST00000397454.2_Missense_Mutation_p.P688L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	688							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGCCCAGAGCCTTTCAAATAT	0.433000													61	128					0	0	0.003610	0	0
ZNF264	9422	broad.mit.edu	37	19	57716817	57716817	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57716817G>A	ENST00000263095.6	+	3	627	c.213G>A	c.(211-213)gaG>gaA	p.E71E	ZNF264_ENST00000536056.1_Silent_p.E71E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		ATGGGCAGGAGCCATGGACCA	0.532000													8	21					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	185988821	185988821	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:185988821C>G	ENST00000271588.4	+	35	5848	c.5619C>G	c.(5617-5619)aaC>aaG	p.N1873K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N1873K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1873	Ig-like C2-type 16.				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						CCCAAGGAAACCTTAAAGTAA	0.388000													11	5					0	0	0.001368	0	0
RTN1	6252	broad.mit.edu	37	14	60212976	60212976	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60212976C>T	ENST00000267484.5	-	2	800	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	155					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GAGACTCTATCCCAGGCACAT	0.498000													5	15					0	0	0.000602	0	0
C3orf30	152405	broad.mit.edu	37	3	118866261	118866261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:118866261G>A	ENST00000295622.1	+	1	1265	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.E14K	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	409										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCTTCAGTTGAAATGGAAAC	0.458000													52	26					0	0	0.003610	0	0
KLHL10	317719	broad.mit.edu	37	17	40004384	40004384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40004384C>T	ENST00000293303.4	+	5	1805	c.1652C>T	c.(1651-1653)aCc>aTc	p.T551I		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	551						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GATGAAAAGACCGATGAGTGG	0.463000													22	76					0	0	0.001882	0	0
EPPIN	57119	broad.mit.edu	37	20	44174393	44174393	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:44174393G>A	ENST00000354280.4	-	2	174	c.108C>T	c.(106-108)atC>atT	p.I36I	EPPIN-WFDC6_ENST00000504988.1_Silent_p.I36I|EPPIN_ENST00000555685.1_Silent_p.I36I|EPPIN_ENST00000409554.1_Silent_p.I36I|EPPIN_ENST00000336443.3_Silent_p.I20I	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		ATTCTTCTCTGATTTTGGGAC	0.453000													11	18					0	0	0.000673	0	0
RYR2	6262	broad.mit.edu	37	1	237880620	237880620	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:237880620C>T	ENST00000366574.2	+	72	10763	c.10446C>T	c.(10444-10446)gcC>gcT	p.A3482A	RYR2_ENST00000542537.1_Silent_p.A3466A|RYR2_ENST00000360064.6_Silent_p.A3480A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3482					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)			ACATCTGTGCCCCTGGGGACC	0.502000													5	18					0	0	0.000602	0	0
CARM1	10498	broad.mit.edu	37	19	11031382	11031382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11031382C>T	ENST00000327064.4	+	12	1572	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	CARM1_ENST00000344150.4_Missense_Mutation_p.S461F	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	461					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAGACCGGCTCCAAGTCCAGT	0.642000													16	98					0	0	0.007413	0	0
BCL2L2	599	broad.mit.edu	37	14	23777111	23777111	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23777111C>T	ENST00000250405.5	+	3	364	c.135C>T	c.(133-135)gcC>gcT	p.A45A	BCL2L2-PABPN1_ENST00000557008.1_Silent_p.A45A|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.A45A	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		TGCACCAAGCCATGCGGGCAG	0.622000													41	46					0	0	0.006230	0	0
SOX30	11063	broad.mit.edu	37	5	157065460	157065460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:157065460G>A	ENST00000265007.6	-	4	1999	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	SOX30_ENST00000519442.1_Missense_Mutation_p.A248V|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	553					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGGCATGGGCAGTACTTGC	0.522000													10	41					0	0	0.001855	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900881	117900881	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:117900881T>G	ENST00000371666.3	+	8	1018	c.951T>G	c.(949-951)aaT>aaG	p.N317K		NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	317						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCAAAACAAATAAGTTATGCT	0.318000													40	94					0	0	0.003214	0	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000													50	6					0	0	0.003610	0	0
PTPN4	5775	broad.mit.edu	37	2	120723175	120723175	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120723175C>G	ENST00000263708.2	+	25	3283	c.2512C>G	c.(2512-2514)Cga>Gga	p.R838G	PTPN4_ENST00000544261.1_Missense_Mutation_p.R471G	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	838	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGTCATGTACGAAACAAGAG	0.438000													13	49					0	0	0.004990	0	0
TTC39A	22996	broad.mit.edu	37	1	51754558	51754558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:51754558C>T	ENST00000447632.2	-	17	1719	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	TTC39A_ENST00000530004.1_Missense_Mutation_p.M165I|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000413473.2_Missense_Mutation_p.M525I|TTC39A_ENST00000262675.7_Missense_Mutation_p.M494I|TTC39A_ENST00000371750.5_Missense_Mutation_p.M522I|TTC39A_ENST00000451380.1_Missense_Mutation_p.M521I			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	557							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGTCTTGCTCCATAAGCAGCA	0.493000													8	4					0	0	0.001368	0	0
OR4F15	390649	broad.mit.edu	37	15	102358668	102358668	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:102358668C>T	ENST00000332238.4	+	1	303	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGGCCATCTCCTTTCGGGGAT	0.443000													17	22					0	0	0.004990	0	0
MAGI3	260425	broad.mit.edu	37	1	114184909	114184909	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:114184909C>T	ENST00000369615.1	+	10	1799	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	MAGI3_ENST00000369611.4_Silent_p.I579I|MAGI3_ENST00000307546.9_Silent_p.I579I|MAGI3_ENST00000369617.4_Silent_p.I604I	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	604					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTGACTATCCCTTTGATTA	0.493000													32	3					0	0	0.003271	0	0
SLC15A1	6564	broad.mit.edu	37	13	99374081	99374081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:99374081C>T	ENST00000376503.5	-	6	497	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	148					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AACTGATCTCCACCAAACGCA	0.577000													15	51					0	0	0.001216	0	0
SELO	83642	broad.mit.edu	37	22	50655665	50655665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:50655665C>T	ENST00000380903.2	+	9	1935	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					CTGGAGACCCCTTACCACTGC	0.711000													45	18					0	0	0.003610	0	0
ZBTB47	92999	broad.mit.edu	37	3	42705342	42705342	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:42705342C>T	ENST00000457842.3	+	5	2072	c.663C>T	c.(661-663)atC>atT	p.I221I	ZBTB47_ENST00000505904.1_Silent_p.I143I|ZBTB47_ENST00000232974.6_Silent_p.I597I	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ACATGAGCATCCACATTGGCC	0.562000													12	20					0	0	0.000978	0	0
PIGQ	9091	broad.mit.edu	37	16	628806	628806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:628806C>T	ENST00000321878.5	+	6	1250	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	PIGQ_ENST00000026218.5_Missense_Mutation_p.P364L|PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.P364L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	364	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTCATGTCCCCCTTCGTGGAG	0.657000													15	94					0	0	0.003163	0	0
ADAM12	8038	broad.mit.edu	37	10	127726869	127726869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:127726869G>A	ENST00000368679.4	-	20	2608	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	767					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCCGAGGTGAGCCTGACAG	0.587000													13	3					0	0	0.002450	0	0
POLM	27434	broad.mit.edu	37	7	44120458	44120458	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44120458C>G	ENST00000242248.5	-	2	347	c.246G>C	c.(244-246)tgG>tgC	p.W82C	POLM_ENST00000395831.3_Missense_Mutation_p.W82C|POLM_ENST00000335195.6_Missense_Mutation_p.W82C	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	82	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TGCGCTCCTGCCAGCTGACGG	0.632000								DNA polymerases (catalytic subunits)					45	60					0	0	0.003610	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529221	24529221	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24529221C>T	ENST00000342740.5	+	23	2065	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	637										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGAGCGACATCTCCCAAGCCT	0.657000													39	120					0	0	0.002522	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492506	74492506	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:74492506C>T	ENST00000354431.4	-	8	2057	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	LRRIQ3_ENST00000395089.1_Silent_p.L622L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	622										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATTTTATCAGTCCATTGG	0.289000													5	2					0	0	0.001168	0	0
HUWE1	10075	broad.mit.edu	37	X	53566768	53566768	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53566768C>A	ENST00000342160.3	-	74	11939	c.11482G>T	c.(11482-11484)Gat>Tat	p.D3828Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3828Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3828					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGGTTCCATCGGAGGCTGGA	0.502000													8	2					7.48243e-07	1.50247e-06	0.006214	1	0
PDGFRA	5156	broad.mit.edu	37	4	55133825	55133825	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:55133825G>A	ENST00000257290.5	+	7	1369	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	346	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CACCTCCCAGGATATCCTGGC	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	4					0	0	0.001984	0	0
PIWIL3	440822	broad.mit.edu	37	22	25151811	25151811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25151811G>A	ENST00000332271.5	-	6	1048	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PIWIL3_ENST00000533313.1_Missense_Mutation_p.S102F|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S102F	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	211					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAGTTCTTTGGAAAACTCAAC	0.383000													80	59					0	0	0.003610	0	0
CES5A	221223	broad.mit.edu	37	16	55893498	55893498	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:55893498G>A	ENST00000521992.1	-	9	1249	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	CES5A_ENST00000520435.1_Silent_p.I309I|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.I233I|CES5A_ENST00000319165.9_Silent_p.I339I|CES5A_ENST00000290567.9_Silent_p.I339I	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	339						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.I339I(1)|p.I368I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TATTGACTCCGATGATGGAAG	0.448000													11	9					0	0	0.000978	0	0
LAMC2	3918	broad.mit.edu	37	1	183209264	183209264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:183209264G>A	ENST00000264144.4	+	21	3224	c.3159G>A	c.(3157-3159)atG>atA	p.M1053I	LAMC2_ENST00000493293.1_Missense_Mutation_p.M1053I|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1053	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGTGAGATGAGGGAAGTGG	0.512000													30	47					0	0	0.002096	0	0
KCNF1	3754	broad.mit.edu	37	2	11053986	11053986	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:11053986C>T	ENST00000295082.1	+	1	1924	c.1434C>T	c.(1432-1434)ccC>ccT	p.P478P		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	478						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCTTCATCCCCCTCCTGACCG	0.657000													28	19					0	0	0.002836	0	0
SPCS1	28972	broad.mit.edu	37	3	52741807	52741807	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52741807G>A	ENST00000233025.7	+	4	899	c.489G>A	c.(487-489)aaG>aaA	p.K163K	SPCS1_ENST00000423431.1_Silent_p.K74K|SPCS1_ENST00000602728.1_Silent_p.K96K	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	163					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GAAAAATTAAGAGGCATGCTA	0.423000													46	95					0	0	0.003610	0	0
CGNL1	84952	broad.mit.edu	37	15	57809019	57809019	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:57809019A>G	ENST00000281282.5	+	9	2523	c.2445A>G	c.(2443-2445)caA>caG	p.Q815Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	815						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTTCAGAGCAAGACCAGGCGG	0.532000													11	18					0	0	0.000978	0	0
ECE2	9718	broad.mit.edu	37	3	183995169	183995169	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:183995169G>A	ENST00000402825.3	+	4	747	c.747G>A	c.(745-747)agG>agA	p.R249R	ECE2_ENST00000357474.5_Silent_p.R177R|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.R131R|ECE2_ENST00000359140.4_Silent_p.R102R	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	249	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATTCGGAGGAACCCCCTGC	0.592000													38	25					0	0	0.007835	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													4	46					0	0	0.001984	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764434	109764434	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:109764434G>A	ENST00000602699.1	+	0	895					NR_002718.2																						TTTGAACTGGGATTAGTTGCC	0.502000													7	9					0	0	0.003080	0	0
NUF2	83540	broad.mit.edu	37	1	163317623	163317623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:163317623C>T	ENST00000271452.3	+	12	1298	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	NUF2_ENST00000367900.3_Missense_Mutation_p.S340L|NUF2_ENST00000524800.1_Missense_Mutation_p.S293L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	340	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.S340L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338000													22	75					0	0	0.001882	0	0
CCL8	6355	broad.mit.edu	37	17	32647341	32647341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:32647341C>T	ENST00000394620.1	+	2	596	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	44					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TAGGAAAATTCCTATCCAGAG	0.443000													5	2					0	0	0.001984	0	0
MEFV	4210	broad.mit.edu	37	16	3293268	3293268	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3293268A>C	ENST00000219596.1	-	10	2258	c.2219T>G	c.(2218-2220)aTc>aGc	p.I740S	MEFV_ENST00000339854.4_Missense_Mutation_p.I560S|MEFV_ENST00000536379.1_Missense_Mutation_p.I529S|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	740	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAATGTATAGATGTGGGATCT	0.522000													30	78					0	0	0.003755	0	0
NLRP3	114548	broad.mit.edu	37	1	247588515	247588515	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247588515C>T	ENST00000366497.2	+	4	2550	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	NLRP3_ENST00000391827.2_Silent_p.S590S|NLRP3_ENST00000391828.3_Silent_p.S590S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.S590S|NLRP3_ENST00000348069.2_Silent_p.S590S|NLRP3_ENST00000366496.2_Silent_p.S590S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	590					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAGGACCTCCTACTTGGAGA	0.433000													31	33					0	0	0.001786	0	0
AQP12A	375318	broad.mit.edu	37	2	241631731	241631731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:241631731G>A	ENST00000429564.1	+	2	463	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	AQP12A_ENST00000337801.4_Missense_Mutation_p.A122T			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	122						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTCTGCTGGGCCTGGGAGCT	0.692000													7	32					0	0	0.003080	0	0
PRDM9	56979	broad.mit.edu	37	5	23522914	23522914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:23522914C>T	ENST00000296682.3	+	8	984	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	268	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCTGATCTGCCGCTGGGTCT	0.567000										HNSCC(3;0.000094)			9	7					0	0	0.000673	0	0
EEPD1	80820	broad.mit.edu	37	7	36193980	36193980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:36193980C>T	ENST00000242108.4	+	2	765	c.47C>T	c.(46-48)tCg>tTg	p.S16L	EEPD1_ENST00000534978.1_Missense_Mutation_p.S16L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	16					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGGACCCCTCGGACCTGTCC	0.622000													27	36					0	0	0.003954	0	0
TMC1	117531	broad.mit.edu	37	9	75406915	75406915	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:75406915T>A	ENST00000297784.5	+	16	1878	c.1338T>A	c.(1336-1338)atT>atA	p.I446I	TMC1_ENST00000396237.3_Silent_p.I446I|TMC1_ENST00000340019.3_Silent_p.I446I	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	446					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						TGGGACGCATTTTTGCTCTTC	0.388000													54	33					0	0	0.003610	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668594	180668594	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180668594C>T	ENST00000512805.1	-	3	735	c.327G>A	c.(325-327)ctG>ctA	p.L109L	GNB2L1_ENST00000376817.4_Silent_p.L65L|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Silent_p.L109L|GNB2L1_ENST00000456394.2_Silent_p.L109L	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	109				Missing (in Ref. 4; BAG53102).	apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGGCCACACTCAGCACATCCT	0.507000													29	77					0	0	0.007291	0	0
GPKOW	27238	broad.mit.edu	37	X	48974083	48974083	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48974083G>A	ENST00000156109.5	-	5	726	c.648C>T	c.(646-648)acC>acT	p.T216T		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	216						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCCAGTGGGGGTCAAGGCCT	0.607000													7	26					0	0	0.001984	0	0
C5AR1	728	broad.mit.edu	37	19	47823980	47823980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:47823980C>T	ENST00000355085.3	+	2	968	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	316					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GAAATCCCTCCCCAGCCTCCT	0.597000													76	42					0	0	0.003610	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062305	144062305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:144062305C>T	ENST00000056217.5	+	2	2717	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	848					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					ATAGACCCTCCCACCGAACCA	0.592000													7	81					0	0	0.000673	0	0
ZAN	7455	broad.mit.edu	37	7	100349606	100349606	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100349606C>T	ENST00000542585.1	+	0	2026				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_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)			CAGAAAAACCCACCATCCTCA	0.478000													32	35					0	0	0.004878	0	0
FZR1	51343	broad.mit.edu	37	19	3533377	3533377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3533377C>T	ENST00000441788.2	+	12	1564	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	FZR1_ENST00000313639.8_Missense_Mutation_p.S354F|FZR1_ENST00000395095.3_Missense_Mutation_p.S443F	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	443					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGCACTCCTACCGCGTG	0.632000													19	46					0	0	0.001523	0	0
TCF12	6938	broad.mit.edu	37	15	57356002	57356002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:57356002C>T	ENST00000267811.5	+	4	507	c.203C>T	c.(202-204)cCt>cTt	p.P68L	TCF12_ENST00000438423.2_Missense_Mutation_p.P68L|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.P68L|TCF12_ENST00000557843.1_Missense_Mutation_p.P68L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	68					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAACCAAGTCCTTCCTATGAT	0.333000			T	TEC	extraskeletal myxoid chondrosarcoma								64	244					0	0	0.003610	0	0
GSG2	83903	broad.mit.edu	37	17	3628186	3628186	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3628186C>T	ENST00000325418.4	+	1	976	c.957C>T	c.(955-957)ccC>ccT	p.P319P	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	319					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CCAGTGTTCCCAAGGGCCGCA	0.567000													39	28					0	0	0.005524	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858151	18858151	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18858151G>A	ENST00000266505.7	-	7	1076	c.813C>T	c.(811-813)tcC>tcT	p.S271S	PLCZ1_ENST00000447925.2_Silent_p.S269S|PLCZ1_ENST00000435379.1_Silent_p.S76S|PLCZ1_ENST00000541695.1_Silent_p.S134S|PLCZ1_ENST00000539875.1_Silent_p.S78S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Silent_p.S12S			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	271	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAAAGCAAGGACTCTCCAA	0.403000													21	52					0	0	0.001216	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:95013640C>T	ENST00000357742.4	+	20	2439	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_ENST00000451018.3_Silent_p.F758F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000													15	30					0	0	0.004990	0	0
CRELD1	78987	broad.mit.edu	37	3	9985701	9985701	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:9985701C>T	ENST00000326434.5	+	11	1248	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	CRELD1_ENST00000452070.1_Intron|CRELD1_ENST00000397170.3_Intron|CRELD1_ENST00000489674.1_Intron|CRELD1_ENST00000383811.3_Intron	NM_001031717.3	NP_001026887.1	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	0					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						aagctactttcccagggctat	0.473000													30	91					0	0	0.006320	0	0
ICA1L	130026	broad.mit.edu	37	2	203644281	203644281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:203644281G>A	ENST00000392237.2	-	14	1581	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ICA1L_ENST00000358299.2_Missense_Mutation_p.S475L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	475										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCATCATCTGAGTGTCCAAT	0.408000													230	442					0	0	0.003610	0	0
FBP1	2203	broad.mit.edu	37	9	97382635	97382635	+	Silent	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:97382635G>T	ENST00000415431.1	-	3	538	c.309C>A	c.(307-309)gcC>gcA	p.A103A	FBP1_ENST00000375326.4_Silent_p.A103A	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	103					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCACTATGATGGCGTGTTTAT	0.458000													5	91					0.00116845	0.00233487	0.001168	1	0
MIOS	54468	broad.mit.edu	37	7	7612814	7612814	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:7612814C>T	ENST00000340080.4	+	4	1129	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MIOS_ENST00000405785.1_Silent_p.F236F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	236										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCCATATTTCCACGATCGTG	0.408000													51	79					0	0	0.003610	0	0
SGSM1	129049	broad.mit.edu	37	22	25294011	25294011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25294011C>T	ENST00000400358.4	+	19	2152	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	SGSM1_ENST00000400359.4_Missense_Mutation_p.P754S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	754	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCCCAAGATCCCCAATGGGAA	0.547000													6	11					0	0	0.001984	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008319	41008319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:41008319G>A	ENST00000352632.3	+	10	1194	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E370K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E370K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E370K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E370K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	370					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGAACCTAGAGGTGCTGCT	0.612000													63	42					0	0	0.003610	0	0
C7orf62	219557	broad.mit.edu	37	7	88424141	88424141	+	Missense_Mutation	SNP	C	C	T	rs141995683		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:88424141C>T	ENST00000297203.2	-	2	301	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	39										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAGGTGTAGTCGTTGTTTCTC	0.408000													9	11					0	0	0.000673	0	0
DNAH14	127602	broad.mit.edu	37	1	225140421	225140421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:225140421C>T	ENST00000430092.1	+	2	232	c.17C>T	c.(16-18)cCc>cTc	p.P6L	DNAH14_ENST00000400952.3_Missense_Mutation_p.P6L|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000366848.1_Missense_Mutation_p.P6L|DNAH14_ENST00000366850.3_Missense_Mutation_p.P6L|DNAH14_ENST00000439375.2_Missense_Mutation_p.P6L|DNAH14_ENST00000366849.1_Missense_Mutation_p.P6L	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	183					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ACGTTTATACCCATTGATTTG	0.294000													5	14					0	0	0.001984	0	0
RASSF7	8045	broad.mit.edu	37	11	563619	563619	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:563619C>T	ENST00000397583.3	+	6	1529	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	RASSF7_ENST00000397582.3_3'UTR|RASSF7_ENST00000454668.2_3'UTR|RASSF7_ENST00000344375.4_Silent_p.L366L|RASSF7_ENST00000431809.1_3'UTR	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	366					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTGTCCTCTGGCAGCCCA	0.652000													32	12					0	0	0.006999	0	0
OCRL	4952	broad.mit.edu	37	X	128709929	128709929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:128709929G>A	ENST00000371113.4	+	17	1934	c.1769G>A	c.(1768-1770)aGc>aAc	p.S590N	OCRL_ENST00000357121.5_Missense_Mutation_p.S590N	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCAGATCAGCAACAATGGA	0.448000													20	56					0	0	0.001882	0	0
HTR7	3363	broad.mit.edu	37	10	92508974	92508974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:92508974G>A	ENST00000371721.3	-	2	1159	c.917C>T	c.(916-918)tCg>tTg	p.S306L	HTR7_ENST00000336152.3_Missense_Mutation_p.S306L|HTR7_ENST00000277874.6_Missense_Mutation_p.S306L|HTR7_ENST00000371719.2_Missense_Mutation_p.S306L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	306					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAGGAGTCTCGAAAGGTTTGC	0.532000													6	5					0	0	0.001984	0	0
BARX2	8538	broad.mit.edu	37	11	129306768	129306768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:129306768G>A	ENST00000281437.4	+	2	406	c.310G>A	c.(310-312)Gag>Aag	p.E104K	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	104										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCAGGTCACCGAGGCGGTCTC	0.697000													21	45					0	0	0.001523	0	0
ZFHX3	463	broad.mit.edu	37	16	72993646	72993646	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:72993646G>A	ENST00000268489.5	-	2	1071	c.399C>T	c.(397-399)atC>atT	p.I133I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	133					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGACGATCTCCCCGG	0.711000													21	36					0	0	0.004656	0	0
DUSP12	11266	broad.mit.edu	37	1	161722885	161722885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:161722885C>T	ENST00000367943.4	+	5	727	c.695C>T	c.(694-696)tCt>tTt	p.S232F	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	232					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTTCGAAGTTCTAGTATTCTG	0.423000													99	127					0	0	0.003610	0	0
RBM6	10180	broad.mit.edu	37	3	50095359	50095359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50095359G>A	ENST00000443081.1	+	9	2415	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.R109K|RBM6_ENST00000266022.4_Missense_Mutation_p.R631K|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Missense_Mutation_p.R109K			P78332	RBM6_HUMAN	RNA binding motif protein 6	631	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTTCTCGAAGGGAAGGGCCA	0.512000													24	17					0	0	0.003330	0	0
CR1	1378	broad.mit.edu	37	1	207700143	207700143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:207700143G>A	ENST00000367049.4	+	6	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K	CR1_ENST00000367050.4_Intron|CR1_ENST00000367051.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.R311K|CR1_ENST00000367053.1_Missense_Mutation_p.R311K|CR1_ENST00000367052.1_Missense_Mutation_p.R311K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	311	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGTACCCAAAGGGACAAGGAC	0.527000													27	83					0	0	0.002445	0	0
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:26806166G>A	ENST00000541819.2	-	9	1263	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	GABRB3_ENST00000299267.4_Silent_p.F331F|GABRB3_ENST00000400188.3_Silent_p.F260F|GABRB3_ENST00000311550.5_Silent_p.F331F|GABRB3_ENST00000545868.1_Silent_p.F246F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCTTCCAAAGAAAATGTAGT	0.483000													19	62					0	0	0.007413	0	0
DCHS1	8642	broad.mit.edu	37	11	6662651	6662651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6662651C>T	ENST00000299441.3	-	2	605	c.194G>A	c.(193-195)aGt>aAt	p.S65N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	65	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCCCCGCACTGATGTCGCC	0.637000													6	22					0	0	0.001168	0	0
XIST	7503	broad.mit.edu	37	X	73070030	73070030	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73070030G>A	ENST00000429829.1	-	0	2558					NR_001564.2																						CTCTTCAAAGGAAAATAGTTA	0.318000													17	34					0	0	0.004990	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387965	157387965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:157387965C>T	ENST00000389413.3	-	16	2477	c.2374G>A	c.(2374-2376)Gga>Aga	p.G792R	PTPRN2_ENST00000389416.4_Missense_Mutation_p.G804R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G821R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G844R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G783R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	821	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCAGCGGTCCCTGGGTGGCG	0.517000													24	148					0	0	0.005443	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410475	105410475	+	Silent	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:105410475C>G	ENST00000333244.5	-	7	11432	c.11313G>C	c.(11311-11313)gtG>gtC	p.V3771V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3771						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)			CCTGGACGTCCACCTCCACGC	0.592000													141	147					0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756831	94756831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94756831G>A	ENST00000554723.1	-	2	638	c.220C>T	c.(220-222)Cct>Tct	p.P74S	SERPINA10_ENST00000554173.1_Missense_Mutation_p.P34S|SERPINA10_ENST00000261994.4_Missense_Mutation_p.P34S|SERPINA10_ENST00000393096.1_Missense_Mutation_p.P34S			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	34					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGTTCTGAGGGGCTGGGGTC	0.627000													11	17					0	0	0.001368	0	0
DGCR6L	85359	broad.mit.edu	37	22	20302981	20302981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:20302981G>A	ENST00000248879.3	-	4	482	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DGCR6L_ENST00000405465.3_Missense_Mutation_p.R93C	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	131						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					TGCTCCTCACGGATCCGGTGT	0.677000													30	45					0	0	0.003271	0	0
OXER1	165140	broad.mit.edu	37	2	42990815	42990815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:42990815G>A	ENST00000378661.2	-	1	586	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	169					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGCATGAAGAGGTTGACTTTG	0.617000													21	19					0	0	0.001882	0	0
AEBP1	165	broad.mit.edu	37	7	44146364	44146364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44146364C>T	ENST00000223357.3	+	2	778	c.473C>T	c.(472-474)cCc>cTc	p.P158L		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	158	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGAAGCCACCCAAGGCCACC	0.647000													4	22					0	0	0.000248	0	0
APOL6	80830	broad.mit.edu	37	22	36054792	36054792	+	Missense_Mutation	SNP	C	C	T	rs149349834		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:36054792C>T	ENST00000409652.3	+	3	457	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	61					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGACAAGCTCCGTGCCCTCGC	0.468000													7	54					0	0	0.001984	0	0
RFX2	5990	broad.mit.edu	37	19	6001899	6001899	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6001899G>A	ENST00000303657.5	-	15	1935	c.1786C>T	c.(1786-1788)Ctg>Ttg	p.L596L	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.L596L|RFX2_ENST00000592546.1_Silent_p.L571L	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTGCTTCAGGACCTGGGTG	0.617000													39	92					0	0	0.001951	0	0
YLPM1	56252	broad.mit.edu	37	14	75266096	75266096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:75266096C>T	ENST00000325680.7	+	5	4220	c.4096C>T	c.(4096-4098)Cgt>Tgt	p.R1366C	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1171C|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCGAGATTTCCGTGATAGGGG	0.473000													20	105					0	0	0.003330	0	0
SP1	6667	broad.mit.edu	37	12	53776507	53776507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53776507C>T	ENST00000426431.2	+	3	815	c.755C>T	c.(754-756)gCc>gTc	p.A252V	SP1_ENST00000327443.4_Missense_Mutation_p.A259V	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	259					positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTACCAGTGGCCCTGAATGGG	0.547000													49	98					0	0	0.003610	0	0
ACSM1	116285	broad.mit.edu	37	16	20693667	20693667	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20693667G>A	ENST00000307493.4	-	3	589	c.522C>T	c.(520-522)tcC>tcT	p.S174S	ACSM1_ENST00000520010.1_Silent_p.S174S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	174					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGAAGCTATGGAGTCCACCT	0.522000													7	3					0	0	0.003080	0	0
SCUBE2	57758	broad.mit.edu	37	11	9088336	9088336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:9088336C>T	ENST00000457346.2	-	6	742	c.668G>A	c.(667-669)gGg>gAg	p.G223E	SCUBE2_ENST00000520467.1_Missense_Mutation_p.G223E|SCUBE2_ENST00000309263.3_Missense_Mutation_p.G223E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.G223E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	223	EGF-like 5 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTGCTGGCACCCACCGTTCCC	0.512000													5	21					0	0	0.001168	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760976	62760976	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:62760976G>A	ENST00000336232.2	-	10	1584	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	SLC22A8_ENST00000545207.1_Silent_p.L392L|SLC22A8_ENST00000311438.8_Silent_p.L483L|SLC22A8_ENST00000535878.1_Silent_p.L360L|SLC22A8_ENST00000430500.2_Silent_p.L483L	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	483					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGCCCCCGAGGAGGGCGGTGA	0.597000													53	34					0	0	0.003610	0	0
CDC25B	994	broad.mit.edu	37	20	3785567	3785567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:3785567C>T	ENST00000245960.5	+	16	2399	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	CDC25B_ENST00000379598.5_Missense_Mutation_p.R477W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R527W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R554W|CDC25B_ENST00000344256.6_Missense_Mutation_p.R504W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	568					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGCTGGGGAGCGGAGCCGGCG	0.642000													26	114					0	0	0.001512	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406229	80406229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:80406229G>A	ENST00000369838.4	+	3	438	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	87						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TGAATCCAAGGAAAGCAACAC	0.313000													9	17					0	0	0.000978	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824023	176824023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:176824023C>T	ENST00000324417.5	+	12	1455	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	455					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			ACCACCACGGCCATCCTGGCT	0.647000													35	20					0	0	0.002836	0	0
TRPM2	7226	broad.mit.edu	37	21	45786747	45786747	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45786747G>A	ENST00000397928.1	+	4	979	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TRPM2_ENST00000300481.9_Silent_p.K178K|TRPM2_ENST00000300482.5_Silent_p.K178K|TRPM2_ENST00000397932.2_Silent_p.K178K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	178						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGGGCCAAGAACTTCAACA	0.617000													16	69					0	0	0.004007	0	0
EFHC1	114327	broad.mit.edu	37	6	52343840	52343840	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:52343840C>T	ENST00000371068.5	+	8	1387	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	EFHC1_ENST00000433625.2_Silent_p.S337S|EFHC1_ENST00000538167.1_Silent_p.S409S	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	428	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGTAGGAATCCCCCATCCCAG	0.423000													8	10					0	0	0.004482	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899902	151899902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151899902G>A	ENST00000393900.3	-	3	1252	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA12_ENST00000357916.4_Missense_Mutation_p.S300F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.S300F	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	300	MAGE.			S -> P (in Ref. 1; AAA19023).						breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGGTAGGAAATGTGAGG	0.567000													60	166					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215916616	215916616	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:215916616T>A	ENST00000366943.2	-	59	11837	c.11451A>T	c.(11449-11451)acA>acT	p.T3817T	USH2A_ENST00000307340.3_Silent_p.T3817T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3817	Fibronectin type-III 23.				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)		AGGCCAGAGGTGTTACACTTC	0.413000										HNSCC(13;0.011)			54	74					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31320206	31320206	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:31320206C>T	ENST00000269197.5	+	11	2838	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGAGCCCTCCAAGTCACCTG	0.413000													11	22					0	0	0.000673	0	0
MGA	23269	broad.mit.edu	37	15	41988789	41988789	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:41988789A>T	ENST00000219905.7	+	3	1762	c.1581A>T	c.(1579-1581)gaA>gaT	p.E527D	MGA_ENST00000545763.1_Missense_Mutation_p.E527D|MGA_ENST00000570161.1_Missense_Mutation_p.E527D|MGA_ENST00000389936.4_Missense_Mutation_p.E527D|MGA_ENST00000566586.1_Missense_Mutation_p.E527D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	527						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGAATCAGAAAATGGTCTTA	0.373000													28	29					0	0	0.007291	0	0
DCHS2	54798	broad.mit.edu	37	4	155241609	155241609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:155241609C>T	ENST00000357232.3	-	14	3576	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1193	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCTTCCTTCGTCTGGATCG	0.453000													21	17					0	0	0.003330	0	0
KCNT1	57582	broad.mit.edu	37	9	138657536	138657536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138657536C>T	ENST00000298480.5	+	13	1341	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	KCNT1_ENST00000371757.2_Missense_Mutation_p.P423S|KCNT1_ENST00000491806.2_Missense_Mutation_p.P390S|KCNT1_ENST00000263604.3_Missense_Mutation_p.P404S|KCNT1_ENST00000490355.2_Missense_Mutation_p.P404S|KCNT1_ENST00000488444.2_Missense_Mutation_p.P404S|KCNT1_ENST00000487664.1_Missense_Mutation_p.P378S|KCNT1_ENST00000486577.2_Missense_Mutation_p.P384S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	423						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGCAGATCCCTCTGTGGTC	0.632000													13	20					0	0	0.001855	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802602	185802602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:185802602G>A	ENST00000302277.6	+	4	3073	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	827						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACTTTAGAACTCAAAGA	0.388000													13	32					0	0	0.001855	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238539	71238539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:71238539G>A	ENST00000398536.4	+	1	227	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	65	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGCTCCAAGGGAGGCTGTGG	0.657000													81	161					0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9319589	9319589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9319589G>A	ENST00000378501.2	+	4	289	c.274G>A	c.(274-276)Gat>Aat	p.D92N	PLCB4_ENST00000278655.4_Missense_Mutation_p.D92N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D92N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D92N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D92N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D92N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	92					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATCAGAAAATGATCTGGAAGG	0.403000													8	4					0	0	0.003080	0	0
MTG2	26164	broad.mit.edu	37	20	60775749	60775749	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:60775749C>T	ENST00000370823.3	+	7	855	c.837C>T	c.(835-837)atC>atT	p.I279I	MTG2_ENST00000536470.1_Silent_p.I51I|MTG2_ENST00000436421.2_Silent_p.I121I	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TGGCCGACATCCCCGGCATCA	0.632000													37	128					0	0	0.004289	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399102	90399102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:90399102C>T	ENST00000337338.5	+	3	882	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	LRRC8D_ENST00000394593.3_Missense_Mutation_p.P159S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	159						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCTGGCCCTTCCGTGGTATTC	0.358000													6	16					0	0	0.001984	0	0
NDST4	64579	broad.mit.edu	37	4	115754765	115754765	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:115754765A>G	ENST00000264363.2	-	12	3071	c.2393T>C	c.(2392-2394)cTa>cCa	p.L798P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	798	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACTCACGTTAGTGCTTCAGA	0.373000													16	27					0	0	0.004990	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406744	138406744	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138406744A>G	ENST00000310018.2	-	19	2319	c.2037T>C	c.(2035-2037)gaT>gaC	p.D679D	ATP6V0A4_ENST00000393054.1_Silent_p.D679D|ATP6V0A4_ENST00000353492.4_Silent_p.D679D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	679					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTCAGTGGCATCTTCTTGGA	0.488000													30	51					0	0	0.003755	0	0
ARPP21	10777	broad.mit.edu	37	3	35750560	35750560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:35750560G>A	ENST00000187397.4	+	11	1351	c.895G>A	c.(895-897)Gat>Aat	p.D299N	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	299						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATTTGCACACGATGTGAGTAG	0.438000													4	6					0	0	0.000248	0	0
MGAT1	4245	broad.mit.edu	37	5	180219450	180219450	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180219450C>T	ENST00000446023.2	-	3	1272	c.522G>A	c.(520-522)ccG>ccA	p.P174P	MGAT1_ENST00000333055.3_Silent_p.P174P|MGAT1_ENST00000307826.4_Silent_p.P174P|MGAT1_ENST00000427865.2_Silent_p.P174P|MGAT1_ENST00000393340.3_Silent_p.P174P	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	174					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCGGTGGTCCGGCGGCACCG	0.701000													38	95					0	0	0.002522	0	0
ADAM2	2515	broad.mit.edu	37	8	39634655	39634655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:39634655G>A	ENST00000265708.4	-	11	1020	c.917C>T	c.(916-918)tCa>tTa	p.S306L	ADAM2_ENST00000347580.4_Missense_Mutation_p.S287L|ADAM2_ENST00000379853.2_Missense_Mutation_p.S180L|ADAM2_ENST00000521880.1_Missense_Mutation_p.S306L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	306	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AACTGCAAGTGATTCCAGACT	0.363000													7	13					0	0	0.003080	0	0
SCAF1	58506	broad.mit.edu	37	19	50154631	50154631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50154631C>T	ENST00000360565.3	+	7	1109	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	329					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCCACACAGCCGACTCCCGC	0.706000													16	35					0	0	0.004990	0	0
TAF5L	27097	broad.mit.edu	37	1	229730171	229730171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:229730171G>A	ENST00000258281.2	-	5	1808	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	TAF5L_ENST00000366676.1_Missense_Mutation_p.A548V	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	548					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGAGCCGTCGGCAGGTGCACT	0.597000													11	34					0	0	0.000673	0	0
CRX	1406	broad.mit.edu	37	19	48342956	48342956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48342956C>T	ENST00000221996.7	+	4	838	c.632C>T	c.(631-633)cCg>cTg	p.P211L	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P211L	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	211					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P211L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TATGGGTCTCCGAGCTCCTAT	0.677000													34	96					0	0	0.004289	0	0
ATP2A2	488	broad.mit.edu	37	12	110778711	110778711	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:110778711T>G	ENST00000395494.2	+	13	2491	c.1928T>G	c.(1927-1929)cTg>cGg	p.L643R	ATP2A2_ENST00000539276.2_Missense_Mutation_p.L670R|ATP2A2_ENST00000308664.6_Missense_Mutation_p.L670R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	670					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GACGCCTGCCTGAACGCCCGC	0.517000													15	43					0	0	0.003163	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546081	18546081	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:18546081G>A	ENST00000545187.1	-	7	1303	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	ISYNA1_ENST00000457269.3_Silent_p.I435I|ISYNA1_ENST00000578963.1_Silent_p.I361I|ISYNA1_ENST00000338128.7_Silent_p.I489I|ISYNA1_ENST00000317018.6_Silent_p.I287I			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	489					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGCACCTGAGGATGTTCTCGA	0.657000													31	86					0	0	0.002445	0	0
UBE3C	9690	broad.mit.edu	37	7	156974994	156974994	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:156974994C>T	ENST00000348165.5	+	8	1323	c.963C>T	c.(961-963)ttC>ttT	p.F321F	UBE3C_ENST00000389103.4_Silent_p.F278F	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	321					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTCTATTTCGTTTTAACTG	0.418000													35	87					0	0	0.006230	0	0
ENOX1	55068	broad.mit.edu	37	13	43918819	43918819	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:43918819C>T	ENST00000261488.6	-	9	1468	c.891G>A	c.(889-891)cgG>cgA	p.R297R	ENOX1_ENST00000540032.1_Silent_p.R110R|ENOX1_ENST00000412891.1_Silent_p.R297R	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	297					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGCAGAGCGCCGATTCACTT	0.493000													28	50					0	0	0.002096	0	0
DCAF6	55827	broad.mit.edu	37	1	168014418	168014418	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:168014418C>T	ENST00000367840.3	+	16	2305	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	DCAF6_ENST00000367843.3_Silent_p.D680D|DCAF6_ENST00000432587.2_Silent_p.D706D|DCAF6_ENST00000312263.6_Silent_p.D660D	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	660					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GTGATGATGACCCAGTCCTGA	0.453000													16	35					0	0	0.004990	0	0
MARCO	8685	broad.mit.edu	37	2	119750026	119750026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:119750026G>A	ENST00000541757.1	+	16	1372	c.992G>A	c.(991-993)gGa>gAa	p.G331E	MARCO_ENST00000327097.4_Missense_Mutation_p.G409E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	409	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGAGCAAGGAGTAAAGGGA	0.448000													11	20					0	0	0.002450	0	0
IQSEC2	23096	broad.mit.edu	37	X	53265598	53265598	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53265598C>T	ENST00000396435.3	-	13	3557	c.3357G>A	c.(3355-3357)acG>acA	p.T1119T	IQSEC2_ENST00000375365.2_Silent_p.T914T|IQSEC2_ENST00000375368.5_Silent_p.T1109T	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1109					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGCGGGCCATCGTCCCATTCA	0.627000													8	15					0	0	0.006214	0	0
EGFR	1956	broad.mit.edu	37	7	55211105	55211105	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:55211105C>T	ENST00000275493.2	+	3	525	c.348C>T	c.(346-348)tcC>tcT	p.S116S	EGFR_ENST00000344576.2_Silent_p.S116S|EGFR_ENST00000442591.1_Silent_p.S116S|EGFR_ENST00000420316.2_Silent_p.S116S|EGFR_ENST00000455089.1_Silent_p.S116S|EGFR_ENST00000454757.2_Silent_p.S63S|EGFR_ENST00000342916.3_Silent_p.S116S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	116					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACGAAAATTCCTATGCCTTAG	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	117					0	0	0.003954	0	0
CLGN	1047	broad.mit.edu	37	4	141331753	141331753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:141331753C>T	ENST00000325617.5	-	3	612	c.172G>A	c.(172-174)Gga>Aga	p.G58R	CLGN_ENST00000414773.1_Missense_Mutation_p.G58R|CLGN_ENST00000537281.1_Missense_Mutation_p.G58R	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	58					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TATACTTCTCCTATAGGTTGA	0.289000													30	43					0	0	0.002096	0	0
OSBP2	23762	broad.mit.edu	37	22	31266560	31266560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:31266560C>T	ENST00000332585.6	+	3	1102	c.998C>T	c.(997-999)tCc>tTc	p.S333F	OSBP2_ENST00000437268.2_Missense_Mutation_p.S75F|OSBP2_ENST00000446658.2_Missense_Mutation_p.S333F|OSBP2_ENST00000403222.3_Missense_Mutation_p.S168F|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.S333F|OSBP2_ENST00000407373.1_Missense_Mutation_p.S160F	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	333					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTCCAGCGCTCCCTGACAGAG	0.577000													8	33					0	0	0.004482	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000													23	14					0	0	0.006320	0	0
POTEC	388468	broad.mit.edu	37	18	14542941	14542941	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:14542941A>T	ENST00000358970.5	-	1	204	c.205T>A	c.(205-207)Ttc>Atc	p.F69I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	69										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGCAGGGGAAGCAGTGGTGG	0.572000													43	252					0	0	0.003610	0	0
NRP2	8828	broad.mit.edu	37	2	206605371	206605371	+	Silent	SNP	C	C	T	rs142043280	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:206605371C>T	ENST00000360409.3	+	8	2066	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	NRP2_ENST00000540841.1_Silent_p.F425F|NRP2_ENST00000357785.5_Silent_p.F425F|NRP2_ENST00000540178.1_Silent_p.F425F|NRP2_ENST00000357118.4_Silent_p.F425F|NRP2_ENST00000412873.2_Silent_p.F425F|NRP2_ENST00000272849.3_Silent_p.F425F|NRP2_ENST00000355117.4_Silent_p.F425F|NRP2_ENST00000417189.1_Silent_p.F425F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	425	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAGCTCTTCGGCTGCCGGG	0.582000													32	26					0	0	0.006999	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70428923	70428923	+	Silent	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70428923G>C	ENST00000393640.4	-	2	2602	c.495C>G	c.(493-495)ggC>ggG	p.G165G	ST3GAL2_ENST00000342907.2_Silent_p.G165G|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	165					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCTGCCCATAGCCAGAGCCCC	0.677000													28	101					0	0	0.006320	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633378	70633378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70633378C>T	ENST00000381269.2	-	2	2515	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E588K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E588K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E588K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E588K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	588	Calx-beta 2.				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)		TTCTTGAATTCCAACTCCCCA	0.493000													11	11					0	0	0.001855	0	0
IDI2	91734	broad.mit.edu	37	10	1065637	1065637	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:1065637C>T	ENST00000277517.1	-	5	568	c.504G>A	c.(502-504)acG>acA	p.T168T	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	168	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGATGCTTTTCGTTTCACTGG	0.522000													23	28					0	0	0.004656	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768857	51768857	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51768857G>A	ENST00000316401.7	+	3	639	c.258G>A	c.(256-258)ggG>ggA	p.G86G	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TCTGTGAGGGGAAGAACCAAA	0.557000													68	36					0	0	0.003610	0	0
STARD6	147323	broad.mit.edu	37	18	51863607	51863607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:51863607C>T	ENST00000581310.1	-	6	528	c.155G>A	c.(154-156)gGg>gAg	p.G52E	STARD6_ENST00000580990.2_5'UTR|STARD6_ENST00000307844.3_Missense_Mutation_p.G52E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	52	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGGAATTATCCCTTCAACACG	0.318000													9	51					0	0	0.006214	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627296	140627296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140627296G>A	ENST00000231173.3	+	1	2150	c.2150G>A	c.(2149-2151)aGc>aAc	p.S717N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		717					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGAGGAGCAGGGCGGCC	0.652000													61	196					0	0	0.003610	0	0
ACSM5	54988	broad.mit.edu	37	16	20442540	20442540	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20442540A>G	ENST00000331849.4	+	10	1353		c.e10-1			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTTCCTTACCAGATTGTGGAT	0.552000													18	32					0	0	0.007413	0	0
LRRC7	57554	broad.mit.edu	37	1	70478725	70478725	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:70478725G>A	ENST00000310961.5	+	14	1522	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	LRRC7_ENST00000035383.5_Silent_p.E363E|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	363						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCTGAAGAGATTGGACAGA	0.323000													8	11					0	0	0.006214	0	0
MYO18B	84700	broad.mit.edu	37	22	26242110	26242110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:26242110C>T	ENST00000335473.7	+	19	3662	c.3412C>T	c.(3412-3414)Cct>Tct	p.P1138S	MYO18B_ENST00000407587.2_Missense_Mutation_p.P1139S|MYO18B_ENST00000536101.1_Missense_Mutation_p.P1138S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1138	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.P1139>?(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGCTGCCTCCTGTGTGCCG	0.647000													7	16					0	0	0.004482	0	0
MUC6	4588	broad.mit.edu	37	11	1017368	1017368	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1017368G>A	ENST00000421673.2	-	31	5483	c.5433C>T	c.(5431-5433)tcC>tcT	p.S1811S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1811	Approximate repeats.|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)		CAGGACCTGTGGAAGAGATGG	0.587000													100	1081					0	0	0.003610	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125368	103125368	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:103125368C>T	ENST00000295269.4	+	6	1921	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	488					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAAAAGAATCCATCAATGAAG	0.358000													27	26					0	0	0.001786	0	0
MGAT1	4245	broad.mit.edu	37	5	180219449	180219449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180219449C>T	ENST00000446023.2	-	3	1273	c.523G>A	c.(523-525)Gac>Aac	p.D175N	MGAT1_ENST00000333055.3_Missense_Mutation_p.D175N|MGAT1_ENST00000307826.4_Missense_Mutation_p.D175N|MGAT1_ENST00000427865.2_Missense_Mutation_p.D175N|MGAT1_ENST00000393340.3_Missense_Mutation_p.D175N	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	175					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCGGTGGTCCGGCGGCACC	0.701000													38	96					0	0	0.002522	0	0
MST1L	11223	broad.mit.edu	37	1	17085051	17085051	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17085051C>T	ENST00000455405.2	-	0	137																											CCGATCCACCCTCTTGCCACA	0.602000													9	53					0	0	0.002450	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57642615G>A	ENST00000254181.4	+	4	3026	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_ENST00000598197.1_Missense_Mutation_p.D858N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACAACGATCTATGTGT	0.453000													14	37					0	0	0.003163	0	0
PAX8	7849	broad.mit.edu	37	2	113999598	113999598	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113999598C>T	ENST00000429538.3	-	6	782	c.588G>A	c.(586-588)agG>agA	p.R196R	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Silent_p.R196R|PAX8_ENST00000348715.5_Silent_p.R196R|PAX8_ENST00000263334.5_Silent_p.R196R|PAX8_ENST00000263335.7_Silent_p.R196R|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	196					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CATCCATTTTCCTCTTGTCGC	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						5	14					0	0	0.003080	0	0
ADORA1	134	broad.mit.edu	37	1	203098205	203098205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:203098205C>T	ENST00000367236.4	+	2	1157	c.236C>T	c.(235-237)aCc>aTc	p.T79I	ADORA1_ENST00000337894.4_Missense_Mutation_p.T79I|ADORA1_ENST00000367235.1_Missense_Mutation_p.T79I|ADORA1_ENST00000309502.3_Missense_Mutation_p.T79I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	79					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TACTTCCACACCTGCCTCATG	0.617000													57	216					0	0	0.003610	0	0
CPB1	1360	broad.mit.edu	37	3	148559660	148559660	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:148559660C>T	ENST00000491148.1	+	7	859	c.525C>T	c.(523-525)ttC>ttT	p.F175F	CPB1_ENST00000282957.4_Silent_p.F175F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	175					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTGTGGTTTCCATGCCAGAG	0.408000													18	53					0	0	0.001523	0	0
OTOP2	92736	broad.mit.edu	37	17	72926963	72926963	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72926963C>T	ENST00000331427.4	+	6	1325	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	OTOP2_ENST00000580223.1_Silent_p.I411I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	411						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTCATGATCGCCCAGCACA	0.612000													52	30					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9077700	9077700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9077700G>A	ENST00000397910.4	-	3	9949	c.9746C>T	c.(9745-9747)tCc>tTc	p.S3249F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3250	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGGCTGTGGACTGAAGGGT	0.512000													22	33					0	0	0.002780	0	0
PTGDS	5730	broad.mit.edu	37	9	139873751	139873751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139873751C>T	ENST00000224167.2	+	3	406	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Splice_Site_p.H111_splice			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	111					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	p.H111N(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGGAGTCCCCGTGAGTGGGG	0.701000													32	20					0	0	0.001786	0	0
CACNA1A	773	broad.mit.edu	37	19	13325357	13325357	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13325357G>A	ENST00000360228.5	-	39	5796	c.5797C>T	c.(5797-5799)Ctg>Ttg	p.L1933L	CACNA1A_ENST00000573710.2_Silent_p.L1934L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1934					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCTGGGACAGATTGGGCCAA	0.587000													18	37					0	0	0.002299	0	0
HSF5	124535	broad.mit.edu	37	17	56565288	56565288	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:56565288G>A	ENST00000323777.3	-	1	457	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCGCGGCGGAAGTGCGGGT	0.706000													28	54					0	0	0.002836	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810526	140810526	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140810526T>C	ENST00000252085.3	+	1	342	c.200T>C	c.(199-201)aTc>aCc	p.I67T	PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCGCATCATCCCCAGAGGT	0.662000													60	51					0	0	0.003610	0	0
MROH5	389690	broad.mit.edu	37	8	142500263	142500263	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142500263G>A	ENST00000430863.1	-	0	731					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TTCTGTGTGGGAAGACGCCCG	0.642000													27	24					0	0	0.001512	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531413	140531413	+	Silent	SNP	C	C	T	rs144225778		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140531413C>T	ENST00000231136.1	+	1	1575	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	PCDHB6_ENST00000543635.1_Silent_p.F389F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		525	Cadherin 5.				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)			TGCAGTCTTTCGAGTTCCGCG	0.672000													30	68					0	0	0.002445	0	0
MDFI	4188	broad.mit.edu	37	6	41617375	41617375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:41617375C>T	ENST00000373050.4	+	3	282	c.95C>T	c.(94-96)cCc>cTc	p.P32L				Q99750	MDFI_HUMAN	MyoD family inhibitor	93					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CAGGGGAACCCCTTGGGCTGC	0.647000													157	103					0	0	0.003610	0	0
SPC25	57405	broad.mit.edu	37	2	169732594	169732594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:169732594G>A	ENST00000282074.2	-	5	580	c.439C>T	c.(439-441)Cga>Tga	p.R147*		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	147	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAAATTTTTCGAATTTCTAGT	0.284000													7	11					0	0	0.001984	0	0
KCNB2	9312	broad.mit.edu	37	8	73480001	73480001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73480001G>A	ENST00000523207.1	+	2	620	c.32G>A	c.(31-33)aGg>aAg	p.R11K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	11					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCTTAAACAGGAAGACTTCA	0.507000													17	18					0	0	0.001523	0	0
SETD3	84193	broad.mit.edu	37	14	99865423	99865423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:99865423G>A	ENST00000331768.5	-	13	1537	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	460					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTTTGCACGAACAGAAAGA	0.388000													43	56					0	0	0.003610	0	0
PEX16	9409	broad.mit.edu	37	11	45937061	45937061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:45937061G>A	ENST00000532681.1	-	5	996	c.133C>T	c.(133-135)Cct>Tct	p.P45S	PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000378750.5_Missense_Mutation_p.P140S|PEX16_ENST00000241041.3_Missense_Mutation_p.P140S			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	140					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GGAACGATAGGGGGTGAAGTC	0.612000													23	62					0	0	0.004656	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255380	50255380	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50255380C>T	ENST00000420502.1	+	0	1040							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	ATGGCCTTCGCCTTCGTCTGC	0.622000													22	31					0	0	0.002780	0	0
BLK	640	broad.mit.edu	37	8	11414214	11414214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:11414214G>A	ENST00000259089.4	+	9	1412	c.820G>A	c.(820-822)Gga>Aga	p.G274R	RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.G203R	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	274	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCTGAAGGAGGGAACCATGTC	0.557000													24	110					0	0	0.004656	0	0
RIN3	79890	broad.mit.edu	37	14	93142946	93142946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:93142946G>A	ENST00000216487.7	+	8	2621	c.2462G>A	c.(2461-2463)gGg>gAg	p.G821E	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	821	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTGCAGCTGGGGGAGGGTGAG	0.617000													16	22					0	0	0.006122	0	0
ROBO3	64221	broad.mit.edu	37	11	124740918	124740918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124740918C>T	ENST00000397801.1	+	7	1234	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	ROBO3_ENST00000538940.1_Nonsense_Mutation_p.Q326*	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	348	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTCCCACCCCAGTTGGTGAC	0.577000													19	61					0	0	0.001216	0	0
LNX1	84708	broad.mit.edu	37	4	54347998	54347998	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:54347998G>A	ENST00000306888.2	-	6	1337	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	LNX1_ENST00000263925.7_Silent_p.L458L|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	458						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGACACGACGAGGTGAACAC	0.577000													12	18					0	0	0.003163	0	0
OR6M1	390261	broad.mit.edu	37	11	123676125	123676125	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:123676125C>T	ENST00000309154.2	-	1	970	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCAAGTTTTCCTTTGTATCA	0.373000													6	12					0	0	0.004482	0	0
GPR133	283383	broad.mit.edu	37	12	131471824	131471824	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:131471824C>T	ENST00000261654.5	+	6	1234	c.675C>T	c.(673-675)ttC>ttT	p.F225F	GPR133_ENST00000535015.1_Silent_p.F257F	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	225					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACGGTGCTTTCGATGAGTTCA	0.537000													31	62					0	0	0.002445	0	0
ABCB10	23456	broad.mit.edu	37	1	229683350	229683350	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:229683350T>A	ENST00000344517.4	-	3	859	c.817A>T	c.(817-819)Aac>Tac	p.N273Y		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	273	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGAGGCGGTTAATCAATTCT	0.527000													33	32					0	0	0.003755	0	0
ARL5B	221079	broad.mit.edu	37	10	18957538	18957538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:18957538C>T	ENST00000377275.3	+	3	420	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	63					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						CACTCATTTTCTTATGTGGGA	0.368000													17	19					0	0	0.006122	0	0
GEM	2669	broad.mit.edu	37	8	95262548	95262548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:95262548G>A	ENST00000297596.2	-	5	1145	c.881C>T	c.(880-882)tCt>tTt	p.S294F	GEM_ENST00000396194.2_Missense_Mutation_p.S294F	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	294					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTAGAGTACAGAGAGGTCATG	0.478000													37	42					0	0	0.002852	0	0
LRFN2	57497	broad.mit.edu	37	6	40399740	40399740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:40399740C>T	ENST00000338305.6	-	2	1655	c.1113G>A	c.(1111-1113)atG>atA	p.M371I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	371	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCTCCACCATGGCCGTGG	0.597000													23	50					0	0	0.002299	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238134	132238134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:132238134G>A	ENST00000321253.6	+	4	975	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	290					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTCTGTGGCCGAGATCACCAA	0.597000													67	129					0	0	0.003610	0	0
TCP11	6954	broad.mit.edu	37	6	35088242	35088242	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:35088242G>A	ENST00000311875.5	-	7	1353	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TCP11_ENST00000412155.2_Silent_p.L261L|TCP11_ENST00000418521.2_Silent_p.L236L|TCP11_ENST00000373979.2_Silent_p.L237L|TCP11_ENST00000244645.3_Silent_p.L237L|TCP11_ENST00000512012.1_Silent_p.L299L|TCP11_ENST00000444780.2_Silent_p.L307L|TCP11_ENST00000373974.4_Silent_p.L266L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	299					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCCAGAGAAGGAGGTTCAAGA	0.567000													16	29					0	0	0.001882	0	0
AKNA	80709	broad.mit.edu	37	9	117106048	117106048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:117106048G>A	ENST00000307564.4	-	19	3858	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S	AKNA_ENST00000374079.4_Missense_Mutation_p.P178S|AKNA_ENST00000374075.5_Missense_Mutation_p.P1152S|AKNA_ENST00000374088.3_Missense_Mutation_p.P1233S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.P693S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTGCCTTTTGGGACCGCCTTA	0.552000													51	47					0	0	0.003610	0	0
ALB	213	broad.mit.edu	37	4	74283322	74283322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74283322G>A	ENST00000295897.4	+	11	1453	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ALB_ENST00000401494.3_Missense_Mutation_p.G340E|ALB_ENST00000415165.2_Missense_Mutation_p.G263E|ALB_ENST00000509063.1_Missense_Mutation_p.G455E|ALB_ENST00000505649.1_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.G305E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	455	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGAAACCTAGGAAAAGTGGGC	0.358000													11	7					0	0	0.000673	0	0
ZFX	7543	broad.mit.edu	37	X	24229003	24229003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:24229003C>T	ENST00000379177.1	+	11	2355	c.1928C>T	c.(1927-1929)tCg>tTg	p.S643L	ZFX_ENST00000539115.1_Missense_Mutation_p.S414L|ZFX_ENST00000540034.1_Missense_Mutation_p.S682L|ZFX_ENST00000304543.5_Missense_Mutation_p.S643L|ZFX_ENST00000338565.3_Missense_Mutation_p.S593L|ZFX_ENST00000379188.3_Missense_Mutation_p.S643L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAAGAGTTCGAACTCAAGT	0.433000													34	68					0	0	0.004289	0	0
DNAH5	1767	broad.mit.edu	37	5	13824359	13824359	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:13824359C>T	ENST00000265104.4	-	39	6632	c.6528G>A	c.(6526-6528)acG>acA	p.T2176T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2176					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2176T(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)					TCGTGGACTCCGTATCCATTG	0.438000									Kartagener syndrome				14	13					0	0	0.004990	0	0
APLP1	333	broad.mit.edu	37	19	36361874	36361874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:36361874C>T	ENST00000221891.4	+	3	560	c.368C>T	c.(367-369)tCc>tTc	p.S123F	APLP1_ENST00000537454.2_Missense_Mutation_p.S84F|APLP1_ENST00000586861.1_Missense_Mutation_p.S117F	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	123					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCGGGGGTTCCCGGAGCGGC	0.672000													4	9					0	0	0.000248	0	0
AADAC	13	broad.mit.edu	37	3	151545949	151545949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151545949G>A	ENST00000232892.6	+	5	1315	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	397					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGGCTAAAGGAAAATCTATA	0.303000													8	20					0	0	0.003080	0	0
SPTA1	6708	broad.mit.edu	37	1	158631199	158631199	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158631199C>T	ENST00000368148.3	-	18	2645	c.2464_splice	c.e18-1	p.G822_splice	SPTA1_ENST00000368147.3_Splice_Site_p.G822_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	822					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGGTCCTTTCCTGCAGAGGA	0.428000													30	119					0	0	0.002445	0	0
FAM32A	26017	broad.mit.edu	37	19	16301698	16301698	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:16301698G>A	ENST00000263384.7	+	4	296	c.270_splice	c.e4-1	p.D91_splice	FAM32A_ENST00000589852.1_Splice_Site_p.D71_splice|FAM32A_ENST00000588367.1_Splice_Site_p.D73_splice	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	91						nucleolus				lung(1)	1						ACCTCCCCAGGACTTCAACAG	0.597000													36	49					0	0	0.003214	0	0
CCDC120	90060	broad.mit.edu	37	X	48920024	48920024	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48920024C>T	ENST00000376396.3	+	4	294	c.75C>T	c.(73-75)ccC>ccT	p.P25P	CCDC120_ENST00000603986.1_Silent_p.P60P|CCDC120_ENST00000422185.2_Silent_p.P25P|CCDC120_ENST00000597275.1_Silent_p.P25P|CCDC120_ENST00000536628.2_Silent_p.P13P|CCDC120_ENST00000496529.2_Silent_p.P25P	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	25							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGGCTGCCCCCCAGGTGAAGT	0.637000													43	27					0	0	0.003610	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150528642	150528642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150528642C>T	ENST00000271643.4	+	9	1612	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P459L|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P482L|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.P459L	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	459					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAGAGCCCCGGCTGTGAT	0.622000													51	55					0	0	0.003610	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947427	139947427	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:139947427T>C	ENST00000514199.1	+	2	2359	c.673T>C	c.(673-675)Tac>Cac	p.Y225H	SLC35A4_ENST00000323146.3_Missense_Mutation_p.Y225H|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	225	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTTCCTCTACACTTTTGG	0.572000													28	92					0	0	0.001512	0	0
GPR112	139378	broad.mit.edu	37	X	135482077	135482077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135482077G>A	ENST00000394143.1	+	21	8668	c.8377G>A	c.(8377-8379)Gta>Ata	p.V2793I	GPR112_ENST00000370652.1_Missense_Mutation_p.V2793I|GPR112_ENST00000412101.1_Missense_Mutation_p.V2588I|GPR112_ENST00000394141.1_Missense_Mutation_p.V2588I|GPR112_ENST00000287534.4_Missense_Mutation_p.V2546I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2793					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTAAACCTGGTATTTTTGAT	0.378000													19	51					0	0	0.001216	0	0
MAGT1	84061	broad.mit.edu	37	X	77112285	77112285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77112285C>T	ENST00000358075.6	-	5	799	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	206					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ATTACTTCTTCGAAGATACAC	0.358000													34	72					0	0	0.003271	0	0
GRM2	2912	broad.mit.edu	37	3	51749360	51749360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:51749360C>T	ENST00000395052.3	+	4	1805	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	524					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTCTGCATTCCGTGCCAGCCC	0.627000													14	38					0	0	0.004990	0	0
GGN	199720	broad.mit.edu	37	19	38877615	38877615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38877615G>A	ENST00000334928.6	-	3	419	c.287C>T	c.(286-288)cCa>cTa	p.P96L	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	96	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGGGGGTGGTGCAGAGAC	0.726000													5	10					0	0	0.001984	0	0
FLNB	2317	broad.mit.edu	37	3	58095019	58095019	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:58095019A>G	ENST00000357272.4	+	14	2334	c.2169A>G	c.(2167-2169)ggA>ggG	p.G723G	FLNB_ENST00000358537.3_Silent_p.G723G|FLNB_ENST00000295956.4_Silent_p.G723G|FLNB_ENST00000490882.1_Silent_p.G723G|FLNB_ENST00000419752.2_Silent_p.G554G|FLNB_ENST00000348383.5_Silent_p.G723G|FLNB_ENST00000429972.2_Silent_p.G723G|FLNB_ENST00000493452.1_Silent_p.G554G			O75369	FLNB_HUMAN	filamin B, beta	723					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTCTGGGGAGGCGTGAACA	0.542000													4	19					0	0	0.000248	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900709	4900709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:4900709G>A	ENST00000404991.1	-	1	916	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	244					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACACCTCCGAGGAAACCTAAT	0.428000													103	131					0	0	0.003610	0	0
COL19A1	1310	broad.mit.edu	37	6	70886433	70886433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:70886433C>T	ENST00000322773.4	+	42	2746	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P504S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	882	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGCAGGTCCCCCAGGAAT	0.403000													6	1					0	0	0.001984	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756499	94756499	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94756499G>A	ENST00000554723.1	-	2	970	c.552C>T	c.(550-552)ctC>ctT	p.L184L	SERPINA10_ENST00000554173.1_Silent_p.L144L|SERPINA10_ENST00000261994.4_Silent_p.L144L|SERPINA10_ENST00000393096.1_Silent_p.L144L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	144					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTCCCTTAAAGAGGGAAGGCA	0.577000													25	89					0	0	0.005443	0	0
SMTN	6525	broad.mit.edu	37	22	31486825	31486825	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:31486825C>T	ENST00000333137.7	+	9	1115	c.897C>T	c.(895-897)tcC>tcT	p.S299S	SMTN_ENST00000358743.1_Silent_p.S299S|SMTN_ENST00000347557.2_Silent_p.S299S	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	299					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCAACGCTCCCTGTCGGTGC	0.622000													54	79					0	0	0.003610	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194462	70194462	+	Missense_Mutation	SNP	C	C	T	rs145476630		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:70194462C>T	ENST00000253925.7	+	16	2314	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S700F	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	700					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGTGGGCGCTCCACCCCACGA	0.602000													82	55					0	0	0.003610	0	0
ATF7	11016	broad.mit.edu	37	12	53925563	53925563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53925563G>A	ENST00000420353.2	-	9	1041	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	ATF7_ENST00000548446.2_Nonsense_Mutation_p.Q309*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.Q309*|ATF7_ENST00000456903.4_Nonsense_Mutation_p.Q298*|ATF7_ENST00000415113.1_Nonsense_Mutation_p.Q277*|RP11-793H13.10_ENST00000591834.1_Nonsense_Mutation_p.Q298*	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	309					interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TCAGGGTGCTGGATGAGAATC	0.502000													15	16					0	0	0.004007	0	0
PRB1	5542	broad.mit.edu	37	12	11506165	11506165	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:11506165T>C	ENST00000500254.2	-	4	510	c.473A>G	c.(472-474)aAt>aGt	p.N158S	PRB1_ENST00000546254.1_Missense_Mutation_p.N158S|PRB1_ENST00000545626.1_Missense_Mutation_p.N138S	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	352	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].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			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)			ACCTTGAGGATTGTTGCCTTC	0.632000													24	32					0	0	0.001786	0	0
FAT1	2195	broad.mit.edu	37	4	187539951	187539951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:187539951G>A	ENST00000441802.2	-	10	7998	c.7789C>T	c.(7789-7791)Cga>Tga	p.R2597*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2597	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTGCTCGAAATTGTGGT	0.463000										HNSCC(5;0.00058)			13	11					0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348014	140348014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140348014G>A	ENST00000289269.5	+	1	2195	c.1663G>A	c.(1663-1665)Ggg>Agg	p.G555R	PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		555	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGACAAGGGGAGCCCACC	0.512000													23	75					0	0	0.004656	0	0
PVRL3	25945	broad.mit.edu	37	3	110852485	110852485	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:110852485C>A	ENST00000485303.1	+	6	1348	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	PVRL3_ENST00000319792.3_Intron|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	358					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCATTAGATCCTCCTACTACT	0.438000													7	15					0.000157383	0.00031493	0.003080	1	0
DLG5	9231	broad.mit.edu	37	10	79565488	79565488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:79565488G>A	ENST00000372391.2	-	27	5104	c.5099C>T	c.(5098-5100)tCc>tTc	p.S1700F	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.S1360F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1700					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCGTCCTTGGACCCGCTGCG	0.537000													54	60					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82784410	82784410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82784410G>A	ENST00000423517.2	-	2	1884	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	PCLO_ENST00000333891.8_Missense_Mutation_p.P516L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	462	Pro-rich.				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						GGGCTTTGCTGGGCCAGGCTG	0.602000													197	211					0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156810770	156810770	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156810770C>T	ENST00000368195.3	-	22	4185	c.3789G>A	c.(3787-3789)ccG>ccA	p.P1263P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1263					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGGCATTCCGGGCTGTAGT	0.642000													18	33					0	0	0.007413	0	0
WDR25	79446	broad.mit.edu	37	14	100996347	100996347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:100996347C>T	ENST00000335290.6	+	7	1830	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	WDR25_ENST00000402312.3_Missense_Mutation_p.S535F|WDR25_ENST00000554998.1_Missense_Mutation_p.S535F|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000542471.2_Missense_Mutation_p.S278F	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	535										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCCACCTGCTCCTGGGGAGGG	0.617000													34	67					0	0	0.004289	0	0
NDUFS8	4728	broad.mit.edu	37	11	67803946	67803946	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67803946C>T	ENST00000313468.5	+	7	626	c.519C>T	c.(517-519)ttC>ttT	p.F173F	NDUFS8_ENST00000528492.1_Silent_p.F27F	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	173					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	ACTTTGAGTTCTCCACGGAGA	0.632000													10	31					0	0	0.006214	0	0
TAF5L	27097	broad.mit.edu	37	1	229730170	229730170	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:229730170G>A	ENST00000258281.2	-	5	1809	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A	TAF5L_ENST00000366676.1_Silent_p.A548A	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	548					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGGAGCCGTCGGCAGGTGCAC	0.597000													12	36					0	0	0.000978	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563302	140563302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140563302C>T	ENST00000361016.2	+	1	2323	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGACCTTCCCTTTCTTCT	0.463000													61	36					0	0	0.003610	0	0
TNRC6A	27327	broad.mit.edu	37	16	24816999	24816999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:24816999C>T	ENST00000395799.3	+	15	4325	c.4196C>T	c.(4195-4197)gCc>gTc	p.A1399V	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A1350V|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1399					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAACAGGTAGCCATGCTGAAC	0.448000													37	52					0	0	0.005524	0	0
MED12L	116931	broad.mit.edu	37	3	151093962	151093962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151093962G>A	ENST00000474524.1	+	26	3946	c.3908G>A	c.(3907-3909)gGg>gAg	p.G1303E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G1163E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1303					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTACCGAGGGGGACAATCTG	0.368000													3	10					0	0	0.000248	0	0
CES5A	221223	broad.mit.edu	37	16	55886903	55886903	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:55886903T>G	ENST00000521992.1	-	11	1395	c.1250A>C	c.(1249-1251)gAa>gCa	p.E417A	CES5A_ENST00000520435.1_Missense_Mutation_p.E358A|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.E282A|CES5A_ENST00000319165.9_Missense_Mutation_p.E388A|CES5A_ENST00000290567.9_Missense_Mutation_p.E388A	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	388						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATGGAAGTATTCATTAGCCAC	0.473000													25	13					0	0	0.007291	0	0
SP140L	93349	broad.mit.edu	37	2	231235655	231235655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:231235655G>A	ENST00000243810.6	+	6	556	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	SP140L_ENST00000415673.2_Missense_Mutation_p.E186K|SP140L_ENST00000396563.4_Missense_Mutation_p.E186K|SP140L_ENST00000458341.1_Missense_Mutation_p.E99K|SP140L_ENST00000444636.1_Missense_Mutation_p.E186K			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	186						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGCAAGGAAGGAAAGTGACCA	0.562000													6	8					0	0	0.001168	0	0
GABRA6	2559	broad.mit.edu	37	5	161116746	161116746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:161116746G>A	ENST00000523217.1	+	6	846	c.604G>A	c.(604-606)Gga>Aga	p.G202R	GABRA6_ENST00000274545.5_Missense_Mutation_p.G212R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	212					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGATCTGATTGGACAAACAGT	0.373000										TCGA Ovarian(5;0.080)			34	25					0	0	0.002836	0	0
RP1	6101	broad.mit.edu	37	8	55537640	55537640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55537640C>T	ENST00000220676.1	+	4	1346	c.1198C>T	c.(1198-1200)Caa>Taa	p.Q400*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	400					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGCAGTAATCAAGAGGGCAG	0.443000													17	68					0	0	0.004990	0	0
NSMCE2	286053	broad.mit.edu	37	8	126114576	126114576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:126114576C>T	ENST00000287437.3	+	3	220	c.4C>T	c.(4-6)Cca>Tca	p.P2S	NSMCE2_ENST00000522563.1_Missense_Mutation_p.P2S	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	2					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTTCAAGATGCCAGGACGTTC	0.373000													175	202					0	0	0.003610	0	0
ABHD12B	145447	broad.mit.edu	37	14	51347195	51347195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:51347195G>A	ENST00000337334.2	+	4	376	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.E14K|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.E44K	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	121							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CTGCCGGGGGGAAGATGCCAA	0.498000													22	76					0	0	0.001882	0	0
PIF1	80119	broad.mit.edu	37	15	65112061	65112061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:65112061G>A	ENST00000268043.4	-	8	1412	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F	PIF1_ENST00000333425.6_Missense_Mutation_p.L440F|PIF1_ENST00000559239.1_Missense_Mutation_p.L440F			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	440	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGCTCCTGAAGCCGCCTCTCG	0.637000													30	46					0	0	0.007291	0	0
ITPR3	3710	broad.mit.edu	37	6	33656527	33656527	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:33656527C>T	ENST00000374316.5	+	50	7723	c.6663C>T	c.(6661-6663)ttC>ttT	p.F2221F	ITPR3_ENST00000605930.1_Silent_p.F2221F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2221					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCATTGCCTTCTTCTACCCTT	0.607000													22	69					0	0	0.003330	0	0
AMER1	139285	broad.mit.edu	37	X	63411497	63411497	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:63411497T>A	ENST00000330258.3	-	2	1942	c.1670A>T	c.(1669-1671)gAg>gTg	p.E557V	AMER1_ENST00000374869.3_Missense_Mutation_p.E557V|AMER1_ENST00000403336.1_Missense_Mutation_p.E557V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.E557fs*22(1)									CCGTTCTTCCTCTGTCTCCAT	0.552000													16	66					0	0	0.006122	0	0
RAI1	10743	broad.mit.edu	37	17	17707084	17707084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17707084C>A	ENST00000353383.1	+	4	6049	c.5580C>A	c.(5578-5580)tgC>tgA	p.C1860*	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1860						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTTCCAGCTGCCAAGAAGCCG	0.597000													21	70					3.5997e-14	7.25847e-14	0.002299	1	0
CPNE5	57699	broad.mit.edu	37	6	36716035	36716035	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:36716035G>A	ENST00000244751.2	-	15	1605	c.981C>T	c.(979-981)atC>atT	p.I327I	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.I35I	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	327										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGTGAAGTTGATCTGGGTCC	0.582000													41	73					0	0	0.002852	0	0
ZNF696	79943	broad.mit.edu	37	8	144378412	144378412	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:144378412C>T	ENST00000330143.3	+	3	976	c.567C>T	c.(565-567)gcC>gcT	p.A189A		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGCAAGGCCTTCGGCCAGA	0.716000													18	9					0	0	0.004990	0	0
SUSD2	56241	broad.mit.edu	37	22	24580780	24580780	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:24580780C>T	ENST00000358321.3	+	5	915	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	218					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CGTACCTGTACCCCCTGGCCA	0.597000													11	44					0	0	0.001368	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085136	134085136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:134085136C>T	ENST00000514516.1	-	4	1527	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	AMOTL2_ENST00000249883.5_Missense_Mutation_p.R392Q|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R392Q|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R392Q	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	392										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCTAAGATCCCGGTTGAAGTC	0.507000													191	319					0	0	0.003610	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977982	12977982	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:12977982G>A	ENST00000273221.4	-	3	792	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	192					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTCCCCTCGAAGTAGGAGC	0.592000													38	22					0	0	0.002522	0	0
OMD	4958	broad.mit.edu	37	9	95179324	95179324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95179324C>T	ENST00000375550.4	-	2	792	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	173					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TTGGAGATTTCATTGTAACCA	0.353000			T	USP6	aneurysmal bone cysts								9	11					0	0	0.006214	0	0
ZNF318	24149	broad.mit.edu	37	6	43325003	43325003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:43325003G>A	ENST00000361428.2	-	3	1126	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	ZNF318_ENST00000318149.3_Missense_Mutation_p.S350F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	350					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGGGATGGAACAGCCAGT	0.512000													12	35					0	0	0.000978	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143175752G>A	ENST00000408916.1	+	1	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	263					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473000													18	27					0	0	0.001523	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613498	175613498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:175613498C>T	ENST00000348749.5	-	8	1129	c.1052G>A	c.(1051-1053)aGa>aAa	p.R351K	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R269K|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R376K|CHRNA1_ENST00000409219.1_Intron	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	376					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R376I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCTGGATGGTCTTTTCATTGT	0.393000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	13					0	0	0.003271	0	0
CUL9	23113	broad.mit.edu	37	6	43168531	43168531	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:43168531C>T	ENST00000252050.4	+	16	3690	c.3606C>T	c.(3604-3606)tcC>tcT	p.S1202S	CUL9_ENST00000354495.3_Silent_p.S1092S|CUL9_ENST00000372647.2_Silent_p.S1202S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1202	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACCGGCTCCCACTACATCA	0.577000													24	44					0	0	0.005443	0	0
COL28A1	340267	broad.mit.edu	37	7	7480461	7480461	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:7480461T>A	ENST00000399429.3	-	21	1822	c.1682A>T	c.(1681-1683)aAt>aTt	p.N561I		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	561	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTGTCCTTGATTTCCTTTGCT	0.408000													5	35					0	0	0.001984	0	0
TSPYL2	64061	broad.mit.edu	37	X	53115420	53115420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53115420G>A	ENST00000375442.4	+	6	1978	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	616	Asp-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CTTTGACAAGGATCAGGCTGA	0.478000													19	66					0	0	0.001882	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799445	140799445	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140799445G>A	ENST00000398594.2	+	1	2019	c.2019G>A	c.(2017-2019)ccG>ccA	p.P673P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGCCGGATTTCAGCG	0.577000													21	28					0	0	0.001882	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810530	140810530	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140810530C>A	ENST00000252085.3	+	1	346	c.204C>A	c.(202-204)ccC>ccA	p.P68P	PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCATCCCCAGAGGTAGGA	0.657000													61	49					5.5144e-22	1.11583e-21	0.003610	1	0
KCND2	3751	broad.mit.edu	37	7	119915195	119915195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:119915195G>A	ENST00000331113.4	+	1	1474	c.509G>A	c.(508-510)aGg>aAg	p.R170K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	170					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAAGGCAGAGGGTCTGGAGG	0.612000													12	61					0	0	0.001855	0	0
NSUN4	387338	broad.mit.edu	37	1	46810632	46810632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:46810632C>T	ENST00000474844.1	+	2	903	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	NSUN4_ENST00000537428.1_Missense_Mutation_p.H36Y|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.H36Y	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	85							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGCCTGGGATCATGTAAGTGC	0.512000													78	7					0	0	0.003610	0	0
OR1L3	26735	broad.mit.edu	37	9	125437455	125437455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125437455G>A	ENST00000304820.2	+	1	141	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ATTCTCTTGGGACTCTCCTCT	0.423000													8	13					0	0	0.003080	0	0
ACSL5	51703	broad.mit.edu	37	10	114154853	114154853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:114154853G>A	ENST00000393081.1	+	2	456	c.149G>A	c.(148-150)gGa>gAa	p.G50E	ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000356116.1_Missense_Mutation_p.G106E|ACSL5_ENST00000354273.4_Missense_Mutation_p.G50E|ACSL5_ENST00000354655.4_Missense_Mutation_p.G50E|ACSL5_ENST00000433418.1_Missense_Mutation_p.G50E	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	50					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CAGTCTGTGGGAATTGAGGTA	0.453000													6	6					0	0	0.001168	0	0
OR52E2	119678	broad.mit.edu	37	11	5080804	5080804	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5080804C>T	ENST00000321522.2	-	1	53	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTCCTGGGATCCCCAGCAACA	0.473000													3	5					0	0	0.004672	0	0
KRT37	8688	broad.mit.edu	37	17	39578654	39578654	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39578654C>T	ENST00000225550.3	-	4	764	c.765G>A	c.(763-765)gaG>gaA	p.E255E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	255	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCCGGAACTTCTCCCCCAGCT	0.562000													57	114					0	0	0.003610	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999045	143999045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:143999045G>A	ENST00000323110.2	-	1	214	c.212C>T	c.(211-213)aCc>aTc	p.T71I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	71					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTCCTGGAAGGTCTGGTGCAT	0.627000									Familial Hyperaldosteronism type I				50	46					0	0	0.003610	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893344	44893344	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:44893344G>A	ENST00000341255.3	-	2	602	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	31										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TGAGGCGCAGGGAGGTCAGGG	0.622000													18	59					0	0	0.006122	0	0
BCOR	54880	broad.mit.edu	37	X	39933240	39933240	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:39933240G>A	ENST00000342274.4	-	4	1721	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	BCOR_ENST00000378455.4_Silent_p.S453S|BCOR_ENST00000397354.3_Silent_p.S453S|BCOR_ENST00000378444.4_Silent_p.S453S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	453					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						GGTCAGCTTTGGAAGCATCTA	0.502000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						55	46					0	0	0.003610	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907332	164907332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:164907332C>T	ENST00000475390.1	-	2	1730	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.W429*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	429						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						AAGAAAAATTCCAAAAATCAG	0.393000										HNSCC(40;0.11)			23	36					0	0	0.002299	0	0
KRT33B	3884	broad.mit.edu	37	17	39525715	39525715	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39525715C>T	ENST00000251646.3	-	1	337	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	96	Linker 1.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACAGCAAGGGCTCCTGCTGCT	0.607000													38	22					0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100231990	100231990	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100231990C>T	ENST00000305046.8	-	8	1102	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	ADH1B_ENST00000394887.3_Silent_p.A305A			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	345					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGGTTATTAACGCATCCAGTG	0.338000													25	21					0	0	0.005443	0	0
DNAH17	8632	broad.mit.edu	37	17	76446440	76446440	+	Missense_Mutation	SNP	C	C	T	rs143100405		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76446440C>T	ENST00000389840.5	-	68	11018	c.10894G>A	c.(10894-10896)Gaa>Aaa	p.E3632K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E3641K|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTCTCGCTTCGTTGATTTTA	0.512000													12	20					0	0	0.001855	0	0
PLCB4	5332	broad.mit.edu	37	20	9404525	9404525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9404525G>A	ENST00000378501.2	+	24	2429	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	PLCB4_ENST00000278655.4_Missense_Mutation_p.G805E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G817E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G805E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G817E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G805E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	805					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGAAATGAGGGAAATAAACCA	0.408000													7	19					0	0	0.001984	0	0
LEPR	3953	broad.mit.edu	37	1	66067284	66067284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:66067284C>T	ENST00000349533.6	+	9	1389	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	LEPR_ENST00000344610.8_Nonsense_Mutation_p.R402*|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Nonsense_Mutation_p.R402*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.R402*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.R402*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	402	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AACCAAACCTCGAGGAAAGTT	0.368000													36	1					0	0	0.003271	0	0
ZC3H13	23091	broad.mit.edu	37	13	46563054	46563054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:46563054G>A	ENST00000242848.4	-	9	1471	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P375S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	375	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAATGTGAAGGATAAGGAGAG	0.468000													15	9					0	0	0.002450	0	0
ATP2A1	487	broad.mit.edu	37	16	28913328	28913328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:28913328G>A	ENST00000395503.4	+	16	2429	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	ATP2A1_ENST00000536376.1_Missense_Mutation_p.E624K|ATP2A1_ENST00000357084.3_Missense_Mutation_p.E749K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	749					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCTGTGGAGGAGGGCCGCGC	0.592000													13	45					0	0	0.002450	0	0
INSR	3643	broad.mit.edu	37	19	7132257	7132257	+	Silent	SNP	C	C	T	rs148994508		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7132257C>T	ENST00000341500.5	-	13	2757	c.2718G>A	c.(2716-2718)ccG>ccA	p.P906P	INSR_ENST00000302850.5_Silent_p.P918P	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	918	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTAGTTCCCCGGTGACAGCC	0.607000													154	195					0	0	0.003610	0	0
TSPYL2	64061	broad.mit.edu	37	X	53117109	53117109	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53117109G>A	ENST00000375442.4	+	7	2202	c.2070G>A	c.(2068-2070)ggG>ggA	p.G690G		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	690					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGAAGAGGGGGAAAACCGGAT	0.572000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	33					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38843436	38843436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38843436C>T	ENST00000359357.3	+	51	7293	c.7039C>T	c.(7039-7041)Cat>Tat	p.H2347Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.H2311Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.H2564Y					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						CGAACATCTTCATAAATTATT	0.378000													4	12					0	0	0.000602	0	0
OR9G4	283189	broad.mit.edu	37	11	56510325	56510325	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:56510325C>T	ENST00000302957.3	-	1	962	c.963G>A	c.(961-963)caG>caA	p.Q321Q		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTTGTATAGTCTGTGTTGCTT	0.388000													22	85					0	0	0.007291	0	0
SCN1A	6323	broad.mit.edu	37	2	166897763	166897763	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166897763T>A	ENST00000423058.2	-	13	2410	c.2393A>T	c.(2392-2394)aAt>aTt	p.N798I	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770I|SCN1A_ENST00000303395.4_Missense_Mutation_p.N798I|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTAAGCACATTATTGAAATG	0.368000													15	41					0	0	0.002450	0	0
NLRC5	84166	broad.mit.edu	37	16	57099125	57099125	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:57099125G>A	ENST00000436936.1	+	33	4381	c.4154_splice	c.e33-1	p.V1386_splice	NLRC5_ENST00000308149.7_Splice_Site_p.V1357_splice|NLRC5_ENST00000262510.6_Splice_Site_p.V1386_splice|NLRC5_ENST00000539144.1_Splice_Site_p.V1357_splice			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1386					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGTGACAGGGTGCAGGAGCC	0.617000													7	16					0	0	0.003080	0	0
NLRP10	338322	broad.mit.edu	37	11	7981462	7981462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:7981462G>A	ENST00000328600.2	-	2	1858	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	566							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCATACAGGGAGAATTCCAA	0.363000													21	45					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179640501	179640501	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179640501G>A	ENST00000589042.1	-	28	6314	c.6090C>T	c.(6088-6090)ctC>ctT	p.L2030L	TTN_ENST00000591111.1_Silent_p.L2030L|TTN_ENST00000342992.6_Silent_p.L2030L|TTN_ENST00000359218.5_Silent_p.L1984L|TTN_ENST00000360870.5_Silent_p.L2030L|TTN_ENST00000460472.2_Silent_p.L1984L|TTN_ENST00000342175.6_Silent_p.L1984L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1792							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)			TCTTCCTGAGGAGTTCCTCAT	0.443000													13	25					0	0	0.001368	0	0
CCNA1	8900	broad.mit.edu	37	13	37007295	37007295	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:37007295C>T	ENST00000418263.1	+	2	581	c.231C>T	c.(229-231)ccC>ccT	p.P77P	CCNA1_ENST00000440264.1_Silent_p.P34P|CCNA1_ENST00000449823.1_Silent_p.P34P|CCNA1_ENST00000255465.4_Silent_p.P78P|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	78					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCCAGGATCCCCCGCAGAGGA	0.582000													29	59					0	0	0.007291	0	0
GPR179	440435	broad.mit.edu	37	17	36483548	36483548	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:36483548G>A	ENST00000342292.4	-	11	5924	c.5904C>T	c.(5902-5904)tcC>tcT	p.S1968S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1968						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W1960fs*10(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTGAGAGACGGAATCTGCTG	0.562000													14	31					0	0	0.003163	0	0
MX1	4599	broad.mit.edu	37	21	42830496	42830496	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:42830496C>T	ENST00000398600.2	+	19	2825	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	MX1_ENST00000288383.6_Silent_p.I577I|MX1_ENST00000455164.2_Silent_p.I600I|MX1_ENST00000398598.3_Silent_p.I600I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	600	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTTTGATCATCCAGTTCTTCA	0.587000													77	236					0	0	0.003610	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399922	87399922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:87399922G>A	ENST00000338056.3	+	8	1117	c.706G>A	c.(706-708)Gag>Aag	p.E236K	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E219K|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E219K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	236										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CAGTGATGAGGAGGAGCTAAG	0.388000													5	21					0	0	0.001168	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368554	37368554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:37368554C>T	ENST00000361924.2	+	14	5551	c.5177C>T	c.(5176-5178)tCc>tTc	p.S1726F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1748F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1726	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGCAGATTCCCAAGGCTGT	0.368000													18	47					0	0	0.002780	0	0
MON1A	84315	broad.mit.edu	37	3	49947834	49947834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49947834G>A	ENST00000417270.1	-	5	1814	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	MON1A_ENST00000455683.2_Missense_Mutation_p.P301L|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.P463L			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	366							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGCACACGGGCGTCCAGGC	0.587000													17	54					0	0	0.006122	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769552	15769552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15769552C>T	ENST00000221307.7	+	12	1378	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R444C|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R444C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R444C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	444					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCCCTTTCGCTTTGACCC	0.592000													88	94					0	0	0.003610	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189488	175189488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:175189488G>A	ENST00000454872.1	+	9	1723	c.1595G>A	c.(1594-1596)aGg>aAg	p.R532K	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	532					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTCCCATAAGGGGGAACTCT	0.378000													7	8					0	0	0.000673	0	0
LRCH3	84859	broad.mit.edu	37	3	197585732	197585732	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:197585732T>C	ENST00000438796.2	+	15	1716	c.1672T>C	c.(1672-1674)Tgt>Cgt	p.C558R	LRCH3_ENST00000441090.2_Missense_Mutation_p.C404R|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000425562.2_Missense_Mutation_p.C558R|LRCH3_ENST00000536618.1_Missense_Mutation_p.C153R|LRCH3_ENST00000334859.4_Missense_Mutation_p.C558R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	558						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAAGTGGGCTGTGCTGCTAC	0.453000													15	43					0	0	0.004007	0	0
NXF5	55998	broad.mit.edu	37	X	101097732	101097732	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:101097732C>T	ENST00000537026.1	-	3	392	c.33G>A	c.(31-33)agG>agA	p.R11R	NXF5_ENST00000361708.2_Silent_p.R11R|NXF5_ENST00000473265.2_Silent_p.R11R	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	11					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TGAACCATTTCCTCATGTTTT	0.423000													36	111					0	0	0.003610	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319602	21319602	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:21319602C>T	ENST00000583088.1	+	3	1843	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KCNJ12_ENST00000331718.5_Silent_p.Y316Y	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GCAGCTCCTACCTGGCCAATG	0.582000										Prostate(3;0.18)			9	205					0	0	0.004482	0	0
DOCK10	55619	broad.mit.edu	37	2	225637990	225637990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:225637990C>T	ENST00000409592.3	-	53	6183	c.6070G>A	c.(6070-6072)Gaa>Aaa	p.E2024K	DOCK10_ENST00000258390.7_Missense_Mutation_p.E2030K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2030	DHR-2.						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)		ATTGCCACTTCAATTGGATTC	0.438000													7	29					0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3239130	3239130	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:3239130A>T	ENST00000217939.6	-	5	4750	c.4596T>A	c.(4594-4596)aaT>aaA	p.N1532K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1532						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCACATAATTCAAGAAAA	0.443000													41	124					0	0	0.002222	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768631	51768631	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51768631A>G	ENST00000316401.7	+	3	413	c.32A>G	c.(31-33)aAg>aGg	p.K11R	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		GTACCTGCTAAGCTGCTCAAC	0.547000													18	51					0	0	0.001523	0	0
OR6B2	389090	broad.mit.edu	37	2	240969589	240969589	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:240969589G>A	ENST00000402971.2	-	1	317	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCTGCTGGAGGAGGAAGCCCT	0.567000													18	73					0	0	0.003954	0	0
NR5A2	2494	broad.mit.edu	37	1	200143284	200143284	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200143284G>A	ENST00000367362.3	+	8	1818	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	NR5A2_ENST00000544748.1_Silent_p.G452G|NR5A2_ENST00000236914.3_Silent_p.G478G	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	524					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ACCTGAACGGGGATGTGCCCT	0.448000													5	22					0	0	0.000602	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351548	89351548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89351548G>A	ENST00000301030.4	-	9	1862	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R468C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	468						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTCCGAAGCGAACCTCTCTG	0.517000													30	25					0	0	0.001512	0	0
ALB	213	broad.mit.edu	37	4	74270853	74270853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74270853C>T	ENST00000295897.4	+	2	189	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	ALB_ENST00000401494.3_Missense_Mutation_p.R34W|ALB_ENST00000415165.2_Missense_Mutation_p.R34W|ALB_ENST00000509063.1_Missense_Mutation_p.R34W|ALB_ENST00000503124.1_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	34	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGTTGCTCATCGGTTTAAAGA	0.279000													50	64					0	0	0.003610	0	0
SNTG1	54212	broad.mit.edu	37	8	51415352	51415352	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:51415352G>A	ENST00000522124.1	+	9	1039	c.378G>A	c.(376-378)cgG>cgA	p.R126R	SNTG1_ENST00000276467.5_Silent_p.R126R|SNTG1_ENST00000517473.1_Silent_p.R126R|SNTG1_ENST00000518864.1_Silent_p.R126R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGGTTCTTCGGAATGCTGGAG	0.333000													15	17					0	0	0.003163	0	0
ZNF587	84914	broad.mit.edu	37	19	58370674	58370674	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58370674T>G	ENST00000339656.5	+	3	1076	c.894T>G	c.(892-894)tgT>tgG	p.C298W	ZNF587_ENST00000419854.1_Missense_Mutation_p.C255W|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.C297W	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CTTATCCCTGTGAGGAGTGCG	0.463000													36	15					0	0	0.005524	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059036	79059036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:79059036G>A	ENST00000388820.4	-	19	3427	c.3217C>T	c.(3217-3219)Cac>Tac	p.H1073Y		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1073					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGATCCTCGTGGAAATTGATG	0.617000													26	89					0	0	0.005443	0	0
MYH6	4624	broad.mit.edu	37	14	23858907	23858907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23858907G>A	ENST00000405093.3	-	27	3824	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	MYH6_ENST00000356287.3_Missense_Mutation_p.R1252W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1252					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGCGTCCGAGACACTTTC	0.582000													48	66					0	0	0.003610	0	0
SPDYC	387778	broad.mit.edu	37	11	64939437	64939437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64939437C>T	ENST00000377185.2	+	3	305	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	75	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGGAATTCCTCTCCAAAGA	0.527000													26	56					0	0	0.001786	0	0
METTL20	254013	broad.mit.edu	37	12	31819115	31819115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:31819115G>A	ENST00000357721.3	+	3	624	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	METTL20_ENST00000538463.1_Missense_Mutation_p.G137R|METTL20_ENST00000395763.3_Missense_Mutation_p.G137R|METTL20_ENST00000412352.2_Missense_Mutation_p.G137R|METTL20_ENST00000538391.1_Intron	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	137						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						TAAGATGAGTGGGGCATCAAG	0.363000													25	51					0	0	0.001786	0	0
HGF	3082	broad.mit.edu	37	7	81381551	81381551	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:81381551T>C	ENST00000222390.5	-	5	736	c.510A>G	c.(508-510)aaA>aaG	p.K170K	HGF_ENST00000457544.2_Silent_p.K165K|HGF_ENST00000453411.1_Silent_p.K165K|HGF_ENST00000444829.2_Silent_p.K170K|HGF_ENST00000423064.2_Silent_p.K170K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	170	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTGTAGGTCTTTACCCCGAT	0.403000													17	23					0	0	0.001216	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654548	46654548	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:46654548G>T	ENST00000253255.5	-	1	4671	c.4672C>A	c.(4672-4674)Caa>Aaa	p.Q1558K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1558					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGATCCTTTTGGGAAGGGTGC	0.453000													8	294					0.000274275	0.000548645	0.004482	1	0
RTN1	6252	broad.mit.edu	37	14	60213067	60213067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60213067C>T	ENST00000267484.5	-	2	709	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	125					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.G125E(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAAGAATTCCAGTAAAATA	0.478000													5	28					0	0	0.001168	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324477	79324477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:79324477C>T	ENST00000428286.1	-	8	2836	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D905N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	905					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTTTAGGATCCACTAAACCA	0.433000													43	53					0	0	0.007835	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049332	42049332	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:42049332C>T	ENST00000372584.1	-	3	2151	c.1137G>A	c.(1135-1137)gcG>gcA	p.A379A	HIVEP3_ENST00000429157.2_Silent_p.A379A|HIVEP3_ENST00000372583.1_Silent_p.A379A|HIVEP3_ENST00000247584.5_Silent_p.A379A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	379	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCTCAGAAACGCCTGCTCAT	0.567000													41	32					0	0	0.002222	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049993	42049993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:42049993C>T	ENST00000372584.1	-	3	1490	c.476G>A	c.(475-477)gGa>gAa	p.G159E	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G159E|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G159E|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G159E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	159					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTGGGGACTCCAGGAAGGTC	0.607000													49	42					0	0	0.003610	0	0
C1RL	51279	broad.mit.edu	37	12	7261754	7261754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7261754C>T	ENST00000266542.4	-	1	115	c.23G>A	c.(22-24)gGg>gAg	p.G8E	C1RL-AS1_ENST00000536679.1_RNA|C1RL_ENST00000545280.1_Missense_Mutation_p.G8E|C1RL_ENST00000545337.1_Missense_Mutation_p.G8E|C1RL_ENST00000544702.1_Missense_Mutation_p.G8E|C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000541775.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	8					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	p.G8E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGATATTTCCCCCACACTCT	0.602000											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.000602	0	0
VARS	7407	broad.mit.edu	37	6	31747479	31747479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31747479G>A	ENST00000375663.3	-	27	3634	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1065					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGTCACGAAGGGCATGAAGGG	0.642000													162	410					0	0	0.003610	0	0
PAK7	57144	broad.mit.edu	37	20	9520183	9520183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9520183C>T	ENST00000378429.3	-	11	2632	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	PAK7_ENST00000378423.1_Missense_Mutation_p.G696R|PAK7_ENST00000353224.5_Missense_Mutation_p.G696R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	696	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATGGATGTCCGAGGAGTTCC	0.512000													41	42					0	0	0.002852	0	0
CACNA1F	778	broad.mit.edu	37	X	49068393	49068393	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49068393G>A	ENST00000376265.2	-	35	4159	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F	CACNA1F_ENST00000323022.5_Silent_p.F1355F|CACNA1F_ENST00000376251.1_Silent_p.F1301F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1366					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GAAAGGTCTGGAAGTTGTTGT	0.567000													25	46					0	0	0.006320	0	0
ATP10D	57205	broad.mit.edu	37	4	47582432	47582432	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:47582432C>T	ENST00000273859.3	+	20	3854	c.3585C>T	c.(3583-3585)acC>acT	p.T1195T	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1195					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TACCCCATACCTTCTGGATCA	0.378000													44	60					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57766181	57766181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57766181C>T	ENST00000371030.2	+	1	107	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	36	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCACCTGACCCTGGGCCCT	0.711000													37	38					0	0	0.004878	0	0
METTL17	64745	broad.mit.edu	37	14	21464435	21464435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:21464435C>T	ENST00000339374.6	+	12	1297	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	METTL17_ENST00000382985.4_Missense_Mutation_p.P355L|METTL17_ENST00000556670.2_Missense_Mutation_p.P355L|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	355					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GCGTACCATCCCATCCCCTTC	0.478000													128	161					0	0	0.003610	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891473	18891473	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18891473T>G	ENST00000317658.3	+	1	429	c.271T>G	c.(271-273)Tct>Gct	p.S91A		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	91					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAGCAAACTTTCTTTCAAATA	0.403000													11	14					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179656855	179656855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179656855C>T	ENST00000589042.1	-	10	1830	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	TTN_ENST00000591111.1_Missense_Mutation_p.E536K|TTN_ENST00000342992.6_Missense_Mutation_p.E536K|TTN_ENST00000359218.5_Missense_Mutation_p.E536K|TTN_ENST00000360870.5_Missense_Mutation_p.E536K|TTN_ENST00000460472.2_Missense_Mutation_p.E536K|TTN_ENST00000342175.6_Missense_Mutation_p.E536K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	536							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)			ATTCTAGTTTCTTGTTCTTTG	0.284000													22	15					0	0	0.002299	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377522	61377522	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:61377522C>T	ENST00000544088.1	+	0	157				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTCTTTTCTTCGCTGAGTCTG	0.428000													8	8					0	0	0.003080	0	0
ULBP1	80329	broad.mit.edu	37	6	150289957	150289957	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:150289957C>T	ENST00000229708.2	+	2	343	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ULBP1_ENST00000367345.1_Silent_p.F100F	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	100	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TGGTGGATTTCCTTAAAGGGC	0.418000													31	31					0	0	0.002445	0	0
KIF21B	23046	broad.mit.edu	37	1	200943301	200943301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200943301C>T	ENST00000332129.2	-	34	5113	c.4797G>A	c.(4795-4797)tgG>tgA	p.W1599*	KIF21B_ENST00000422435.2_Nonsense_Mutation_p.W1612*|KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000461742.2_Intron	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1612					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGACGTAATTCCACAACTTTA	0.627000													13	49					0	0	0.002450	0	0
ALPP	250	broad.mit.edu	37	2	233246397	233246397	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233246397C>T	ENST00000392027.2	+	11	1769	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	500						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ACCTGGCGCCCCCCGCCGGCA	0.731000													5	36					0	0	0.003080	0	0
C1QC	714	broad.mit.edu	37	1	22974025	22974025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:22974025C>T	ENST00000374639.3	+	3	605	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	C1QC_ENST00000374637.1_Missense_Mutation_p.P163S|C1QC_ENST00000374640.4_Missense_Mutation_p.P163S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	163	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGCAAAGTCCCCGGCCTCTA	0.592000													37	1					0	0	0.005524	0	0
KCNB1	3745	broad.mit.edu	37	20	47990833	47990833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:47990833C>T	ENST00000371741.4	-	2	1430	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	422					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTTCTGCTCCTTATAGAAC	0.498000													45	43					0	0	0.003214	0	0
ADAM8	101	broad.mit.edu	37	10	135085327	135085327	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:135085327G>A	ENST00000445355.3	-	11	1139	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	ADAM8_ENST00000415217.3_Silent_p.I363I|ADAM8_ENST00000485491.2_Silent_p.I324I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	324					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGCCCGCCATGATGCAGCGGC	0.672000													11	17					0	0	0.001368	0	0
NDN	4692	broad.mit.edu	37	15	23931489	23931489	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:23931489G>A	ENST00000331837.4	-	1	961	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	292	MAGE.				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)		CTCTGTATCGGGAGGGCCAGG	0.587000									Prader-Willi syndrome				38	46					0	0	0.006999	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:77766907G>A	ENST00000521891.2	+	10	8198	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2539						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)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)			6	16					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21924013	21924013	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21924013C>T	ENST00000328843.6	+	77	12544	c.12513C>T	c.(12511-12513)ttC>ttT	p.F4171F	DNAH11_ENST00000409508.3_Silent_p.F4164F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4171					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGAAGAATTCATGAATCCAT	0.348000									Kartagener syndrome				6	25					0	0	0.003080	0	0
CCKAR	886	broad.mit.edu	37	4	26483440	26483440	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:26483440G>A	ENST00000295589.3	-	5	1301	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGAAGCAGTAGATGATGGGGT	0.642000													58	51					0	0	0.003610	0	0
PNOC	5368	broad.mit.edu	37	8	28196831	28196831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:28196831C>T	ENST00000301908.3	+	3	609	c.401C>T	c.(400-402)aCc>aTc	p.T134I	PNOC_ENST00000522209.1_Missense_Mutation_p.T70I	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	134					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGGGGCTTCACCGGGGCCCGG	0.602000													31	40					0	0	0.002096	0	0
DNAH9	1770	broad.mit.edu	37	17	11603116	11603116	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11603116G>A	ENST00000262442.3	+	23	5009	c.4941G>A	c.(4939-4941)ggG>ggA	p.G1647G	DNAH9_ENST00000454412.2_Silent_p.G1647G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1647	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGCCAGTGGGGAACCAACCA	0.507000													11	16					0	0	0.000978	0	0
DDR2	4921	broad.mit.edu	37	1	162743360	162743360	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:162743360C>A	ENST00000367922.2	+	15	2268	c.1830C>A	c.(1828-1830)ctC>ctA	p.L610L	DDR2_ENST00000367921.3_Silent_p.L610L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	610	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGAAAATGCTCCGAGCAGATG	0.438000													12	24					1.3612e-06	2.73139e-06	0.003163	1	0
DSG3	1830	broad.mit.edu	37	18	29044140	29044140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:29044140C>T	ENST00000257189.4	+	9	1149	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	356	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTGAATTTCACCAATCAGT	0.383000													8	31					0	0	0.003080	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849630	224849630	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:224849630G>A	ENST00000409840.3	-	6	1383	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SERPINE2_ENST00000258405.4_Silent_p.F241F|SERPINE2_ENST00000447280.2_Silent_p.F253F|SERPINE2_ENST00000409304.1_Silent_p.F241F			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	241					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGTTCAATGAAGTTGTACC	0.498000													15	8					0	0	0.004990	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129658533	129658533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:129658533G>A	ENST00000358303.4	-	10	1564	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	RP11-306G20.1_ENST00000587038.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R451W|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R473W|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R423W	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	494					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	p.R494W(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCCCACTGCCGAAATATTCGG	0.398000													89	87					0	0	0.003610	0	0
ITIH4	3700	broad.mit.edu	37	3	52848316	52848316	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52848316G>A	ENST00000266041.4	-	22	2631	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	ITIH4_ENST00000406595.1_Silent_p.I815I|ITIH4_ENST00000485816.1_Silent_p.I850I|ITIH4_ENST00000346281.5_Silent_p.I829I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	845					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAACAGGCCGATGGTCACTT	0.592000													45	99					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90041410	90041410	+	Missense_Mutation	SNP	C	C	T	rs75732872		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:90041410C>T	ENST00000405460.2	+	52	10868	c.10772C>T	c.(10771-10773)tCa>tTa	p.S3591L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3591	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATGGTAGTTCAGGTGAACTG	0.308000													12	11					0	0	0.000978	0	0
TMC5	79838	broad.mit.edu	37	16	19452047	19452047	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:19452047G>A	ENST00000396229.2	+	3	1436	c.687G>A	c.(685-687)gaG>gaA	p.E229E	TMC5_ENST00000381414.4_Silent_p.E229E|TMC5_ENST00000542583.2_Silent_p.E229E|TMC5_ENST00000541464.1_Silent_p.E229E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	229						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGTGCTGAGGACAATCAGA	0.488000													17	15					0	0	0.001216	0	0
POLK	51426	broad.mit.edu	37	5	74865163	74865163	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:74865163A>G	ENST00000241436.4	+	4	427		c.e4-1		POLK_ENST00000352007.5_Splice_Site|POLK_ENST00000506928.1_Splice_Site|POLK_ENST00000508526.1_Splice_Site|POLK_ENST00000380481.3_Splice_Site|POLK_ENST00000504026.1_Splice_Site|POLK_ENST00000515295.1_Splice_Site	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa						DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAAAAAATTAAGGTTGACAGA	0.313000								DNA polymerases (catalytic subunits)					4	2					0	0	0.000248	0	0
WIPF2	147179	broad.mit.edu	37	17	38420864	38420864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38420864C>T	ENST00000323571.4	+	5	676	c.436C>T	c.(436-438)Cca>Tca	p.P146S	WIPF2_ENST00000583130.1_Missense_Mutation_p.P146S|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P146S	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	146						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGCCTCACTCCCAGAACTGCC	0.632000										HNSCC(43;0.11)			61	56					0	0	0.003610	0	0
OR52E2	119678	broad.mit.edu	37	11	5079937	5079937	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5079937T>A	ENST00000321522.2	-	1	920	c.921A>T	c.(919-921)atA>atT	p.I307I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTGCAATAATATTTTCTTCA	0.363000													6	16					0	0	0.001168	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98643254	98643254	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:98643254A>T	ENST00000288985.7	+	2	488	c.183A>T	c.(181-183)tcA>tcT	p.S61S	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	61					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATGGCAAGTCATTTGCAGTCG	0.363000													48	26					0	0	0.003214	0	0
DHX29	54505	broad.mit.edu	37	5	54557221	54557221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:54557221G>A	ENST00000251636.5	-	25	4083	c.3935C>T	c.(3934-3936)tCt>tTt	p.S1312F	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1312							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCCATCAATAGAAAGAAGACG	0.333000													10	19					0	0	0.002450	0	0
GPR133	283383	broad.mit.edu	37	12	131476909	131476909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:131476909C>T	ENST00000261654.5	+	8	1497	c.938C>T	c.(937-939)tCg>tTg	p.S313L	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S345L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTCCCTCTCGGAGCAGACA	0.493000													47	87					0	0	0.003610	0	0
RIMS2	9699	broad.mit.edu	37	8	105001563	105001563	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:105001563C>T	ENST00000507740.1	+	14	2570	c.2334C>T	c.(2332-2334)acC>acT	p.T778T	RIMS2_ENST00000406091.3_Silent_p.T986T|RIMS2_ENST00000262231.10_Silent_p.T825T|RIMS2_ENST00000436393.2_Silent_p.T764T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1048					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)			TTCGAGGGACCCGCACTATGA	0.378000										HNSCC(12;0.0054)			21	80					0	0	0.002299	0	0
HJURP	55355	broad.mit.edu	37	2	234754447	234754447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234754447G>A	ENST00000411486.2	-	6	487	c.422C>T	c.(421-423)cCt>cTt	p.P141L	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Missense_Mutation_p.P87L	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	141					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ATTTTTCAAAGGGCTTTGAGG	0.393000													42	87					0	0	0.003610	0	0
COL9A2	1298	broad.mit.edu	37	1	40767049	40767049	+	Silent	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:40767049G>T	ENST00000372748.3	-	32	1971	c.1875C>A	c.(1873-1875)ctC>ctA	p.L625L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	625	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCCGGCCAGGGAGTCCTGTGA	0.592000													18	25					6.49762e-13	1.30927e-12	0.006122	1	0
IGKJ4	28947	broad.mit.edu	37	2	89160426	89160426	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:89160426G>A	ENST00000452230.1	-	0	39				IGKJ4_ENST00000390239.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TCCCTCCGCCGAAAGTGAGCC	0.418000													39	114					0	0	0.002222	0	0
CR1	1378	broad.mit.edu	37	1	207700172	207700172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:207700172G>A	ENST00000367049.4	+	6	961	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CR1_ENST00000367050.4_Intron|CR1_ENST00000367051.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.E321K|CR1_ENST00000367053.1_Missense_Mutation_p.E321K|CR1_ENST00000367052.1_Missense_Mutation_p.E321K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	321	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTGGGCAGGAAGTGTTCTA	0.582000													23	87					0	0	0.006320	0	0
PCDH10	57575	broad.mit.edu	37	4	134084268	134084268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:134084268G>A	ENST00000264360.4	+	4	3760	c.2934G>A	c.(2932-2934)atG>atA	p.M978I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	978					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCCTGGCATGGACTCTGTTC	0.547000													22	17					0	0	0.002299	0	0
TRIM42	287015	broad.mit.edu	37	3	140406823	140406823	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:140406823C>T	ENST00000286349.3	+	3	1490	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	433						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCAAGGAAGCCCTGAAGGAGA	0.517000													11	8					0	0	0.001368	0	0
STAB2	55576	broad.mit.edu	37	12	104089423	104089423	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:104089423C>T	ENST00000388887.2	+	32	3675	c.3471C>T	c.(3469-3471)atC>atT	p.I1157I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1157	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGGCTACATCATTGCAAGTA	0.502000													40	30					0	0	0.001951	0	0
LMOD2	442721	broad.mit.edu	37	7	123302465	123302465	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:123302465C>T	ENST00000458573.2	+	2	982	c.825C>T	c.(823-825)gtC>gtT	p.V275V	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	275						cytoskeleton	actin binding|tropomyosin binding										ACGTAAACGTCGAGTCCAACT	0.537000													11	11					0	0	0.000673	0	0
KLK6	5653	broad.mit.edu	37	19	51462453	51462453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51462453C>T	ENST00000376853.4	-	3	327	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	KLK6_ENST00000391808.1_Silent_p.T127T|KLK6_ENST00000456750.2_Silent_p.T127T|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Silent_p.T234T|KLK6_ENST00000376851.3_Silent_p.T234T|KLK6_ENST00000594641.1_Silent_p.T234T			Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	0	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGATCCAGTTCGTGTATCTGC	0.537000													66	57					0	0	0.003610	0	0
MICALCL	84953	broad.mit.edu	37	11	12379943	12379943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:12379943G>A	ENST00000256186.2	+	9	2296	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	669					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCCTTAGAGGAACAACGCAT	0.493000													56	25					0	0	0.003610	0	0
DPYSL3	1809	broad.mit.edu	37	5	146778664	146778664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:146778664G>A	ENST00000343218.5	-	11	1801	c.1604C>T	c.(1603-1605)tCt>tTt	p.S535F	DPYSL3_ENST00000398514.3_Missense_Mutation_p.S421F|DPYSL3_ENST00000534907.1_Missense_Mutation_p.S47F	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	421					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTTGGCAGAGACGATCTT	0.512000													27	91					0	0	0.003954	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453536	143453536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143453536C>T	ENST00000470691.2	-	1	1253	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					CGGTAATTTTCCTCCACTGTT	0.368000													31	226					0	0	0.001512	0	0
PRCC	5546	broad.mit.edu	37	1	156761537	156761537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156761537C>T	ENST00000271526.4	+	4	1404	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	378					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCTGGTCCCCCCCCAGGA	0.522000			T	TFE3	papillary renal								32	31					0	0	0.003755	0	0
ZNF99	7652	broad.mit.edu	37	19	22940838	22940838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:22940838C>T	ENST00000397104.3	-	5	1599	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E625K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.378000													8	7					0	0	0.004482	0	0
SP6	80320	broad.mit.edu	37	17	45924778	45924778	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:45924778T>C	ENST00000536300.1	-	2	1349	c.1018A>G	c.(1018-1020)Aag>Gag	p.K340E	SP6_ENST00000342234.2_Missense_Mutation_p.K340E	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GCCTCCTCCTTGGCGCCCTCG	0.706000													14	30					0	0	0.002450	0	0
ADCY10	55811	broad.mit.edu	37	1	167825450	167825450	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:167825450C>T	ENST00000367848.1	-	17	2345	c.1848G>A	c.(1846-1848)aaG>aaA	p.K616K	ADCY10_ENST00000545172.1_Silent_p.K555K|ADCY10_ENST00000367851.4_Silent_p.K708K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	708					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAAGACAGATCTTGTTGGAGA	0.468000													57	58					0	0	0.003610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509532	149509532	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:149509532C>T	ENST00000261799.4	-	10	1837		c.e10-1			NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTGGACACCTGCCAGGAGA	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	57					0	0	0.007291	0	0
HSPA4	3308	broad.mit.edu	37	5	132412462	132412462	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:132412462C>T	ENST00000304858.2	+	7	1069	c.780C>T	c.(778-780)atC>atT	p.I260I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	260					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCCAAAATCCGTGCATTAT	0.368000													25	18					0	0	0.007291	0	0
IPCEF1	26034	broad.mit.edu	37	6	154587080	154587080	+	Translation_Start_Site	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:154587080A>C	ENST00000265198.4	-	3	157	c.2T>G	c.(1-3)aTg>aGg	p.M1R	IPCEF1_ENST00000422970.2_Start_Codon_SNP_p.M1R|IPCEF1_ENST00000367220.4_Start_Codon_SNP_p.M1R	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GTATGATGTCATCTTAGTAGA	0.328000													75	104					0	0	0.003610	0	0
PEAK1	79834	broad.mit.edu	37	15	77473107	77473107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:77473107C>T	ENST00000560626.2	-	4	1637	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E388K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E388K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	388	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GAGGGACTTTCATAATTGGGC	0.418000													6	20					0	0	0.001168	0	0
PLS3	5358	broad.mit.edu	37	X	114877744	114877744	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:114877744C>T	ENST00000420625.2	+	10	1241	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PLS3_ENST00000543070.1_Intron|PLS3_ENST00000539310.1_Silent_p.F324F|PLS3_ENST00000537301.1_Silent_p.F356F|PLS3_ENST00000355899.3_Silent_p.F369F|PLS3_ENST00000289290.3_Silent_p.F333F	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	369	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACTTAGCTTTCGTGGCTAACC	0.408000													20	16					0	0	0.001882	0	0
CNRIP1	25927	broad.mit.edu	37	2	68546484	68546484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:68546484G>A	ENST00000263655.3	-	1	654	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q17*|CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q17*|CNRIP1_ENST00000481714.1_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	17							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCATTAGGCTGGATGCGCAGC	0.692000													4	15					0	0	0.000602	0	0
EP300	2033	broad.mit.edu	37	22	41573662	41573662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:41573662G>A	ENST00000263253.7	+	31	7166	c.5947G>A	c.(5947-5949)Ggg>Agg	p.G1983R	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1983					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTGGAGCCAGGGATGGGACC	0.607000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				26	74					0	0	0.005443	0	0
WNK3	65267	broad.mit.edu	37	X	54337640	54337640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:54337640G>A	ENST00000354646.2	-	3	1060	c.622C>T	c.(622-624)Cga>Tga	p.R208*	WNK3_ENST00000375159.2_Nonsense_Mutation_p.R208*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.R208*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	208	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCATAAAATCGAACTATATTG	0.388000													9	17					0	0	0.004482	0	0
GABRB3	2562	broad.mit.edu	37	15	26828491	26828491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:26828491C>T	ENST00000541819.2	-	6	802	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GABRB3_ENST00000299267.4_Missense_Mutation_p.E178K|GABRB3_ENST00000400188.3_Missense_Mutation_p.E107K|GABRB3_ENST00000311550.5_Missense_Mutation_p.E178K|GABRB3_ENST00000545868.1_Missense_Mutation_p.E93K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	178					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTTCAATTTCCAGAGTGCAG	0.428000													11	30					0	0	0.001368	0	0
XAGE5	170627	broad.mit.edu	37	X	52842237	52842237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:52842237G>A	ENST00000375503.3	+	2	509	c.146G>A	c.(145-147)aGa>aAa	p.R49K	XAGE5_ENST00000351072.1_Missense_Mutation_p.R49K|XAGE5_ENST00000425386.1_Missense_Mutation_p.R49K|XAGE5_ENST00000375501.1_Missense_Mutation_p.R49K			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	49										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGTCAGAAGAGAGAAGATGAT	0.552000													12	46					0	0	0.003163	0	0
GK2	2712	broad.mit.edu	37	4	80328291	80328291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:80328291G>A	ENST00000358842.3	-	1	1081	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	355					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.S355F(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGCCATAAGAAGTTCCTAC	0.438000													37	34					0	0	0.003755	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377154	125377154	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125377154C>T	ENST00000297913.2	+	1	207	c.138C>T	c.(136-138)atC>atT	p.I46I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGGCCATCATCACACTGATTC	0.498000													22	49					0	0	0.002299	0	0
LCK	3932	broad.mit.edu	37	1	32742380	32742380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32742380G>A	ENST00000333070.4	+	9	1057	c.957G>A	c.(955-957)atG>atA	p.M319I	LCK_ENST00000336890.5_Missense_Mutation_p.M319I|LCK_ENST00000373564.3_Missense_Mutation_p.M326I	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	319	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGAATACATGGAGAATGGTG	0.577000			T	TRB@	T-ALL								14	0					0	0	0.002450	0	0
PLCE1	51196	broad.mit.edu	37	10	96058176	96058176	+	Silent	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96058176T>G	ENST00000260766.3	+	24	5842	c.5208T>G	c.(5206-5208)tcT>tcG	p.S1736S	PLCE1_ENST00000371385.3_Silent_p.S1428S|PLCE1_ENST00000371375.1_Silent_p.S1428S|PLCE1_ENST00000371380.2_Silent_p.S1736S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1736	PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGAATCTTCTTCCCCTCTCA	0.443000													9	9					0	0	0.000978	0	0
DIEXF	27042	broad.mit.edu	37	1	210014267	210014267	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:210014267C>A	ENST00000491415.2	+	8	1409	c.1352C>A	c.(1351-1353)tCc>tAc	p.S451Y		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTCATTGCTTCCCCCCTGGGC	0.468000													18	24					0.000132079	0.000264387	0.001216	1	0
CNTNAP2	26047	broad.mit.edu	37	7	148112666	148112666	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:148112666C>T	ENST00000361727.3	+	24	4470	c.3954C>T	c.(3952-3954)ttC>ttT	p.F1318F	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.F377F	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1318					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCCCAACTTCACAGAGACCA	0.542000										HNSCC(39;0.1)			33	38					0	0	0.006230	0	0
KRT25	147183	broad.mit.edu	37	17	38907519	38907519	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38907519G>A	ENST00000312150.4	-	4	789	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	243	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCACCCCGGGGGCTGCGTTCA	0.572000													10	17					0	0	0.006214	0	0
RIPK4	54101	broad.mit.edu	37	21	43161697	43161697	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43161697G>A	ENST00000352483.2	-	9	1864	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	RIPK4_ENST00000332512.3_Silent_p.I552I|RIPK4_ENST00000544709.1_Silent_p.I489I|RIPK4_ENST00000542057.1_Silent_p.I489I			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	552						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGATGCGCACGATATTCTCCT	0.667000													34	26					0	0	0.002836	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602369	48602369	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48602369G>A	ENST00000323776.5	+	13	2058	c.1896G>A	c.(1894-1896)cgG>cgA	p.R632R	MYCBPAP_ENST00000436259.2_Silent_p.R595R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	595					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACTTGTTCCGGCACAGAAATC	0.652000													30	70					0	0	0.002836	0	0
EDA	1896	broad.mit.edu	37	X	68836180	68836180	+	Missense_Mutation	SNP	G	G	A	rs41539891		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:68836180G>A	ENST00000374552.4	+	1	270	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	EDA_ENST00000527388.1_Missense_Mutation_p.E10K|EDA_ENST00000525810.1_Missense_Mutation_p.E10K|EDA_ENST00000338901.3_Missense_Mutation_p.E10K|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.E10K|EDA_ENST00000524573.1_Missense_Mutation_p.E10K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	10					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GGAGCGCAGGGAACTCCTGCC	0.721000													6	24					0	0	0.001168	0	0
AAR2	25980	broad.mit.edu	37	20	34843623	34843623	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34843623G>T	ENST00000373932.3	+	4	1457	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Missense_Mutation_p.A371S	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		TGAGGACTGTGCCCCGGTGGT	0.617000													35	54					2.59497e-14	5.23435e-14	0.007835	1	0
EIF3A	8661	broad.mit.edu	37	10	120818837	120818837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:120818837G>A	ENST00000369144.3	-	11	1643	c.1516C>T	c.(1516-1518)Ccg>Tcg	p.P506S	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P472S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	506					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GGACCAATCGGAGCATCTTCT	0.403000													29	3					0	0	0.006320	0	0
FBXL7	23194	broad.mit.edu	37	5	15936637	15936637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:15936637C>T	ENST00000504595.1	+	4	1299	c.818C>T	c.(817-819)tCc>tTc	p.S273F	FBXL7_ENST00000510662.1_Missense_Mutation_p.S226F|FBXL7_ENST00000329673.7_Missense_Mutation_p.S261F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	273					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAACAGATTTCCATCCGCTAC	0.577000													15	37					0	0	0.003163	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280060	32280060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32280060C>T	ENST00000360482.2	-	2	1004	c.875G>A	c.(874-876)gGg>gAg	p.G292E	SPOCD1_ENST00000373648.2_Missense_Mutation_p.G292E|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G292E|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	292					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGGCCCATCCCCTGTAGCGGG	0.632000													8	12					0	0	0.004482	0	0
BARX2	8538	broad.mit.edu	37	11	129321073	129321073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:129321073C>T	ENST00000281437.4	+	4	712	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	BARX2_ENST00000531946.1_Missense_Mutation_p.R84C|BARX2_ENST00000526127.1_Missense_Mutation_p.R61C	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	206										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACCCAAAGGTCGCCCCAAGAA	0.483000													11	25					0	0	0.000673	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411153	32411153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:32411153C>T	ENST00000395388.2	+	3	629	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.H149Y	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	174	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCGCAAGTTCCACTATCTCCC	0.547000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				13	20					0	0	0.002450	0	0
MICALCL	84953	broad.mit.edu	37	11	12315568	12315568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:12315568C>T	ENST00000256186.2	+	3	881	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	197					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGAATGACTCCATCCCTGAG	0.532000													62	42					0	0	0.003610	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628753	41628753	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:41628753C>T	ENST00000331105.2	+	7	921	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	283					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGAGCCACTTCCACATGGATA	0.572000													15	46					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179666956	179666956	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179666956G>A	ENST00000589042.1	-	3	428	c.204C>T	c.(202-204)ccC>ccT	p.P68P	TTN_ENST00000591111.1_Silent_p.P68P|TTN_ENST00000342992.6_Silent_p.P68P|TTN_ENST00000359218.5_Silent_p.P68P|TTN_ENST00000360870.5_Silent_p.P68P|TTN_ENST00000460472.2_Silent_p.P68P|TTN_ENST00000342175.6_Silent_p.P68P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	68	Ig-like 1.						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)			TAGTCACGGCGGGGATCGTCA	0.552000													18	42					0	0	0.001523	0	0
TBC1D21	161514	broad.mit.edu	37	15	74177174	74177174	+	Silent	SNP	C	C	T	rs141524942	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74177174C>T	ENST00000300504.2	+	5	503	c.420C>T	c.(418-420)atC>atT	p.I140I	TBC1D21_ENST00000535547.2_Silent_p.I104I|TBC1D21_ENST00000562056.1_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	140	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACGTCCTCATCGACAAGAAGA	0.547000													18	19					0	0	0.004656	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712731	94712731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94712731C>T	ENST00000304338.3	+	14	1620	c.1466C>T	c.(1465-1467)gCt>gTt	p.A489V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	489						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCACTCACAGCTGCTGAACAG	0.398000													11	51					0	0	0.000673	0	0
ADAM28	10863	broad.mit.edu	37	8	24201063	24201063	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:24201063C>T	ENST00000265769.4	+	18	2066	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.I399I|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	652	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGATGGATCCCTCCCGACT	0.488000													4	23					0	0	0.001168	0	0
HIRA	7290	broad.mit.edu	37	22	19349263	19349263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:19349263G>A	ENST00000263208.5	-	16	2223	c.1967C>T	c.(1966-1968)tCt>tTt	p.S656F	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.S612F|HIRA_ENST00000546308.1_Missense_Mutation_p.S612F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	656	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACAGACAGAGACACAGGCAT	0.542000													33	238					0	0	0.003755	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309716	153309716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153309716G>A	ENST00000368739.3	-	8	1230	c.872C>T	c.(871-873)tCc>tTc	p.S291F	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S295F			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	295					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGTGGAGGAGCCTTGGAC	0.542000													9	11					0	0	0.004482	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545731	234545731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234545731C>T	ENST00000344644.5	+	1	632	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A10_ENST00000373445.1_Missense_Mutation_p.S188F|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTCCTCTTTCCTATGTCCCC	0.463000													14	20					0	0	0.004007	0	0
OR1S1	219959	broad.mit.edu	37	11	57982808	57982808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57982808C>T	ENST00000309433.6	+	1	592	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGCCCCTCTGCTCAAACTGTC	0.418000													45	8					0	0	0.003610	0	0
CARS	833	broad.mit.edu	37	11	3047965	3047965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3047965G>A	ENST00000397114.3	-	10	1191	c.815C>T	c.(814-816)tCc>tTc	p.S272F	CARS_ENST00000397111.5_Missense_Mutation_p.S282F|CARS_ENST00000401769.3_Missense_Mutation_p.S295F|CARS_ENST00000278224.9_Missense_Mutation_p.S282F|CARS_ENST00000380525.4_Missense_Mutation_p.S365F			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	282					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCCATAGGAGTGCTTCTC	0.522000			T	ALK	ALCL								99	60					0	0	0.003610	0	0
CD86	942	broad.mit.edu	37	3	121810455	121810455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:121810455G>A	ENST00000330540.2	+	2	138	c.22G>A	c.(22-24)Gga>Aga	p.G8R	CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.G2R|CD86_ENST00000493101.1_Missense_Mutation_p.G8R|CD86_ENST00000469710.1_Intron|CD86_ENST00000264468.5_Missense_Mutation_p.G8R	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	8					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAGCACTATGGGACTGAGTAA	0.423000													15	48					0	0	0.003163	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275631	32275631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32275631C>T	ENST00000400246.1	+	38	4068	c.3926C>T	c.(3925-3927)cCt>cTt	p.P1309L	DEPDC5_ENST00000382105.2_Silent_p.L1195L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P1300L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P1309L|DEPDC5_ENST00000539165.1_Missense_Mutation_p.P126L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P1287L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P1209L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P1278L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P1278L			O75140	DEPD5_HUMAN	DEP domain containing 5	1278					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTGAGATTCCTGCCTTTCTC	0.602000													16	72					0	0	0.004007	0	0
TRIP11	9321	broad.mit.edu	37	14	92471348	92471348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:92471348G>A	ENST00000267622.4	-	11	3345	c.2972C>T	c.(2971-2973)tCt>tTt	p.S991F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	991					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAAATATCAGAGTTATCTGT	0.313000			T	PDGFRB	AML								16	47					0	0	0.006122	0	0
SAFB	6294	broad.mit.edu	37	19	5653265	5653265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:5653265C>T	ENST00000292123.5	+	10	1540	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	SAFB_ENST00000433404.1_Missense_Mutation_p.S308F|SAFB_ENST00000538656.1_Missense_Mutation_p.S321F|SAFB_ENST00000588852.1_Missense_Mutation_p.S478F|SAFB_ENST00000454510.1_Missense_Mutation_p.S409F|SAFB_ENST00000592224.1_Missense_Mutation_p.S478F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	478	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAGATGATCTCCGTGGAGAAA	0.478000													44	43					0	0	0.003214	0	0
NOS1	4842	broad.mit.edu	37	12	117660559	117660559	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:117660559C>T	ENST00000317775.6	-	26	4621	c.3936G>A	c.(3934-3936)gaG>gaA	p.E1312E	NOS1_ENST00000338101.4_Silent_p.E1346E|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1312					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCGTGTACAGCTCTCTGAAGA	0.577000													32	87					0	0	0.003755	0	0
TMEM246	84302	broad.mit.edu	37	9	104238337	104238337	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:104238337C>T	ENST00000374851.1	-	4	2185	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Silent_p.R346R|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Silent_p.R346R|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	346						integral to membrane											AGGTGAGGGTCCGGCGGGCCG	0.617000													8	29					0	0	0.006214	0	0
AIFM3	150209	broad.mit.edu	37	22	21327711	21327711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21327711C>T	ENST00000335375.5	+	3	328	c.221C>T	c.(220-222)tCc>tTc	p.S74F	AIFM3_ENST00000333607.6_Silent_p.F49F|AIFM3_ENST00000440238.2_Silent_p.F49F|AIFM3_ENST00000399163.2_Silent_p.F49F|AIFM3_ENST00000405089.1_Silent_p.F55F|AIFM3_ENST00000399167.2_Silent_p.F49F					apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCCACTTCCACACGGAGG	0.672000													18	19					0	0	0.001216	0	0
KDM3B	51780	broad.mit.edu	37	5	137722017	137722017	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:137722017A>C	ENST00000314358.5	+	7	1287	c.1087A>C	c.(1087-1089)Aac>Cac	p.N363H	KDM3B_ENST00000394866.1_Missense_Mutation_p.N19H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	363					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CACCAAAGAAAACGGCAGGAC	0.547000													56	132					0	0	0.003610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351091	89351091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89351091G>A	ENST00000301030.4	-	9	2319	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P620L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	620						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCCAGTTTGGGGACAGCGCC	0.527000													25	66					0	0	0.002780	0	0
RAB39B	116442	broad.mit.edu	37	X	154493499	154493499	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:154493499G>A	ENST00000369454.3	-	1	375	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	25					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAAGCGGCGGATCAGGCAGG	0.607000													75	62					0	0	0.003610	0	0
KLRG1	10219	broad.mit.edu	37	12	9162098	9162098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:9162098C>T	ENST00000266551.4	+	5	550	c.535C>T	c.(535-537)Cct>Tct	p.P179S	KLRG1_ENST00000356986.3_Missense_Mutation_p.P179S|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	179	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGTGAAGTTCCTTTACACTG	0.443000													6	11					0	0	0.001168	0	0
TREML2	79865	broad.mit.edu	37	6	41165918	41165918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:41165918C>T	ENST00000483722.1	-	2	490	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	102	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACCAGTATCGGCCTGAGTC	0.617000													29	31					0	0	0.005443	0	0
TMEM173	340061	broad.mit.edu	37	5	138860759	138860759	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:138860759G>A	ENST00000330794.4	-	4	729	c.396C>T	c.(394-396)atC>atT	p.I132I	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	132					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	p.L133F(1)|p.I132I(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCCAGGAGGATGTTCAGTG	0.602000													28	66					0	0	0.006320	0	0
STARD3	10948	broad.mit.edu	37	17	37818594	37818594	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37818594C>T	ENST00000336308.5	+	14	1448	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	STARD3_ENST00000394250.4_Silent_p.L392L|STARD3_ENST00000580611.1_Silent_p.L384L|STARD3_ENST00000544210.2_Silent_p.L410L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	410	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATACAGATCTCAAGGTGGGGT	0.582000													11	20					0	0	0.001368	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503404	140503404	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140503404C>T	ENST00000194152.1	+	1	1824	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		608	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCAAGGCCACGGAGCCTG	0.716000													32	103					0	0	0.003271	0	0
SERF2	10169	broad.mit.edu	37	15	44092774	44092774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:44092774G>A	ENST00000594896.1	+	3	231	c.116G>A	c.(115-117)gGa>gAa	p.G39E	HYPK_ENST00000442995.2_5'UTR|SERF2_ENST00000600633.1_5'UTR|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000406925.1_5'UTR			P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCAGTTGCCGGAAGTCGGCGT	0.627000													10	24					0	0	0.006214	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801250	135801250	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:135801250A>G	ENST00000264977.3	+	8	3392	c.2775A>G	c.(2773-2775)cgA>cgG	p.R925R	PPP2R3A_ENST00000334546.2_Silent_p.R304R|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Silent_p.R189R	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	925					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGTCTCGATACAATGACC	0.358000													17	33					0	0	0.003330	0	0
ZNF696	79943	broad.mit.edu	37	8	144378029	144378029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:144378029G>A	ENST00000330143.3	+	3	593	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGGCCACAGAGGGGGGCCTCC	0.697000													8	16					0	0	0.003080	0	0
TLX1	3195	broad.mit.edu	37	10	102896665	102896665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:102896665G>A	ENST00000370196.6	+	3	3030	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	330						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTCGGCCTGCGAGTGAGCCTG	0.647000			T	"""TRB@, TRD@"""	T-ALL								13	18					0	0	0.001368	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689570	33689570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:33689570G>A	ENST00000269187.5	-	10	2467	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R752C	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	752						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAATTTATACGAAACACGATT	0.343000													24	65					0	0	0.002780	0	0
DIP2A	23181	broad.mit.edu	37	21	47978182	47978182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47978182C>T	ENST00000318711.7	+	32	4031	c.3848C>T	c.(3847-3849)gCc>gTc	p.A1283V	DIP2A_ENST00000417564.2_Missense_Mutation_p.A1282V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A1278V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1282					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATGGTGGTCGCCGAGGAGCGG	0.667000													17	30					0	0	0.007413	0	0
SLC12A2	6558	broad.mit.edu	37	5	127471439	127471439	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:127471439C>T	ENST00000262461.2	+	7	1536	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	SLC12A2_ENST00000343225.4_Silent_p.F449F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	449					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.F449F(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGGTGATTTCGTCATAGGAA	0.308000													23	86					0	0	0.005443	0	0
TPTE2	93492	broad.mit.edu	37	13	20048178	20048178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:20048178G>A	ENST00000400230.2	-	6	312	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L53F|TPTE2_ENST00000382977.4_Missense_Mutation_p.L90F|TPTE2_ENST00000255310.6_Missense_Mutation_p.L53F|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.L90F|TPTE2_ENST00000382975.4_Missense_Mutation_p.L90F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	90						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCAAGGAGGAGAGTGACATCC	0.303000													12	26					0	0	0.001368	0	0
ARID5B	84159	broad.mit.edu	37	10	63851009	63851009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:63851009C>T	ENST00000279873.7	+	10	2197	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P353L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	596					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCATCCTTCCCCAGCTTCCCC	0.537000													13	1					0	0	0.001368	0	0
OR7E24	26648	broad.mit.edu	37	19	9362536	9362536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9362536G>A	ENST00000456448.1	+	1	931	c.817G>A	c.(817-819)Ggg>Agg	p.G273R		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTATGGAACAGGGCTTGTAGG	0.498000													10	25					0	0	0.001368	0	0
MYH8	4626	broad.mit.edu	37	17	10317725	10317725	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10317725G>A	ENST00000403437.2	-	10	976	c.882C>T	c.(880-882)tcC>tcT	p.S294S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	294	Myosin head-like.				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						GCTTCTTATTGGAAGTGATCT	0.323000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	10					0	0	0.006214	0	0
OR3A2	4995	broad.mit.edu	37	17	3181518	3181518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3181518G>A	ENST00000408891.2	-	1	750	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	238					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R238C(1)		ovary(1)	1						TCCACTGAACGGATTCGTAGA	0.522000													10	30					0	0	0.000978	0	0
BMP5	653	broad.mit.edu	37	6	55739218	55739218	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55739218T>C	ENST00000370830.3	-	1	1144	c.446A>G	c.(445-447)aAc>aGc	p.N149S	BMP5_ENST00000446683.2_Missense_Mutation_p.N149S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	149					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCAGAAAGTTGGTATCATG	0.448000													4	5					0	0	0.000602	0	0
TFCP2	7024	broad.mit.edu	37	12	51511477	51511477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:51511477C>T	ENST00000307660.4	-	3	1048	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	TFCP2_ENST00000549867.1_Missense_Mutation_p.E110K|TFCP2_ENST00000548115.1_Missense_Mutation_p.E110K|TFCP2_ENST00000257915.5_Missense_Mutation_p.E110K	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	110					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CCATTAATTTCTGGAAGTTCT	0.279000													20	36					0	0	0.003954	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840444	47840444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:47840444G>A	ENST00000289672.2	-	54	8046	c.7996C>T	c.(7996-7998)Cac>Tac	p.H2666Y	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2666					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGGTGCAGGTGGGAGAGGGCG	0.542000													12	27					0	0	0.000978	0	0
WASL	8976	broad.mit.edu	37	7	123334870	123334870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:123334870G>A	ENST00000223023.4	-	8	1057	c.725C>T	c.(724-726)tCa>tTa	p.S242L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	242				S -> L (in Ref. 1; BAA20128).	actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGTGCCTCTGAGATTCCACA	0.318000													82	410					0	0	0.003610	0	0
URGCP	55665	broad.mit.edu	37	7	43918515	43918515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:43918515G>A	ENST00000336086.6	-	4	2654	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.P140S|URGCP_ENST00000453200.1_Missense_Mutation_p.P183S|URGCP_ENST00000447717.3_Missense_Mutation_p.P140S|URGCP_ENST00000402306.3_Missense_Mutation_p.P174S|URGCP_ENST00000443736.1_Missense_Mutation_p.P140S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	183					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTCTAAGGGGTTCACTGGC	0.527000													29	67					0	0	0.007291	0	0
SCN5A	6331	broad.mit.edu	37	3	38592826	38592826	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38592826G>A	ENST00000413689.1	-	28	5230	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	SCN5A_ENST00000451551.2_Silent_p.F1625F|SCN5A_ENST00000450102.2_Silent_p.F1625F|SCN5A_ENST00000449557.2_Silent_p.F1625F|SCN5A_ENST00000333535.4_Silent_p.F1679F|SCN5A_ENST00000443581.1_Silent_p.F1678F|SCN5A_ENST00000425664.1_Silent_p.F1661F|SCN5A_ENST00000423572.2_Silent_p.F1678F|SCN5A_ENST00000414099.2_Silent_p.F1661F|SCN5A_ENST00000455624.2_Silent_p.F1646F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1679					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.F1679F(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGACATAAGCGAAGTTGGCCA	0.552000													109	73					0	0	0.003610	0	0
TEX13A	56157	broad.mit.edu	37	X	104464309	104464309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:104464309C>T	ENST00000372578.3	-	3	680	c.569G>A	c.(568-570)gGa>gAa	p.G190E	TEX13A_ENST00000413579.1_Missense_Mutation_p.G190E|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G190E|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	190						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCTCCTTTTCCTCCAGCAGC	0.657000													9	24					0	0	0.006214	0	0
AVIL	10677	broad.mit.edu	37	12	58204325	58204325	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58204325G>A	ENST00000537081.1	-	6	546	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	AVIL_ENST00000257861.3_Silent_p.L190L			O75366	AVIL_HUMAN	advillin	190	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCTTTGCCAGAAGCATAGCC	0.562000													21	49					0	0	0.002299	0	0
SOGA3	387104	broad.mit.edu	37	6	127796793	127796793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:127796793G>A	ENST00000556132.1	-	6	3242	c.2378C>T	c.(2377-2379)aCg>aTg	p.T793M	SOGA3_ENST00000525778.1_Missense_Mutation_p.T793M|SOGA3_ENST00000465909.2_Missense_Mutation_p.T793M|SOGA3_ENST00000481848.2_Missense_Mutation_p.T793M|SOGA3_ENST00000368268.2_Missense_Mutation_p.T793M|SOGA3_ENST00000474293.2_5'UTR	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	793						integral to membrane											GCGAGTGGGCGTGAGGCAGCG	0.706000													5	41					0	0	0.000602	0	0
OR8A1	390275	broad.mit.edu	37	11	124440236	124440236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124440236C>T	ENST00000284287.3	+	1	344	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTCTGCTACTCCTCCGTCATT	0.468000													8	24					0	0	0.006214	0	0
OR2T33	391195	broad.mit.edu	37	1	248436624	248436624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248436624G>A	ENST00000318021.2	-	1	514	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	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)			CCACAATATGGGAAGCTCAGG	0.562000													12	60					0	0	0.001855	0	0
AHSG	197	broad.mit.edu	37	3	186338420	186338420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186338420C>T	ENST00000411641.2	+	7	1024	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	AHSG_ENST00000273784.5_Missense_Mutation_p.P270S			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	269					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.P269T(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGAAGCAGTCCCCACACCCGT	0.597000													47	95					0	0	0.003610	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692098	106692098	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106692098G>A	ENST00000390607.2	-	0	105																											TAGCAACAAGGAAAACCCAGC	0.483000													38	165					0	0	0.002522	0	0
GPR179	440435	broad.mit.edu	37	17	36483549	36483549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:36483549G>A	ENST00000342292.4	-	11	5923	c.5903C>T	c.(5902-5904)tCc>tTc	p.S1968F	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1968						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W1960fs*10(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTGAGAGACGGAATCTGCTGG	0.562000													14	30					0	0	0.003163	0	0
TMC1	117531	broad.mit.edu	37	9	75404183	75404183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:75404183G>A	ENST00000297784.5	+	15	1714	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TMC1_ENST00000396237.3_Missense_Mutation_p.E392K|TMC1_ENST00000340019.3_Missense_Mutation_p.E392K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	392					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						GCGATCCCAGGAATTTGCACA	0.448000													26	42					0	0	0.002096	0	0
KRT15	3866	broad.mit.edu	37	17	39673111	39673111	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39673111C>T	ENST00000254043.3	-	3	4272	c.687G>A	c.(685-687)caG>caA	p.Q229Q	KRT15_ENST00000393974.3_Silent_p.Q64Q|KRT15_ENST00000393981.3_Silent_p.Q64Q|KRT15_ENST00000393976.2_Silent_p.Q229Q	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	229	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGCCCTCGATCTGCATCTCCA	0.612000													25	65					0	0	0.005443	0	0
DNAH1	25981	broad.mit.edu	37	3	52383328	52383328	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52383328C>T	ENST00000420323.2	+	14	2679	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	806	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGGGCCTTTCTACATCAACA	0.587000													19	53					0	0	0.001216	0	0
KANSL3	55683	broad.mit.edu	37	2	97268003	97268003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:97268003G>A	ENST00000599854.1	-	19	2538	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	KANSL3_ENST00000431828.1_Missense_Mutation_p.R778C|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.R598C	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	804																	GGAATGGTACGGACAATGGTG	0.622000													10	9					0	0	0.000673	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406505	148406505	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:148406505C>T	ENST00000538184.1	-	7	2319	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L	SH3TC2_ENST00000515425.1_Silent_p.L930L|SH3TC2_ENST00000512049.1_Silent_p.L923L|SH3TC2_ENST00000394358.2_Silent_p.L815L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	930							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)			GTCCAGACACCAGAACTTGGG	0.468000													130	86					0	0	0.003610	0	0
SOBP	55084	broad.mit.edu	37	6	107954763	107954763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:107954763G>A	ENST00000317357.5	+	6	1374	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	239							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGAATACCTGGATTTTGGGGA	0.408000													35	29					0	0	0.003271	0	0
NID1	4811	broad.mit.edu	37	1	236189399	236189399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:236189399G>A	ENST00000264187.6	-	8	1863	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	NID1_ENST00000366595.3_Missense_Mutation_p.P594L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	594	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ATCTCGCTCGGGCTCAGTCAC	0.597000													33	41					0	0	0.002836	0	0
TSPAN13	27075	broad.mit.edu	37	7	16818694	16818694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:16818694G>A	ENST00000262067.4	+	5	926	c.493G>A	c.(493-495)Gtt>Att	p.V165I	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	165						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TGCTGGAGAGGTTTTGAGATT	0.393000													26	71					0	0	0.001786	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471420	146471420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:146471420C>T	ENST00000361727.3	+	2	671	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	52	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCAGCTCCTCCTCCATCTCT	0.423000										HNSCC(39;0.1)			7	33					0	0	0.000673	0	0
PLCE1	51196	broad.mit.edu	37	10	96058361	96058361	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96058361A>G	ENST00000260766.3	+	24	6027	c.5393A>G	c.(5392-5394)aAc>aGc	p.N1798S	PLCE1_ENST00000371385.3_Missense_Mutation_p.N1490S|PLCE1_ENST00000371375.1_Missense_Mutation_p.N1490S|PLCE1_ENST00000371380.2_Missense_Mutation_p.N1798S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1798	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACTCTTCCAACCCGAACCCC	0.567000													26	2					0	0	0.005443	0	0
OBSCN	84033	broad.mit.edu	37	1	228437925	228437925	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:228437925C>T	ENST00000570156.2	+	15	4643	c.4569C>T	c.(4567-4569)ttC>ttT	p.F1523F	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F1431F|OBSCN_ENST00000422127.1_Silent_p.F1431F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	501	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTCTCCTTCAGCCTGGACG	0.642000													71	191					0	0	0.003610	0	0
KRT73	319101	broad.mit.edu	37	12	53002031	53002031	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53002031G>A	ENST00000305748.3	-	9	1606	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	524	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTTCCCTGGGAGTCCCTGA	0.562000													32	91					0	0	0.001512	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280058	32280058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32280058C>T	ENST00000360482.2	-	2	1006	c.877G>A	c.(877-879)Gat>Aat	p.D293N	SPOCD1_ENST00000373648.2_Missense_Mutation_p.D293N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.D293N|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	293					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGGCCCATCCCCTGTAGCG	0.632000													9	12					0	0	0.006214	0	0
PLCB3	5331	broad.mit.edu	37	11	64029442	64029442	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64029442C>T	ENST00000540288.1	+	17	2035	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	PLCB3_ENST00000279230.6_Silent_p.L644L|PLCB3_ENST00000325234.5_Silent_p.L577L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	644	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGCAGCAGCTCAGCCGCATCT	0.622000													21	67					0	0	0.001882	0	0
EMC8	10328	broad.mit.edu	37	16	85813389	85813389	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:85813389G>A	ENST00000253457.3	-	5	802	c.558C>T	c.(556-558)ttC>ttT	p.F186F	EMC8_ENST00000435200.2_3'UTR	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		GGTGGTTATCGAAATCCACGA	0.547000													60	34					0	0	0.003610	0	0
AMICA1	120425	broad.mit.edu	37	11	118071226	118071226	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:118071226G>A	ENST00000292067.7	-	6	1285	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	AMICA1_ENST00000526620.1_Silent_p.L253L|AMICA1_ENST00000533261.1_Silent_p.L281L|AMICA1_ENST00000356289.5_Silent_p.L292L	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	292					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAATATCAGAACAGGGAGC	0.557000													9	36					0	0	0.006214	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572475	120572475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:120572475G>A	ENST00000300648.6	-	52	7076	c.7064C>T	c.(7063-7065)gCc>gTc	p.A2355V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2355					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTGCAGGGCTTTGGTGAA	0.587000													27	94					0	0	0.002096	0	0
CAPN11	11131	broad.mit.edu	37	6	44144346	44144346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44144346G>A	ENST00000542245.1	+	10	1068	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CAPN11_ENST00000398776.1_Missense_Mutation_p.D344N			Q9UMQ6	CAN11_HUMAN	calpain 11	344	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTGGCCTCAGACATCCAGAT	0.627000													44	28					0	0	0.003610	0	0
CADPS	8618	broad.mit.edu	37	3	62385167	62385167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:62385167C>T	ENST00000383710.4	-	30	4325	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K	CADPS_ENST00000283269.9_Missense_Mutation_p.E1287K|CADPS_ENST00000357948.3_Missense_Mutation_p.E1247K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1326	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCTGTGGCTTCCTCCACAGTG	0.507000													12	23					0	0	0.001368	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330010	8330010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8330010G>A	ENST00000359286.4	+	5	823	c.734G>A	c.(733-735)aGa>aAa	p.R245K		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AACCTTCGAAGACATGAGAGA	0.383000													74	216					0	0	0.003610	0	0
ADAM21	8747	broad.mit.edu	37	14	70924998	70924998	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70924998G>C	ENST00000603540.1	+	2	1040	c.782G>C	c.(781-783)tGg>tCg	p.W261S	ADAM21_ENST00000267499.3_Missense_Mutation_p.W261S|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	261	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGAAATTTGGAATCAAGGA	0.368000													8	46					0	0	0.000673	0	0
PEG3	5178	broad.mit.edu	37	19	57327766	57327766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57327766C>T	ENST00000326441.9	-	10	2407	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E558K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E556K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E682K|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	682					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGCTTCTCCTTATTGTAA	0.438000													7	33					0	0	0.001984	0	0
SPON1	10418	broad.mit.edu	37	11	14101552	14101552	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:14101552C>T	ENST00000310358.7	+	0	1196							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAAGACACACCCAAAGGATTA	0.483000													16	21					0	0	0.001523	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579800	11579800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:11579800C>T	ENST00000294484.6	+	9	2201	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S688F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	688					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGAGACGTGTCCCTGGTGTCT	0.657000													59	83					0	0	0.003610	0	0
STOX1	219736	broad.mit.edu	37	10	70644837	70644837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:70644837C>T	ENST00000298596.6	+	3	1368	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	STOX1_ENST00000421961.2_Nonsense_Mutation_p.R319*|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Nonsense_Mutation_p.R429*|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	429						cytoplasm|nucleolus	DNA binding	p.R429R(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGGCCATTCTCGAAGGGATAG	0.512000													51	5					0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76440879	76440879	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76440879C>T	ENST00000389840.5	-	71	11417	c.11292_splice	c.e71-1	p.A3765_splice	DNAH17_ENST00000585328.1_Splice_Site_p.A3774_splice|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGAGGGCCTAGGGGCAG	0.577000													9	37					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179633403	179633403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179633403C>T	ENST00000589042.1	-	38	9384	c.9160G>A	c.(9160-9162)Gaa>Aaa	p.E3054K	TTN_ENST00000591111.1_Missense_Mutation_p.E3054K|TTN_ENST00000342992.6_Missense_Mutation_p.E3054K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3008K|TTN_ENST00000360870.5_Missense_Mutation_p.E3054K|TTN_ENST00000460472.2_Missense_Mutation_p.E3008K|TTN_ENST00000342175.6_Missense_Mutation_p.E3008K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2793							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)			ACCATACCTTCCACATAAAGT	0.363000													11	10					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9082792	9082792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9082792G>A	ENST00000397910.4	-	1	9226	c.9023C>T	c.(9022-9024)tCt>tTt	p.S3008F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3009	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCAAGAGAGGTCGATGT	0.498000													11	34					0	0	0.000673	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:146741041G>A	ENST00000361727.3	+	4	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)			11	31					0	0	0.000673	0	0
FREM1	158326	broad.mit.edu	37	9	14797593	14797593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:14797593C>T	ENST00000380881.4	-	22	4560	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	FREM1_ENST00000380880.3_Missense_Mutation_p.D1248N|FREM1_ENST00000422223.2_Missense_Mutation_p.D1248N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1248					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATTGTAAAATCATCAGCAAGG	0.363000													35	36					0	0	0.005524	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701746	96701746	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96701746C>T	ENST00000260682.6	+	2	312	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	100					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGGCATTTTCCCACTGGCTG	0.478000													4	4					0	0	0.001168	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065008	62065008	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:62065008A>G	ENST00000358585.1	-	2	231	c.178T>C	c.(178-180)Ttg>Ctg	p.L60L		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	60						extracellular region	binding			lung(1)|prostate(1)	2						TTCACTTCCAACTTGGCTGCA	0.423000													114	47					0	0	0.003610	0	0
KMO	8564	broad.mit.edu	37	1	241725503	241725503	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:241725503C>T	ENST00000366559.4	+	7	797	c.486C>T	c.(484-486)ctC>ctT	p.L162L	KMO_ENST00000366557.4_Silent_p.L162L|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Silent_p.L162L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	162					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CTTGTGACCTCATTGTAGGAT	0.393000													6	26					0	0	0.003080	0	0
SYT1	6857	broad.mit.edu	37	12	79693274	79693274	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:79693274G>A	ENST00000261205.4	+	8	1410	c.753G>A	c.(751-753)gtG>gtA	p.V251V	SYT1_ENST00000393240.3_Silent_p.V251V|SYT1_ENST00000457153.2_Silent_p.V248V|SYT1_ENST00000552744.1_Silent_p.V251V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	251	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAACACAGTGGATTTTGGCC	0.428000													15	43					0	0	0.002450	0	0
UBR5	51366	broad.mit.edu	37	8	103326079	103326079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:103326079G>A	ENST00000520539.1	-	16	2566	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	UBR5_ENST00000521922.1_Missense_Mutation_p.R648W|UBR5_ENST00000220959.4_Missense_Mutation_p.R654W	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	654					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.R654W(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCACTTCCCGAAGAGACCAC	0.383000													34	146					0	0	0.006999	0	0
GSN	2934	broad.mit.edu	37	9	124091552	124091552	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:124091552C>T	ENST00000373823.3	+	23	2829	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	GSN_ENST00000449733.1_Silent_p.L642L|GSN_ENST00000436847.1_Silent_p.L653L|GSN_ENST00000394353.2_Silent_p.L653L|GSN_ENST00000412819.1_Silent_p.L642L|GSN_ENST00000373807.1_Silent_p.L424L|GSN_ENST00000373818.4_Silent_p.L693L|GSN_ENST00000341272.2_Silent_p.L642L|GSN_ENST00000373806.1_Silent_p.L118L|GSN_ENST00000373808.2_Silent_p.L642L|GSN_ENST00000545652.1_Silent_p.L650L			P06396	GELS_HUMAN	gelsolin	693	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCAGGAAGACCTGGCAACGGA	0.552000													32	59					0	0	0.006999	0	0
OR2M5	127059	broad.mit.edu	37	1	248309381	248309381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248309381G>A	ENST00000366476.1	+	1	932	c.932G>A	c.(931-933)gGa>gAa	p.G311E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G311V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GGCAAGTGTGGAGAGTGAGTA	0.428000													13	14					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179584732	179584732	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179584732G>A	ENST00000589042.1	-	81	23861	c.23637C>T	c.(23635-23637)tgC>tgT	p.C7879C	TTN_ENST00000591111.1_Silent_p.C7562C|TTN_ENST00000342992.6_Silent_p.C6635C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7562	Ig-like 61.						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)			AGACTGCAGAGCATTCTCTCA	0.388000													3	4					0	0	0.004672	0	0
RNF213	57674	broad.mit.edu	37	17	78286854	78286854	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:78286854C>A	ENST00000582970.1	+	15	2841	c.2698C>A	c.(2698-2700)Caa>Aaa	p.Q900K	RNF213_ENST00000319921.4_Missense_Mutation_p.Q900K|RNF213_ENST00000508628.2_Missense_Mutation_p.Q949K|RNF213_ENST00000456466.1_Missense_Mutation_p.Q900K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	900										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAATTCAGTCCAAACAGTCTT	0.493000													6	110					0.00307968	0.00613492	0.003080	1	0
GAPVD1	26130	broad.mit.edu	37	9	128064778	128064778	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:128064778C>T	ENST00000470056.1	+	3	862	c.702C>T	c.(700-702)ctC>ctT	p.L234L	GAPVD1_ENST00000312123.9_Silent_p.L234L|GAPVD1_ENST00000394083.2_Silent_p.L234L|GAPVD1_ENST00000394104.2_Silent_p.L234L|GAPVD1_ENST00000495955.1_Silent_p.L234L|GAPVD1_ENST00000265956.4_Silent_p.L234L|GAPVD1_ENST00000297933.6_Silent_p.L234L|GAPVD1_ENST00000394084.1_Silent_p.L234L|GAPVD1_ENST00000394105.2_Silent_p.L234L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	234	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGAAAAACTCTTTGGAGAGA	0.408000													13	8					0	0	0.001368	0	0
GALNT2	2590	broad.mit.edu	37	1	230415147	230415147	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:230415147G>A	ENST00000366672.4	+	16	1731	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	GALNT2_ENST00000543760.1_Silent_p.E515E|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	553	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAAGCGTGGAGGTGTGTGGCC	0.637000													41	48					0	0	0.002852	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545322	234545322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234545322G>A	ENST00000344644.5	+	1	223	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	UGT1A10_ENST00000373445.1_Missense_Mutation_p.G52R|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATCCTCAGGGGGCATGAGGT	0.532000													9	12					0	0	0.000673	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48839663	48839663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48839663G>A	ENST00000376423.4	-	15	1335	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R457C|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R443C|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.R488C	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	488						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATCTGCCCACGGAGCTCCTCC	0.597000													22	32					0	0	0.003330	0	0
ABCA12	26154	broad.mit.edu	37	2	215839566	215839566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:215839566C>T	ENST00000272895.7	-	35	5623	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1484T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1802					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A1802T(1)		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)		GAGACAAGTGCTTCCGTGCTC	0.383000													18	17					0	0	0.007413	0	0
LAMC2	3918	broad.mit.edu	37	1	183212336	183212336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:183212336C>T	ENST00000264144.4	+	23	3448	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1128	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAAGCTTTCCCGAGCCAAG	0.517000													19	30					0	0	0.001216	0	0
OR2C1	4993	broad.mit.edu	37	16	3406252	3406252	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3406252C>T	ENST00000304936.2	+	1	364	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTATGTCTTCCTTTGGCTGG	0.562000													20	17					0	0	0.007413	0	0
DCN	1634	broad.mit.edu	37	12	91546958	91546958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:91546958G>A	ENST00000052754.5	-	6	1162	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DCN_ENST00000552962.1_Missense_Mutation_p.P221S|DCN_ENST00000547568.2_Missense_Mutation_p.P74S|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.P112S|DCN_ENST00000425043.1_Missense_Mutation_p.P74S|DCN_ENST00000228329.5_Missense_Mutation_p.P112S|DCN_ENST00000393155.1_Missense_Mutation_p.P221S|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	221					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTAAGGGAAGGAGGAAGACCT	0.343000													13	42					0	0	0.002450	0	0
SPTA1	6708	broad.mit.edu	37	1	158632681	158632681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158632681G>A	ENST00000368148.3	-	17	2455	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S	SPTA1_ENST00000368147.3_Missense_Mutation_p.P759S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	759					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGAATCAGGATGGCCTATT	0.438000													29	49					0	0	0.007291	0	0
GPR37	2861	broad.mit.edu	37	7	124404308	124404308	+	Silent	SNP	C	C	T	rs62638683	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:124404308C>T	ENST00000303921.2	-	1	1373	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	241						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						CACGCCGGTTCGTGCTGTTTC	0.627000													22	52					0	0	0.001882	0	0
CCNJL	79616	broad.mit.edu	37	5	159686764	159686764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:159686764G>A	ENST00000393977.3	-	5	724	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CCNJL_ENST00000541762.1_Missense_Mutation_p.R98W|CCNJL_ENST00000519673.1_Missense_Mutation_p.R99W|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.R99W	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	147	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCTTCCCGATCCTCGAAC	0.557000													34	56					0	0	0.007835	0	0
MUC17	140453	broad.mit.edu	37	7	100682653	100682653	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100682653C>T	ENST00000306151.4	+	3	8020	c.7956C>T	c.(7954-7956)acC>acT	p.T2652T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2652	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCTAGCACCCTTTCAACAA	0.473000													107	103					0	0	0.003610	0	0
MAPK13	5603	broad.mit.edu	37	6	36107131	36107131	+	Missense_Mutation	SNP	G	G	A	rs150915766	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:36107131G>A	ENST00000211287.4	+	12	1341	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	MAPK13_ENST00000373761.6_Missense_Mutation_p.R350Q|MAPK13_ENST00000373766.5_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	360					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						TCACGGCGCCGGAGTGGCATG	0.547000													53	33					0	0	0.003610	0	0
VASH2	79805	broad.mit.edu	37	1	213134549	213134549	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:213134549G>A	ENST00000366968.4	+	4	473	c.123G>A	c.(121-123)acG>acA	p.T41T	VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Silent_p.T106T|VASH2_ENST00000366966.2_Silent_p.T41T|VASH2_ENST00000366967.2_Silent_p.T2T|VASH2_ENST00000517399.1_Silent_p.T106T|VASH2_ENST00000366964.3_5'UTR	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	106					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGTCGATGACGATCCCAGACT	0.542000													70	230					0	0	0.003610	0	0
TTLL9	164395	broad.mit.edu	37	20	30475021	30475021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:30475021G>A	ENST00000375938.4	+	3	345	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TTLL9_ENST00000535842.1_Missense_Mutation_p.G31E|TTLL9_ENST00000375934.4_Missense_Mutation_p.G13E|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000310998.4_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	31					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGGCCATGGATTGTCAAAG	0.463000													17	33					0	0	0.007413	0	0
ZNF616	90317	broad.mit.edu	37	19	52619838	52619838	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:52619838G>A	ENST00000600228.1	-	4	840	c.579C>T	c.(577-579)gcC>gcT	p.A193A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	193					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)		ACGCTTTAAAGGCTTTGCCAC	0.383000													14	16					0	0	0.001855	0	0
RYR3	6263	broad.mit.edu	37	15	34040379	34040379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:34040379C>T	ENST00000389232.4	+	54	8124	c.8054C>T	c.(8053-8055)aCt>aTt	p.T2685I	RYR3_ENST00000415757.3_Missense_Mutation_p.T2685I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2685	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGGGCTGGACTGTGGAGAGG	0.522000													5	12					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36897178	36897178	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:36897178C>T	ENST00000429976.2	-	12	4150	c.3903G>A	c.(3901-3903)ctG>ctA	p.L1301L	TRANK1_ENST00000428977.2_Silent_p.L751L|TRANK1_ENST00000301807.6_Silent_p.L751L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1301					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTCCAAATCAGTGCAGGGT	0.458000													45	30					0	0	0.003610	0	0
GORASP1	64689	broad.mit.edu	37	3	39149295	39149295	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:39149295C>T	ENST00000319283.3	-	0	559				TTC21A_ENST00000431162.2_5'UTR|TTC21A_ENST00000301819.6_5'UTR	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa						mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CACCGCCCCACCAGACCCGGA	0.677000													26	49					0	0	0.006320	0	0
SAMD9	54809	broad.mit.edu	37	7	92732760	92732760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:92732760G>A	ENST00000379958.2	-	3	2920	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	884						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCATAAAGGAATAAAAATC	0.338000													28	42					0	0	0.005443	0	0
DDX54	79039	broad.mit.edu	37	12	113603672	113603672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:113603672G>A	ENST00000314045.7	-	13	1607	c.1580C>T	c.(1579-1581)tCg>tTg	p.S527L	DDX54_ENST00000306014.5_Missense_Mutation_p.S527L	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	527					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGACTCAGGCGAGGGCGCCGG	0.662000													11	34					0	0	0.000978	0	0
RP1	6101	broad.mit.edu	37	8	55542561	55542561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55542561C>T	ENST00000220676.1	+	4	6267	c.6119C>T	c.(6118-6120)tCa>tTa	p.S2040L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2040					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGCACACATCATTGTTAGTT	0.328000													29	46					0	0	0.002836	0	0
KCNA3	3738	broad.mit.edu	37	1	111216661	111216661	+	Silent	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:111216661C>G	ENST00000369769.2	-	1	994	c.771G>C	c.(769-771)ccG>ccC	p.P257P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	257						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCGGAACTCCGGCAGCGTCT	0.662000													21	44					0	0	0.001523	0	0
ABCC6	368	broad.mit.edu	37	16	16297344	16297344	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16297344G>A	ENST00000205557.7	-	8	950	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	307					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGTAGAATGGAACACCTGCC	0.597000													28	55					0	0	0.002445	0	0
KLK1	3816	broad.mit.edu	37	19	51323464	51323464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51323464C>T	ENST00000448701.2	-	4	1460	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	KLK1_ENST00000301420.2_Missense_Mutation_p.E148K			P06870	KLK1_HUMAN	kallikrein 1	148	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity	p.E148Q(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCACTTCGGGTTCCTCG	0.607000													26	40					0	0	0.005443	0	0
OR5J2	282775	broad.mit.edu	37	11	55944718	55944718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55944718G>A	ENST00000312298.1	+	1	625	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CATTGCCATGGCCACCTTCTT	0.478000													12	29					0	0	0.001368	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25171687	25171687	+	RNA	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:25171687A>G	ENST00000453498.1	+	0	1583																											TCTGGGAAAGAATTAATGTTC	0.383000													3	6					0	0	0.000248	0	0
LY75	4065	broad.mit.edu	37	2	160728972	160728972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:160728972C>T	ENST00000263636.4	-	13	2134	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N	LY75_ENST00000554112.1_Missense_Mutation_p.D703N|LY75_ENST00000553424.1_Missense_Mutation_p.D703N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D703N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D703N	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTGAACTGGTCCGTTAAAAAG	0.398000													4	16					0	0	0.000248	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668210	45668210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45668210C>T	ENST00000588062.1	-	2	121	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	TRAPPC6A_ENST00000585934.1_Silent_p.L57L|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.G49S|TRAPPC6A_ENST00000006275.4_Silent_p.L71L	NM_001270893.1	NP_001257822.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	35					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CCCTGAAGGCCAGCGTCTCCC	0.632000													64	56					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3224729	3224729	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:3224729G>A	ENST00000602557.1	-	21	3498	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S	CSMD1_ENST00000539096.1_Silent_p.S980S|CSMD1_ENST00000602723.1_Silent_p.S981S|CSMD1_ENST00000537824.1_Silent_p.S980S|CSMD1_ENST00000542608.1_Silent_p.S980S|CSMD1_ENST00000520002.1_Silent_p.S981S|CSMD1_ENST00000400186.3_Silent_p.S981S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	981	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATAGTCGTGGGAACTCTCAA	0.537000													6	4					0	0	0.001984	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454144	84454144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:84454144C>T	ENST00000377084.2	-	1	2384	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	500						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTGTGCAGGCTGAGTTTAGA	0.547000													29	13					0	0	0.002096	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:69033271G>A	ENST00000288368.4	+	30	3988	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R1237R(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000													11	38					0	0	0.003163	0	0
FYB	2533	broad.mit.edu	37	5	39202066	39202066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:39202066C>T	ENST00000351578.6	-	2	1187	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	FYB_ENST00000505428.1_Missense_Mutation_p.E333K|FYB_ENST00000512982.1_Missense_Mutation_p.E333K|FYB_ENST00000515010.1_Missense_Mutation_p.E333K|FYB_ENST00000540520.1_Missense_Mutation_p.E343K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	333					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTCCCTTTTCCTTTTCCTGA	0.542000													5	13					0	0	0.000602	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889893	89889893	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:89889893G>A	ENST00000513638.1	+	0	634					NR_003133.2																						ATGAGCAGATGATGGAACAGA	0.468000													107	175					0	0	0.003610	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324406	128324406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:128324406C>T	ENST00000262462.4	+	3	1809	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H267Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H267Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	267					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCCTCTGTATCATAGTTCAGC	0.383000													22	56					0	0	0.003330	0	0
BSN	8927	broad.mit.edu	37	3	49694789	49694789	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49694789G>A	ENST00000296452.4	+	5	7914	c.7800G>A	c.(7798-7800)cgG>cgA	p.R2600R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2600	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTGAGTCGGCGACGCCGGG	0.642000													14	36					0	0	0.002450	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342728	16342728	+	RNA	SNP	G	G	A	rs11540320		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:16342728G>A	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	NR_027667.1																						GAGAGAACTGGGTAAGTTGGG	0.577000													33	75					0	0	0.001786	0	0
GBF1	8729	broad.mit.edu	37	10	104142018	104142018	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:104142018C>T	ENST00000369983.3	+	40	5765	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1835	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGCTCATCGAGGCCACCT	0.637000													42	54					0	0	0.003214	0	0
ZBBX	79740	broad.mit.edu	37	3	166960340	166960340	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:166960340G>A	ENST00000392766.2	-	20	2569	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	ZBBX_ENST00000307529.5_Silent_p.F782F|ZBBX_ENST00000455345.2_Silent_p.F782F|ZBBX_ENST00000392767.2_Silent_p.F743F|ZBBX_ENST00000392764.1_Silent_p.F714F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	743						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGGTCTTAAGGAAATCTGTGG	0.368000													11	35					0	0	0.000978	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167090	146167090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:146167090C>T	ENST00000497985.1	-	8	1206	c.767G>A	c.(766-768)aGa>aAa	p.R256K	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R183K	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	183					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAATGCCTCTCTTAAAAACCC	0.353000													12	36					0	0	0.002450	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520778	33520778	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:33520778C>T	ENST00000297307.5	-	1	634	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	183						integral to membrane		p.G183G(1)									CACCCGTGGTCCCCTCCTGTA	0.592000													115	70					0	0	0.003610	0	0
ABCB5	340273	broad.mit.edu	37	7	20782554	20782554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:20782554C>T	ENST00000404938.2	+	25	3731	c.3079C>T	c.(3079-3081)Cgc>Tgc	p.R1027C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	582					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTATCCATGTCGCCCAGATGT	0.468000													23	28					0	0	0.004656	0	0
CCDC132	55610	broad.mit.edu	37	7	92978093	92978093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:92978093C>T	ENST00000544910.1	+	25	2408	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.P760S|CCDC132_ENST00000541136.1_Missense_Mutation_p.P571S|CCDC132_ENST00000535481.1_Missense_Mutation_p.P480S	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	760										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTCAAAAAGCCCTTTCTTCA	0.403000													29	24					0	0	0.007291	0	0
NXPH4	11247	broad.mit.edu	37	12	57619155	57619155	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57619155G>A	ENST00000349394.5	+	2	727	c.552G>A	c.(550-552)ggG>ggA	p.G184G	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	184	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCTGGAGGGGGTGCTTCCTG	0.751000													30	59					0	0	0.001786	0	0
SEPT14	346288	broad.mit.edu	37	7	55863729	55863729	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:55863729G>A	ENST00000388975.3	-	10	1292	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	392					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCTTCCTCGAGCTTCCTTA	0.438000													13	37					0	0	0.001855	0	0
ZNF226	7769	broad.mit.edu	37	19	44681084	44681084	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:44681084A>G	ENST00000590089.1	+	7	2036	c.1669A>G	c.(1669-1671)Aaa>Gaa	p.K557E	ZNF226_ENST00000454662.2_Missense_Mutation_p.K557E|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.K557E			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTATAGAGAAACCTTTTAA	0.453000													23	65					0	0	0.006320	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212507	50212507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:50212507G>A	ENST00000284509.6	-	18	2000	c.1859C>T	c.(1858-1860)gCt>gTt	p.A620V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A620V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	620					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGTGGCAGCATTCGCATC	0.438000													76	82					0	0	0.003610	0	0
NLRC5	84166	broad.mit.edu	37	16	57054813	57054813	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:57054813C>T	ENST00000436936.1	+	3	414	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NLRC5_ENST00000308149.7_Silent_p.V63V|NLRC5_ENST00000262510.6_Silent_p.V63V|NLRC5_ENST00000539144.1_Silent_p.V63V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	63					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCTGCATGTCCAGGGTTCGG	0.537000													22	16					0	0	0.002780	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890988	32890988	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:32890988G>A	ENST00000330048.5	-	0	2978					NR_003083.2																						GCCAGAGCAGGGTGGTGCCAC	0.627000													17	29					0	0	0.007413	0	0
NRG1	3084	broad.mit.edu	37	8	32621578	32621578	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:32621578G>A	ENST00000338921.4	+	13	2122	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	NRG1_ENST00000287840.5_Silent_p.T527T|NRG1_ENST00000405005.2_Silent_p.T527T|NRG1_ENST00000287842.3_Silent_p.T524T|NRG1_ENST00000539990.1_Silent_p.T370T|NRG1_ENST00000287845.5_Silent_p.T498T|NRG1_ENST00000356819.4_Silent_p.T532T|NRG1_ENST00000519301.1_Silent_p.T477T|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	527				Q -> R (in Ref. 2; AAA19951).	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATGAAACGACCCAAGAGT	0.552000													5	6					0	0	0.000602	0	0
LILRA4	23547	broad.mit.edu	37	19	54849935	54849935	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54849935G>A	ENST00000291759.4	-	3	143	c.87C>T	c.(85-87)ccC>ccT	p.P29P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	29	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCCACAGGATGGGTTTGGGTA	0.592000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	25	56					0	0	0.003330	0	0
FAIM	55179	broad.mit.edu	37	3	138340342	138340342	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:138340342G>A	ENST00000338446.4	+	3	857	c.174G>A	c.(172-174)ggG>ggA	p.G58G	FAIM_ENST00000360570.3_Silent_p.G46G|FAIM_ENST00000464668.1_Silent_p.G24G|FAIM_ENST00000393035.2_Silent_p.G24G|FAIM_ENST00000393034.2_Silent_p.G24G	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	24					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TTGAACATGGGACTACATCAG	0.363000													104	201					0	0	0.003610	0	0
FNDC1	84624	broad.mit.edu	37	6	159655317	159655317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:159655317C>T	ENST00000297267.9	+	11	3973	c.3773C>T	c.(3772-3774)cCt>cTt	p.P1258L	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1195L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1258						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCACGTCCCTTCCCGACTG	0.741000													7	4					0	0	0.001984	0	0
ADAP2	55803	broad.mit.edu	37	17	29283462	29283462	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:29283462C>T	ENST00000330889.3	+	10	1421	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Silent_p.S368S	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	362					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCCTGTCCAGCCCCTTGACGC	0.532000													5	14					0	0	0.001984	0	0
ZNF514	84874	broad.mit.edu	37	2	95815370	95815370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:95815370G>A	ENST00000295208.2	-	5	1322	c.860C>T	c.(859-861)cCc>cTc	p.P287L	ZNF514_ENST00000411425.1_Missense_Mutation_p.P287L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						ACATTTGTAGGGTTTCTCTCC	0.453000													17	10					0	0	0.004007	0	0
TRAFD1	10906	broad.mit.edu	37	12	112579928	112579928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:112579928C>T	ENST00000257604.5	+	6	1296	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.Q227*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	227					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAATAGAGGCCAACAGCCCCC	0.463000													14	25					0	0	0.004007	0	0
NAV1	89796	broad.mit.edu	37	1	201777278	201777278	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:201777278G>A	ENST00000367296.4	+	18	4265		c.e18+1		NAV1_ENST00000367295.1_Splice_Site|NAV1_ENST00000295624.6_Splice_Site|NAV1_ENST00000367300.3_Splice_Site|NAV1_ENST00000367302.1_Splice_Site|NAV1_ENST00000367297.4_Splice_Site|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ATGTCACCGAGTAAGTGCTCT	0.542000													28	88					0	0	0.001512	0	0
ABCC2	1244	broad.mit.edu	37	10	101611279	101611279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:101611279G>A	ENST00000370449.4	+	32	4642	c.4529G>A	c.(4528-4530)gGg>gAg	p.G1510E		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1510	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTAGACAACGGGAAGATTATA	0.418000													47	4					0	0	0.003610	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342727	16342727	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:16342727G>A	ENST00000475953.1	+	0	369				C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	NR_027667.1																						CGAGAGAACTGGGTAAGTTGG	0.577000													34	74					0	0	0.002096	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401041	17401041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:17401041G>A	ENST00000470360.1	+	4	430	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	SLC7A2_ENST00000494857.1_Missense_Mutation_p.G65S|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G105S|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G65S|SLC7A2_ENST00000398090.3_Missense_Mutation_p.G105S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	65					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCAGACTCGGGCCCCAGCAT	0.632000													17	12					0	0	0.004990	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000													94	11					0	0	0.003610	0	0
PCSK6	5046	broad.mit.edu	37	15	101858555	101858555	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:101858555C>T	ENST00000348070.1	-	20	2534	c.2535G>A	c.(2533-2535)ggG>ggA	p.G845G	PCSK6_ENST00000358417.3_Silent_p.G832G|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	846	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATGGCATTCCCCACATCTGA	0.587000													7	2					0	0	0.004482	0	0
OR10A4	283297	broad.mit.edu	37	11	6898379	6898379	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6898379C>T	ENST00000379829.2	+	1	524	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTCAGTTTCCCTTTTTGTG	0.527000													9	23					0	0	0.000978	0	0
SOX6	55553	broad.mit.edu	37	11	16071320	16071320	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:16071320C>T	ENST00000352083.6	-	11	1493	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	SOX6_ENST00000527619.1_Silent_p.L434L|SOX6_ENST00000528252.1_Silent_p.L431L|SOX6_ENST00000396356.3_Silent_p.L472L|SOX6_ENST00000528429.1_Silent_p.L472L|SOX6_ENST00000316399.6_Silent_p.L472L			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	472					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATCCTCTTCCCAGGCTTCCTC	0.478000													9	22					0	0	0.004482	0	0
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:176993856C>T	ENST00000367654.2	-	6	1146	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R378Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R378Q			O14525	ASTN1_HUMAN	astrotactin 1	378					cell migration|neuron cell-cell adhesion	integral to membrane		p.R378Q(1)		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						CACAGGACTTCGGGGAGAACC	0.493000													12	33					0	0	0.003163	0	0
MMP13	4322	broad.mit.edu	37	11	102819764	102819764	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102819764G>A	ENST00000260302.3	-	7	1069	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	MMP13_ENST00000340273.4_Silent_p.F347F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	347	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTCTGAAGATGAAGATGAGGT	0.458000													11	18					0	0	0.001368	0	0
MTM1	4534	broad.mit.edu	37	X	149809855	149809855	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:149809855G>A	ENST00000370396.2	+	8	696	c.642G>A	c.(640-642)cgG>cgA	p.R214R	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.R177R|MTM1_ENST00000542741.1_Silent_p.R119R|MTM1_ENST00000543350.1_Silent_p.R99R	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	214	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCTCCGGAGAGTTGCAA	0.418000													9	13					0	0	0.000978	0	0
SORL1	6653	broad.mit.edu	37	11	121489516	121489516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:121489516G>A	ENST00000260197.7	+	42	5767	c.5638G>A	c.(5638-5640)Gac>Aac	p.D1880N	SORL1_ENST00000534286.1_Missense_Mutation_p.D790N|SORL1_ENST00000525532.1_Missense_Mutation_p.D824N|SORL1_ENST00000532694.1_Missense_Mutation_p.D726N|SORL1_ENST00000527934.1_Missense_Mutation_p.D495N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1880	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCTTTCTTGACCTCTATCG	0.438000													23	51					0	0	0.005443	0	0
TPTE	7179	broad.mit.edu	37	21	10934955	10934955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:10934955G>A	ENST00000298232.7	-	14	1151	c.784C>T	c.(784-786)Cga>Tga	p.R262*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R280*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R242*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAGACTCGATAGTGGTTT	0.333000													11	83					0	0	0.001368	0	0
NEDD4L	23327	broad.mit.edu	37	18	55983259	55983259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:55983259C>T	ENST00000382850.4	+	6	456	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	NEDD4L_ENST00000357895.5_Missense_Mutation_p.L107F|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L115F|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L107F|NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L115F|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L115F|NEDD4L_ENST00000589054.1_Intron	NM_015277.5	NP_056092.2	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	115					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCTTAGTCACCTTCCGGTAAG	0.493000													58	137					0	0	0.003610	0	0
NUCB2	4925	broad.mit.edu	37	11	17332783	17332783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:17332783G>A	ENST00000529010.1	+	8	932	c.713G>A	c.(712-714)gGa>gAa	p.G238E	NUCB2_ENST00000323688.6_Missense_Mutation_p.G238E|NUCB2_ENST00000458064.2_Missense_Mutation_p.G238E	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	238	Binds to necdin (By similarity).					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGACTGATGGATTGGATCCT	0.308000													6	22					0	0	0.004482	0	0
KLK13	26085	broad.mit.edu	37	19	51559980	51559980	+	Missense_Mutation	SNP	G	G	A	rs147145797		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51559980G>A	ENST00000595793.1	-	5	740	c.698C>T	c.(697-699)tCc>tTc	p.S233F	KLK13_ENST00000335422.3_Missense_Mutation_p.S81F|KLK13_ENST00000595547.1_Missense_Mutation_p.S160F	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	233	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GTCTCCCCAGGAGACGATGCC	0.552000													22	63					0	0	0.001523	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432314	20432314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:20432314C>T	ENST00000377252.3	+	5	1473	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PLXDC2_ENST00000377242.3_Missense_Mutation_p.S162F|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	211						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCAGTGTATCCAGAAATTCA	0.358000													31	4					0	0	0.001512	0	0
APOH	350	broad.mit.edu	37	17	64210719	64210719	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64210719C>T	ENST00000205948.6	-	7	871	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	278	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTTACTCTCTCTCCTTGGT	0.363000													17	65					0	0	0.004990	0	0
DPEP1	1800	broad.mit.edu	37	16	89704247	89704247	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89704247C>T	ENST00000393092.3	+	10	1224	c.933C>T	c.(931-933)gtC>gtT	p.V311V	DPEP1_ENST00000421184.1_Silent_p.V311V|DPEP1_ENST00000261615.4_Silent_p.V311V	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	311					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AACACAGGGTCCCTGAGGGGC	0.637000													13	29					0	0	0.001855	0	0
MSLN	10232	broad.mit.edu	37	16	816368	816368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:816368C>T	ENST00000566549.1	+	12	1525	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	MSLN_ENST00000545450.2_Nonsense_Mutation_p.Q370*|MSLN_ENST00000563941.1_Nonsense_Mutation_p.Q370*|MSLN_ENST00000382862.3_Nonsense_Mutation_p.Q370*			Q13421	MSLN_HUMAN	mesothelin	370					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTCTGTGATCCAGCACCTGGG	0.577000													32	21					0	0	0.002836	0	0
KRT77	374454	broad.mit.edu	37	12	53096893	53096893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53096893C>T	ENST00000341809.3	-	1	354	c.326G>A	c.(325-327)gGa>gAa	p.G109E	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	109	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AAAACCACCTCCTCCAAAGCC	0.597000													5	18					0	0	0.000602	0	0
FAM32A	26017	broad.mit.edu	37	19	16301697	16301697	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:16301697G>A	ENST00000263384.7	+	4	295		c.e4-1		FAM32A_ENST00000589852.1_Splice_Site|FAM32A_ENST00000588367.1_Splice_Site	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A							nucleolus				lung(1)	1						CACCTCCCCAGGACTTCAACA	0.597000													36	47					0	0	0.003214	0	0
ISM2	145501	broad.mit.edu	37	14	77951251	77951251	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77951251G>A	ENST00000342219.4	-	2	209	c.153C>T	c.(151-153)tcC>tcT	p.S51S	ISM2_ENST00000493585.1_Silent_p.S51S|ISM2_ENST00000429906.1_Intron|ISM2_ENST00000412904.1_Silent_p.S51S|ISM2_ENST00000393684.3_5'UTR	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	51						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TAGGATCTGGGGAGGCTGAGA	0.612000													10	83					0	0	0.000978	0	0
NOXRED1	122945	broad.mit.edu	37	14	77889128	77889128	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77889128G>A	ENST00000380835.2	-	1	271	c.105C>T	c.(103-105)atC>atT	p.I35I	NOXRED1_ENST00000298358.3_Silent_p.I35I	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	35					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CACAAGCCTCGATCATCAGTC	0.478000													73	177					0	0	0.003610	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603429	140603429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140603429C>T	ENST00000239449.4	+	1	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGTTTTTTCGGTTTGAGCT	0.433000													74	154					0	0	0.003610	0	0
NAB2	4665	broad.mit.edu	37	12	57485608	57485608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57485608G>A	ENST00000300131.3	+	2	1162	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	NAB2_ENST00000342556.6_Missense_Mutation_p.G262R|NAB2_ENST00000357680.4_Missense_Mutation_p.G262R	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	262					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGGGATGCTGGGGAGGTCAC	0.557000													63	143					0	0	0.003610	0	0
RASSF6	166824	broad.mit.edu	37	4	74477518	74477518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74477518C>T	ENST00000342081.3	-	2	221	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000395777.2_5'UTR|RASSF6_ENST00000512591.1_5'UTR|RASSF6_ENST00000307439.5_5'UTR	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	31					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCTTTTCCTCCTTTTTG	0.333000													25	30					0	0	0.007291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144873949	144873949	+	Missense_Mutation	SNP	C	C	T	rs139225578	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:144873949C>T	ENST00000369359.4	-	34	5454	c.5416G>A	c.(5416-5418)Gaa>Aaa	p.E1806K	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1626K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1670K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1670K|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1670					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)		CTGTTGGATTCGGCCTTAGCC	0.498000			T	PDGFRB	MPD								56	122					0	0	0.003610	0	0
ZFR2	23217	broad.mit.edu	37	19	3823358	3823358	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3823358C>A	ENST00000262961.4	-	8	1267	c.1257G>T	c.(1255-1257)ggG>ggT	p.G419G		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	419						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)		GGGCTGGTTTCCCCCACTGGG	0.622000													26	84					3.65163e-15	7.36833e-15	0.006320	1	0
OR10K2	391107	broad.mit.edu	37	1	158390504	158390504	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158390504C>T	ENST00000314902.2	-	1	152	c.153G>A	c.(151-153)ctG>ctA	p.L51L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGGCCCTGTCCAGGACAATGG	0.507000													6	6					0	0	0.003080	0	0
RERGL	79785	broad.mit.edu	37	12	18234186	18234186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18234186C>T	ENST00000229002.2	-	6	763	c.557G>A	c.(556-558)gGa>gAa	p.G186E	RERGL_ENST00000538724.1_Missense_Mutation_p.G185E	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	186	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGATTTAGATCCACTGGGACG	0.383000													18	15					0	0	0.001523	0	0
IPO4	79711	broad.mit.edu	37	14	24656301	24656301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24656301G>A	ENST00000354464.6	-	7	820	c.644C>T	c.(643-645)cCc>cTc	p.P215L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTCATCTATGGGGATCAGAGT	0.552000													184	225					0	0	0.003610	0	0
SCD5	79966	broad.mit.edu	37	4	83602049	83602049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:83602049C>T	ENST00000319540.4	-	3	699	c.380G>A	c.(379-381)tGg>tAg	p.W127*	SCD5_ENST00000273908.4_Nonsense_Mutation_p.W127*	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	127				W -> R (in Ref. 1; AAP31443 and 2; BAB14961).	fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTCCCTGGACCACTCGAAGAT	0.597000													15	15					0	0	0.004990	0	0
KLK15	55554	broad.mit.edu	37	19	51330167	51330167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51330167C>T	ENST00000326856.4	-	4	574	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KLK15_ENST00000598239.1_Missense_Mutation_p.E150K|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.E149K|KLK15_ENST00000301421.2_Missense_Mutation_p.E150K	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	150	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCCAGGCTCGTTGTGGGAC	0.687000													19	37					0	0	0.001216	0	0
TSIX	9383	broad.mit.edu	37	X	73046878	73046878	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73046878C>T	ENST00000604411.1	+	0	34839				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CATGGGCTTTCCATCTTAGTC	0.493000													10	20					0	0	0.000978	0	0
EPG5	57724	broad.mit.edu	37	18	43534629	43534629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43534629G>A	ENST00000282041.5	-	2	773	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	247					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTTGAGACGGGAGTTCTGGG	0.453000													20	47					0	0	0.002299	0	0
C6orf58	352999	broad.mit.edu	37	6	127898428	127898428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:127898428G>A	ENST00000329722.7	+	1	110	c.98G>A	c.(97-99)tGg>tAg	p.W33*	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	33						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCCCCTCTGTGGAAGGAGAGT	0.468000													14	19					0	0	0.001855	0	0
HUWE1	10075	broad.mit.edu	37	X	53654436	53654436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53654436G>A	ENST00000342160.3	-	16	1871	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	HUWE1_ENST00000218328.8_Missense_Mutation_p.P472S|HUWE1_ENST00000262854.6_Missense_Mutation_p.P472S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	472					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACAAACGGACATTCTTTT	0.318000													66	116					0	0	0.003610	0	0
JUP	3728	broad.mit.edu	37	17	39927994	39927994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39927994C>T	ENST00000393931.3	-	2	231	c.113G>A	c.(112-114)aGc>aAc	p.S38N	JUP_ENST00000540235.1_Missense_Mutation_p.S38N|JUP_ENST00000393930.1_Missense_Mutation_p.S38N|JUP_ENST00000310706.5_Missense_Mutation_p.S38N	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	38					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCCTTGCTGCTGACGGAGGG	0.612000													15	45					0	0	0.004007	0	0
PDZD2	23037	broad.mit.edu	37	5	32087295	32087295	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:32087295T>A	ENST00000438447.1	+	20	4129	c.3741T>A	c.(3739-3741)ccT>ccA	p.P1247P	PDZD2_ENST00000282493.3_Silent_p.P1247P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1247					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGCTCATCCTGACCCCAGCA	0.587000													44	84					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482015	140482015	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140482015C>T	ENST00000231130.2	+	1	1782	c.1782C>T	c.(1780-1782)ggC>ggT	p.G594G		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		594	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGGACGGCGACTCGGGCC	0.711000													20	156					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179605489	179605489	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179605489G>A	ENST00000589042.1	-	48	12695	c.12471C>T	c.(12469-12471)tcC>tcT	p.S4157S	TTN_ENST00000591111.1_Silent_p.S3840S|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.S3919S|TTN_ENST00000460472.2_Silent_p.S3794S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.S3986S|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3840							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S3919S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTTTTCTGGGACTGTACAA	0.463000													6	8					0	0	0.001168	0	0
IL32	9235	broad.mit.edu	37	16	3117475	3117475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3117475C>T	ENST00000534507.1	+	3	324	c.113C>T	c.(112-114)aCt>aTt	p.T38I	IL32_ENST00000533097.2_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.T38I|IL32_ENST00000528163.2_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000552936.1_Missense_Mutation_p.T16I|IL32_ENST00000444393.3_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.T38I|IL32_ENST00000325568.5_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000530538.2_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.T38I|IL32_ENST00000382213.3_Intron			P24001	IL32_HUMAN	interleukin 32	38					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GCGTGTGACACTGAGGACACT	0.572000													30	78					0	0	0.002096	0	0
COL15A1	1306	broad.mit.edu	37	9	101748250	101748250	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:101748250C>T	ENST00000375001.3	+	3	927	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	168	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCATGATTGTCCAGGGTGAGG	0.602000													36	86					0	0	0.006230	0	0
RNF145	153830	broad.mit.edu	37	5	158601054	158601054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:158601054G>A	ENST00000424310.2	-	6	1093	c.734C>T	c.(733-735)tCc>tTc	p.S245F	RNF145_ENST00000274542.2_Missense_Mutation_p.S273F|RNF145_ENST00000521606.2_Missense_Mutation_p.S262F|RNF145_ENST00000518802.1_Missense_Mutation_p.S275F|RNF145_ENST00000520638.1_Missense_Mutation_p.S259F|RNF145_ENST00000519865.1_Missense_Mutation_p.S245F	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	245						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGAAATAGGAGTAAATCTG	0.413000													6	16					0	0	0.001168	0	0
OR2T10	127069	broad.mit.edu	37	1	248757031	248757031	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248757031G>A	ENST00000330500.2	-	1	69	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TTCCCAACAGGAAAAAGTCAC	0.448000													20	30					0	0	0.001882	0	0
C12orf36	283422	broad.mit.edu	37	12	13526340	13526340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:13526340C>T	ENST00000318426.2	-	3	432	c.215G>A	c.(214-216)gGa>gAa	p.G72E	C12orf36_ENST00000527705.2_Missense_Mutation_p.G72E					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCTGACTCTTCCAGGGAACGA	0.463000													19	35					0	0	0.006122	0	0
CEP128	145508	broad.mit.edu	37	14	81209607	81209607	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:81209607T>G	ENST00000555265.1	-	19	2993	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	CEP128_ENST00000281129.3_Missense_Mutation_p.K873T			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	873						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCACTGAAGTTTAGTCTAAAA	0.338000													3	7					0	0	0.004672	0	0
KMT2C	58508	broad.mit.edu	37	7	151851387	151851387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151851387G>A	ENST00000355193.2	-	48	12493	c.12275C>T	c.(12274-12276)cCc>cTc	p.P4092L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P4035L|KMT2C_ENST00000485241.1_5'UTR					lysine (K)-specific methyltransferase 2C																		TGGAATGATGGGGGACGGCAC	0.453000													19	61					0	0	0.007413	0	0
MNT	4335	broad.mit.edu	37	17	2290772	2290772	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2290772A>G	ENST00000174618.4	-	6	1577	c.1172T>C	c.(1171-1173)cTa>cCa	p.L391P	MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	391					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		ggcaggaggtagggccacgga	0.716000													23	55					0	0	0.001882	0	0
EFCAB13	124989	broad.mit.edu	37	17	45451971	45451971	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:45451971G>A	ENST00000331493.2	+	12	1422	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	EFCAB13_ENST00000517484.1_Silent_p.K241K	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TATCCAAAAAGTTAAATAAAA	0.299000													40	25					0	0	0.007835	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472611	47472611	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:47472611G>A	ENST00000266581.4	-	2	641	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	AMIGO2_ENST00000429635.1_Silent_p.L59L|AMIGO2_ENST00000550413.1_Silent_p.L59L|AMIGO2_ENST00000321382.3_Silent_p.L59L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	59	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCTTGGACAGGTTTTTGTTG	0.512000													32	79					0	0	0.002096	0	0
RAD54B	25788	broad.mit.edu	37	8	95392417	95392417	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:95392417A>G	ENST00000336148.5	-	12	2327	c.2203T>C	c.(2203-2205)Tta>Cta	p.L735L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TAGAGAATTAAGTGAGATCCT	0.348000								Direct reversal of damage;Homologous recombination					27	73					0	0	0.001786	0	0
PTTG2	10744	broad.mit.edu	37	4	37962089	37962089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:37962089G>A	ENST00000504686.1	+	1	34	c.34G>A	c.(34-36)Gga>Aga	p.G12R	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	12					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						TAAGGAAATTGGAGAACCAGG	0.448000													7	4					0	0	0.000673	0	0
CCDC116	164592	broad.mit.edu	37	22	21990776	21990776	+	Missense_Mutation	SNP	C	C	T	rs138868031		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21990776C>T	ENST00000292779.3	+	5	1420	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	420										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TCCATCTCGTCGAAGTCCAGC	0.597000													15	49					0	0	0.006122	0	0
SHCBP1	79801	broad.mit.edu	37	16	46617489	46617489	+	Silent	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:46617489A>C	ENST00000303383.3	-	12	1898	c.1632T>G	c.(1630-1632)gtT>gtG	p.V544V		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	544										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCACCAAGACAACACCATAAC	0.308000													13	28					0	0	0.002450	0	0
ALPPL2	251	broad.mit.edu	37	2	233272555	233272555	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233272555G>A	ENST00000295453.3	+	5	528	c.475_splice	c.e5-1	p.G159_splice		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	159					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCACCCTCAGGAAAGTCAGTG	0.617000													46	34					0	0	0.003610	0	0
PDIA2	64714	broad.mit.edu	37	16	335682	335682	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:335682A>G	ENST00000219406.6	+	7	1116	c.1098A>G	c.(1096-1098)gcA>gcG	p.A366A	PDIA2_ENST00000404312.1_Silent_p.A363A	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	366					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCTGCCATGCAGTCCTCAACG	0.592000													8	29					0	0	0.003080	0	0
ZNF813	126017	broad.mit.edu	37	19	53994339	53994339	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:53994339T>A	ENST00000396403.4	+	4	981	c.853T>A	c.(853-855)Tcc>Acc	p.S285T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGACGTATTCCCTTACATG	0.413000													8	18					0	0	0.006214	0	0
NPR1	4881	broad.mit.edu	37	1	153661494	153661494	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153661494A>C	ENST00000368680.3	+	16	2955	c.2483A>C	c.(2482-2484)gAg>gCg	p.E828A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	828					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACAATCTGGAGGAACTGGTG	0.622000													51	165					0	0	0.003610	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873720	74873720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:74873720C>T	ENST00000289575.5	+	2	432	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_5'UTR|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000454962.2_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	13					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGAGGTACCCCAGGTACCAGA	0.552000													163	97					0	0	0.003610	0	0
TENM4	26011	broad.mit.edu	37	11	78412982	78412982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:78412982C>T	ENST00000278550.7	-	28	5138	c.4676G>A	c.(4675-4677)cGa>cAa	p.R1559Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AAACCGAATTCGGATGTTCCC	0.493000													20	48					0	0	0.001882	0	0
ABCA2	20	broad.mit.edu	37	9	139912294	139912294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139912294G>A	ENST00000265662.5	-	16	2303	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	ABCA2_ENST00000371605.3_Missense_Mutation_p.S718F|ABCA2_ENST00000341511.6_Missense_Mutation_p.S719F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	718					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATGGCCACGGAGTAGACCCA	0.672000													5	31					0	0	0.004482	0	0
PRDM16	63976	broad.mit.edu	37	1	3319466	3319466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:3319466G>A	ENST00000378398.3	+	7	873	c.791G>A	c.(790-792)gGc>gAc	p.G264D	PRDM16_ENST00000514189.1_Missense_Mutation_p.G264D|PRDM16_ENST00000378391.2_Missense_Mutation_p.G263D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.G264D|PRDM16_ENST00000441472.2_Missense_Mutation_p.G263D|PRDM16_ENST00000442529.2_Missense_Mutation_p.G263D|PRDM16_ENST00000270722.5_Missense_Mutation_p.G263D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	263					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCTACGAGGGCCTGGCTGAG	0.632000			T	EVI1	"""MDS, AML"""								65	7					0	0	0.003610	0	0
CDH11	1009	broad.mit.edu	37	16	64981872	64981872	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:64981872G>A	ENST00000268603.4	-	13	2640	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	CDH11_ENST00000566827.1_Silent_p.A549A|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	675					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATATCAAAGGCTTCTGTGT	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			67	57					0	0	0.003610	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374535	8374535	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8374535C>T	ENST00000538603.1	-	7	1836	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	FAM90A1_ENST00000307435.6_Silent_p.Q426Q	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	426							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CATGAGGGCTCTGAGCGAGGA	0.597000													4	33					0	0	0.000602	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174023	74174023	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74174023C>T	ENST00000300504.2	+	3	290	c.207C>T	c.(205-207)ttC>ttT	p.F69F	TBC1D21_ENST00000535547.2_Silent_p.F33F|TBC1D21_ENST00000562056.1_Silent_p.F69F	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	69	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTGGAAATTCCTCACGGGCT	0.597000													8	15					0	0	0.000673	0	0
NFX1	4799	broad.mit.edu	37	9	33347041	33347041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:33347041C>T	ENST00000379540.3	+	15	2412	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y	NFX1_ENST00000318524.6_Missense_Mutation_p.H784Y|NFX1_ENST00000379521.4_Missense_Mutation_p.H784Y	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	784					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGCAGTATATCATTCTTGTCA	0.388000													12	13					0	0	0.001855	0	0
KCNS2	3788	broad.mit.edu	37	8	99441007	99441007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:99441007C>T	ENST00000287042.4	+	2	1150	c.800C>T	c.(799-801)tCc>tTc	p.S267F	KCNS2_ENST00000521839.1_Missense_Mutation_p.S267F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	267						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCTCATGTCCATCGTCCCC	0.537000													41	148					0	0	0.002852	0	0
FGF17	8822	broad.mit.edu	37	8	21905469	21905469	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:21905469C>T	ENST00000359441.3	+	5	863	c.360C>T	c.(358-360)ccC>ccT	p.P120P	FGF17_ENST00000518533.1_Silent_p.P109P|FGF17_ENST00000521709.1_3'UTR	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	120					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCCCGCAGCCCAGCGGGAAGA	0.592000													6	41					0	0	0.003080	0	0
CNGA3	1261	broad.mit.edu	37	2	99013037	99013037	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:99013037C>T	ENST00000393504.1	+	8	1821	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	CNGA3_ENST00000436404.2_Silent_p.I450I|CNGA3_ENST00000409937.1_Silent_p.I472I|CNGA3_ENST00000272602.2_Silent_p.I468I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	468					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGGCTGAGATCGCCATCAACG	0.587000													7	13					0	0	0.001984	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110049	37110049	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:37110049C>T	ENST00000430593.3	-	0	611					NR_027320.1																						AATTGGTCTTCGAGGCTAGGT	0.408000													6	29					0	0	0.001984	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805845	44805845	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44805845C>T	ENST00000309315.4	+	17	2448	c.2325C>T	c.(2323-2325)acC>acT	p.T775T	ZMIZ2_ENST00000441627.1_Silent_p.T775T|ZMIZ2_ENST00000265346.7_Silent_p.T749T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.T717T|ZMIZ2_ENST00000433667.1_Silent_p.T743T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	775	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGAGTTCACCCCGGGACCAC	0.622000													20	58					0	0	0.001523	0	0
VWA3B	200403	broad.mit.edu	37	2	98834478	98834478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98834478C>T	ENST00000477737.1	+	14	2210	c.2006C>T	c.(2005-2007)cCa>cTa	p.P669L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	669	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCACTCCCCCAGAGGCTGTT	0.458000													6	32					0	0	0.001984	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531420	140531420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140531420C>T	ENST00000231136.1	+	1	1582	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		528	Cadherin 5.				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)			TTTCGAGTTCCGCGTGGGCGC	0.657000													38	59					0	0	0.001951	0	0
AGXT	189	broad.mit.edu	37	2	241808435	241808435	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:241808435G>A	ENST00000307503.3	+	1	540	c.153G>A	c.(151-153)aaG>aaA	p.K51K		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	51					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCATGAGCAAGGATATGTACC	0.637000													40	62					0	0	0.003610	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677000													96	173					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179641338	179641338	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179641338G>A	ENST00000589042.1	-	28	5477	c.5253C>T	c.(5251-5253)ctC>ctT	p.L1751L	TTN_ENST00000591111.1_Silent_p.L1751L|TTN_ENST00000342992.6_Silent_p.L1751L|TTN_ENST00000359218.5_Silent_p.L1705L|TTN_ENST00000360870.5_Silent_p.L1751L|TTN_ENST00000460472.2_Silent_p.L1705L|TTN_ENST00000342175.6_Silent_p.L1705L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1505	Ig-like 8.						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)			TGATCATACGGAGCCTGTTGG	0.483000													5	8					0	0	0.001168	0	0
PLCB1	23236	broad.mit.edu	37	20	8713928	8713928	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:8713928G>A	ENST00000378641.3	+	19	2407	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G	PLCB1_ENST00000338037.6_Silent_p.G644G|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.G644G	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	644	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATACAACGGGAAGAGTGGCT	0.413000													29	91					0	0	0.006320	0	0
SSTR2	6752	broad.mit.edu	37	17	71165806	71165806	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:71165806G>A	ENST00000357585.2	+	2	717	c.348G>A	c.(346-348)cgG>cgA	p.R116R	SSTR2_ENST00000315332.2_Silent_p.R116R|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	116					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CCATTTGCCGGGTGGTCATGA	0.557000													34	29					0	0	0.004289	0	0
TRMT2B	79979	broad.mit.edu	37	X	100291974	100291974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:100291974C>T	ENST00000338687.7	-	5	1197	c.392G>A	c.(391-393)gGa>gAa	p.G131E	TRMT2B_ENST00000372931.5_Missense_Mutation_p.G176E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.G176E|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G176E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G131E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G176E|TRMT2B_ENST00000478422.1_5'UTR			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	176							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCTCCAAGTTCCCAGGTAGAA	0.478000													12	40					0	0	0.001855	0	0
PRDM1	639	broad.mit.edu	37	6	106553274	106553274	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:106553274C>T	ENST00000369096.4	+	5	1473	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	PRDM1_ENST00000369089.3_Silent_p.F279F|PRDM1_ENST00000369091.2_Silent_p.F377F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	413					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCCCAAGTTCCTCTTGCCCC	0.597000			"""D, N, Mis, F, S"""		DLBCL								41	4					0	0	0.006230	0	0
UBE2E1	7324	broad.mit.edu	37	3	23848885	23848885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:23848885C>T	ENST00000306627.3	+	2	344	c.125C>T	c.(124-126)tCc>tTc	p.S42F	UBE2E1_ENST00000346855.3_Missense_Mutation_p.S42F	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						AGCAAAAACTCCAAACTCCTC	0.493000													24	64					0	0	0.005443	0	0
DCAF13	25879	broad.mit.edu	37	8	104447900	104447900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:104447900C>T	ENST00000297579.5	+	8	1565	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	278					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGTAATGGTCCATATGGATCA	0.373000													16	29					0	0	0.001216	0	0
USP29	57663	broad.mit.edu	37	19	57640948	57640948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57640948C>T	ENST00000254181.4	+	4	1359	c.905C>T	c.(904-906)tCg>tTg	p.S302L	USP29_ENST00000598197.1_Missense_Mutation_p.S302L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	302					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTTACAATCGCTATTTGCA	0.453000													17	52					0	0	0.006122	0	0
PRR23B	389151	broad.mit.edu	37	3	138738914	138738914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:138738914G>A	ENST00000329447.5	-	1	854	c.590C>T	c.(589-591)cCc>cTc	p.P197L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	197	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGAGCACAGGGTTCTGGGAT	0.632000													29	62					0	0	0.001512	0	0
GABRG3	2567	broad.mit.edu	37	15	27777961	27777961	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:27777961G>A	ENST00000333743.6	+	10	1592	c.1338G>A	c.(1336-1338)cgG>cgA	p.R446R	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R446R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CGTACTCCCGGGTCTTTTTCC	0.478000													27	28					0	0	0.001512	0	0
GMPPB	29925	broad.mit.edu	37	3	49760828	49760828	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49760828C>A	ENST00000480687.1	-	3	323	c.207G>T	c.(205-207)caG>caT	p.Q69H	GMPPB_ENST00000308388.6_Missense_Mutation_p.Q69H|GMPPB_ENST00000308375.6_Missense_Mutation_p.Q69H|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	69					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCACCCTCTGCTCCTGTG	0.612000													25	66					6.32553e-13	1.27504e-12	0.004656	1	0
HRC	3270	broad.mit.edu	37	19	49657765	49657765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:49657765C>T	ENST00000252825.4	-	1	916	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	HRC_ENST00000595625.1_Missense_Mutation_p.E244K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	244	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcatcttcttcatGGCCTTGG	0.522000													14	36					0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	38937178	38937178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38937178C>T	ENST00000355481.4	+	8	829	c.698C>T	c.(697-699)tCc>tTc	p.S233F	RYR1_ENST00000360985.3_Missense_Mutation_p.S233F|RYR1_ENST00000359596.3_Missense_Mutation_p.S233F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	233	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGACCATTTCCCCTGCTGAC	0.587000													20	67					0	0	0.001882	0	0
CCNA1	8900	broad.mit.edu	37	13	37011825	37011825	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:37011825G>A	ENST00000418263.1	+	3	704	c.354G>A	c.(352-354)aaG>aaA	p.K118K	CCNA1_ENST00000440264.1_Silent_p.K75K|CCNA1_ENST00000449823.1_Silent_p.K75K|CCNA1_ENST00000255465.4_Silent_p.K119K|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	119					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGCTGGAAAGAAAGCACTCC	0.488000													24	56					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9066420	9066420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9066420G>A	ENST00000397910.4	-	3	21229	c.21026C>T	c.(21025-21027)tCc>tTc	p.S7009F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7011	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTCTTGTGGATATTTCTGG	0.517000													22	86					0	0	0.004656	0	0
ADCY9	115	broad.mit.edu	37	16	4016886	4016886	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4016886G>A	ENST00000294016.3	-	11	3490	c.2952C>T	c.(2950-2952)ctC>ctT	p.L984L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	984					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAAAGAAGACGAGAACCACCT	0.592000													51	94					0	0	0.003610	0	0
HBG2	3048	broad.mit.edu	37	11	5275625	5275625	+	Missense_Mutation	SNP	G	G	A	rs151258456		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5275625G>A	ENST00000380259.2	-	7	1452	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG2_ENST00000380252.1_Missense_Mutation_p.S61F|HBG2_ENST00000336906.4_Missense_Mutation_p.S71F					hemoglobin, gamma G									p.S71F(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCCAAGGAAGTCAGCAC	0.532000													16	30					0	0	0.004007	0	0
ICA1L	130026	broad.mit.edu	37	2	203690476	203690476	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:203690476A>G	ENST00000392237.2	-	4	334	c.177T>C	c.(175-177)gtT>gtC	p.V59V	ICA1L_ENST00000358299.2_Silent_p.V59V|ICA1L_ENST00000418208.1_Intron|ICA1L_ENST00000425178.1_Silent_p.V59V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	59	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGTCTCTTGAACAGAGTGAA	0.299000													165	330					0	0	0.003610	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363408	4363408	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4363408G>A	ENST00000269886.3	-	7	865	c.687C>T	c.(685-687)gcC>gcT	p.A229A	SH3GL1_ENST00000417295.2_Silent_p.A181A|SH3GL1_ENST00000598564.1_Silent_p.A165A	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	229	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GGATCTGCACGGCCTGCCGGT	0.667000			T	MLL	AL								11	17					0	0	0.001855	0	0
SEMG1	6406	broad.mit.edu	37	20	43836048	43836048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:43836048C>T	ENST00000372781.3	+	2	167	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SEMG1_ENST00000244069.6_Missense_Mutation_p.S37F	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGTGAATTTTCCCAATTTCCA	0.403000													28	93					0	0	0.002836	0	0
HMHA1	23526	broad.mit.edu	37	19	1079801	1079801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1079801C>T	ENST00000313093.2	+	12	1705	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	HMHA1_ENST00000536472.1_Nonsense_Mutation_p.Q332*|HMHA1_ENST00000586866.1_Nonsense_Mutation_p.Q496*|HMHA1_ENST00000539243.2_Nonsense_Mutation_p.Q508*|HMHA1_ENST00000543365.1_Nonsense_Mutation_p.Q375*|HMHA1_ENST00000590214.1_Nonsense_Mutation_p.Q519*|HMHA1_ENST00000590577.1_Nonsense_Mutation_p.Q127*	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	492					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GCGGCAGATCCAGGAGGTCAT	0.692000													20	69					0	0	0.001882	0	0
OR5H15	403274	broad.mit.edu	37	3	97887585	97887585	+	Silent	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:97887585C>G	ENST00000356526.2	+	1	42	c.42C>G	c.(40-42)ctC>ctG	p.L14L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AGTTTGTTCTCACAGGATTTT	0.393000													4	6					0	0	0.001984	0	0
ATP8B1	5205	broad.mit.edu	37	18	55335748	55335748	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:55335748C>G	ENST00000536015.1	-	19	2241	c.2122G>C	c.(2122-2124)Gac>Cac	p.D708H	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D708H	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	708					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTAGCTTGTCTTCAATAGCT	0.358000													29	16					0	0	0.001512	0	0
TCAIM	285343	broad.mit.edu	37	3	44434414	44434414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:44434414G>A	ENST00000342649.4	+	6	1067	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	TCAIM_ENST00000417237.1_Missense_Mutation_p.E214K	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		ACTTAGAAAAGAACTAGATCG	0.323000													38	88					0	0	0.006230	0	0
SOX13	9580	broad.mit.edu	37	1	204085649	204085649	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204085649C>T	ENST00000367204.1	+	5	542	c.433C>T	c.(433-435)Cta>Tta	p.L145L	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	145					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAAGAGAGCCTAGCAGAGAA	0.527000													25	64					0	0	0.006320	0	0
PIGO	84720	broad.mit.edu	37	9	35095417	35095417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:35095417G>A	ENST00000378617.3	-	2	540	c.146C>T	c.(145-147)tCc>tTc	p.S49F	PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Missense_Mutation_p.S49F|PIGO_ENST00000298004.5_Missense_Mutation_p.S49F|PIGO_ENST00000361778.2_Missense_Mutation_p.S49F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	49					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATGGCAGGGACCCAGGGCC	0.597000													9	21					0	0	0.000673	0	0
DDX54	79039	broad.mit.edu	37	12	113617047	113617047	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:113617047G>A	ENST00000314045.7	-	4	492	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DDX54_ENST00000306014.5_Silent_p.F155F	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	155	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGCCGCTCGAACATTGGGA	0.652000													14	39					0	0	0.004007	0	0
ILDR2	387597	broad.mit.edu	37	1	166926021	166926021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:166926021G>A	ENST00000271417.3	-	3	503	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ILDR2_ENST00000529071.1_Missense_Mutation_p.P150S|ILDR2_ENST00000469934.2_Missense_Mutation_p.P150S|ILDR2_ENST00000528703.1_Missense_Mutation_p.P150S|ILDR2_ENST00000529387.1_Missense_Mutation_p.P150S|ILDR2_ENST00000526687.1_Missense_Mutation_p.P150S|ILDR2_ENST00000525740.1_Missense_Mutation_p.P150S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	150	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGTCATCTGGGGTGGTGATA	0.438000													24	42					0	0	0.003330	0	0
HTATSF1	27336	broad.mit.edu	37	X	135591303	135591303	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135591303G>A	ENST00000535601.1	+	8	1310	c.888G>A	c.(886-888)tcG>tcA	p.S296S	HTATSF1_ENST00000218364.4_Silent_p.S296S	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	296	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAGAGTGTTCGAAGTTTGGAC	0.383000													10	46					0	0	0.001368	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622590	31622590	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:31622590G>A	ENST00000349552.1	+	4	324	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	108						extracellular region	lipid binding										GGAACATGGAGATCATCGTGG	0.592000													26	112					0	0	0.007291	0	0
GAGE10	643832	broad.mit.edu	37	X	49161358	49161358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49161358C>T	ENST00000407599.3	+	2	113	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	7										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CGAGGAAGATCGACCTATCGG	0.453000													124	233					0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47685847	47685847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:47685847C>T	ENST00000273857.4	-	7	921	c.922G>A	c.(922-924)Gag>Aag	p.E308K	CORIN_ENST00000504584.1_Missense_Mutation_p.E308K|CORIN_ENST00000505909.1_Missense_Mutation_p.E308K|CORIN_ENST00000508498.1_Missense_Mutation_p.E169K|CORIN_ENST00000502252.1_Missense_Mutation_p.E241K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	308	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AACAGATTCTCGCTGCAGTCT	0.433000													12	9					0	0	0.001368	0	0
WEE2	494551	broad.mit.edu	37	7	141408878	141408878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141408878G>A	ENST00000397541.2	+	1	726	c.320G>A	c.(319-321)aGt>aAt	p.S107N	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	107					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTGCTGCCCAGTGACAGCCCC	0.522000													18	55					0	0	0.006122	0	0
MT2A	4502	broad.mit.edu	37	16	56642584	56642584	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:56642584C>A	ENST00000245185.5	+	1	474	c.17C>A	c.(16-18)tCc>tAc	p.S6Y	MT2A_ENST00000563985.1_3'UTR|MT2A_ENST00000561491.1_Missense_Mutation_p.S6Y	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	6	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						CCCAACTGCTCCTGCGCCGCC	0.597000													26	57					3.99451e-17	8.07148e-17	0.001786	1	0
STXBP2	6813	broad.mit.edu	37	19	7709610	7709610	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7709610C>T	ENST00000441779.2	+	14	1288	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	STXBP2_ENST00000414284.2_Silent_p.V403V|STXBP2_ENST00000221283.5_Silent_p.V406V	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	406					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGATCCGGGTCCTGCTGCTCT	0.622000													14	75					0	0	0.003163	0	0
PDE9A	5152	broad.mit.edu	37	21	44151975	44151975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:44151975G>A	ENST00000291539.6	+	5	418	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.E79K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E94K|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.E53K|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	120					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCCCGGAGGGAAGGAGCATT	0.622000													11	92					0	0	0.000673	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:125261995C>T	ENST00000431078.1	+	8	1550	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	396	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)		TTTCCAGTTTCGAACATGGAA	0.552000													5	9					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	215848525	215848525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:215848525C>T	ENST00000366943.2	-	63	13114	c.12728G>A	c.(12727-12729)tGg>tAg	p.W4243*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W4243*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4243	Fibronectin type-III 27.				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)		AGCTGAATTCCAAGTGTAGAT	0.398000										HNSCC(13;0.011)			4	13					0	0	0.000248	0	0
ATG2A	23130	broad.mit.edu	37	11	64678368	64678368	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64678368G>C	ENST00000421419.2	-	11	1639	c.1525C>G	c.(1525-1527)Cgg>Ggg	p.R509G	ATG2A_ENST00000377264.3_Missense_Mutation_p.R509G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	509							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTGGTTGTCCGCCGGCCCCGA	0.672000													12	6					0	0	0.003163	0	0
ZNF546	339327	broad.mit.edu	37	19	40520495	40520495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40520495C>T	ENST00000347077.4	+	7	1534	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	ZNF546_ENST00000600094.1_Missense_Mutation_p.P414S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	440					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(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAGAAACCCTATGAATG	0.398000													16	16					0	0	0.004007	0	0
SYTL2	54843	broad.mit.edu	37	11	85447646	85447646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:85447646G>A	ENST00000316356.4	-	6	1048	c.484C>T	c.(484-486)Ccg>Tcg	p.P162S	SYTL2_ENST00000528231.1_Missense_Mutation_p.P161S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P113S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P161S|SYTL2_ENST00000389960.4_Missense_Mutation_p.P161S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	161					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTATTAAACGGATTCTTCCTC	0.338000													22	56					0	0	0.002299	0	0
KCNB2	9312	broad.mit.edu	37	8	73850136	73850136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73850136G>A	ENST00000523207.1	+	3	3134	c.2546G>A	c.(2545-2547)gGc>gAc	p.G849D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	849					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.G849fs*14(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAGAAGAGGGCAGTGTGGGC	0.522000													13	34					0	0	0.002450	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206768	104206768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104206768G>A	ENST00000202556.9	-	12	2267	c.1985C>T	c.(1984-1986)aCc>aTc	p.T662I	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.T81I	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	662	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCTCTCCACGGTGCTGCCATC	0.657000													60	213					0	0	0.003610	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299075	125299075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:125299075C>T	ENST00000538699.1	-	2	913	c.833G>A	c.(832-834)gGa>gAa	p.G278E	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G278E	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	278										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGACACCGCTCCCAGCTCCTG	0.637000													28	60					0	0	0.002096	0	0
PAPD7	11044	broad.mit.edu	37	5	6752992	6752992	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:6752992T>C	ENST00000230859.6	+	12	1405	c.1276T>C	c.(1276-1278)Ttt>Ctt	p.F426L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	426					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTAGACCAGGTTTACTATACC	0.512000													31	65					0	0	0.003271	0	0
KIF21B	23046	broad.mit.edu	37	1	200956007	200956007	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200956007C>T	ENST00000332129.2	-	26	3970	c.3654G>A	c.(3652-3654)acG>acA	p.T1218T	KIF21B_ENST00000422435.2_Silent_p.T1218T|KIF21B_ENST00000360529.5_Silent_p.T1218T|KIF21B_ENST00000461742.2_Silent_p.T1218T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1218					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTCCTTCTCGTCAGCGGGG	0.547000													48	45					0	0	0.003610	0	0
POTEE	445582	broad.mit.edu	37	2	131976446	131976446	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:131976446C>T	ENST00000356920.5	+	1	565	c.471C>T	c.(469-471)ctC>ctT	p.L157L	POTEE_ENST00000358087.5_Silent_p.L157L|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	157							ATP binding										GAAAGGATCTCATCGTCATGC	0.577000													30	203					0	0	0.003755	0	0
GUCY2C	2984	broad.mit.edu	37	12	14769630	14769630	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:14769630T>C	ENST00000261170.3	-	25	3043	c.2907A>G	c.(2905-2907)atA>atG	p.I969M	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	969					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCAGGATGGCTATGGTGGAGC	0.428000													4	21					0	0	0.000602	0	0
OR1D5	8386	broad.mit.edu	37	17	2966866	2966866	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2966866G>A	ENST00000575751.1	-	1	35	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						CCAGGAGAAGGAACTGTGAGT	0.463000													7	1					0	0	0.003080	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372556	151372556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151372556G>A	ENST00000287878.4	-	4	1138	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	PRKAG2_ENST00000492843.1_Missense_Mutation_p.P88S|PRKAG2_ENST00000392801.2_Missense_Mutation_p.P168S|PRKAG2_ENST00000433631.2_Missense_Mutation_p.P88S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	212					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGCCTGGTCGGGCTCTGGAAG	0.617000													26	37					0	0	0.007291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763759	77763759	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:77763759C>T	ENST00000521891.2	+	10	5050	c.4602C>T	c.(4600-4602)ttC>ttT	p.F1534F	ZFHX4_ENST00000455469.2_Silent_p.F1489F|ZFHX4_ENST00000518282.1_Silent_p.F1508F|ZFHX4_ENST00000050961.6_Silent_p.F1489F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1489						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)			TGGAAAAATTCCTTGATCCAT	0.398000										HNSCC(33;0.089)			8	22					0	0	0.004482	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676684	7676684	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7676684G>A	ENST00000446248.2	+	13	1487	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	CAMSAP3_ENST00000160298.4_Silent_p.L435L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	435	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGGACAGCCTGGGCCCCCCGC	0.682000													10	17					0	0	0.006214	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580475	15580475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15580475C>T	ENST00000292609.4	-	4	1738	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D537N			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	537					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGCAGCAGGTCGAAGAGCGCG	0.726000													9	10					0	0	0.000978	0	0
TENM1	10178	broad.mit.edu	37	X	123514527	123514527	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:123514527C>T	ENST00000422452.2	-	32	8121	c.8058G>A	c.(8056-8058)ggG>ggA	p.G2686G	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G2679G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCTGCTTTTCCCCTTCTGTCC	0.507000													4	24					0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141731519	141731519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141731519C>T	ENST00000475668.2	+	13	1564	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	MGAM_ENST00000549489.2_Missense_Mutation_p.P504S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	504	Maltase.				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)	TTATACCAATCCCAACTGTGC	0.358000													14	15					0	0	0.003163	0	0
DSCAM	1826	broad.mit.edu	37	21	42080614	42080614	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:42080614G>A	ENST00000400454.1	-	2	604	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	43	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGGCACCAGAGTCCCCGTG	0.572000													86	112					0	0	0.003610	0	0
EEF2K	29904	broad.mit.edu	37	16	22237185	22237185	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:22237185C>T	ENST00000263026.5	+	2	609	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	45					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCACGGATGACCCAAGCTCGA	0.537000													11	19					0	0	0.000978	0	0
C22orf24	25775	broad.mit.edu	37	22	32333918	32333918	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32333918G>A	ENST00000248984.3	-	2	301	c.135C>T	c.(133-135)gtC>gtT	p.V45V	C22orf24_ENST00000543051.1_Silent_p.V112V|C22orf24_ENST00000486651.1_Intron	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	45						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						tTAACCAAGAGACAGCGTAGT	0.468000													32	91					0	0	0.001512	0	0
KRT28	162605	broad.mit.edu	37	17	38949420	38949420	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38949420C>T	ENST00000306658.7	-	7	1304	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	413	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGATGAATTCCCAGGGCTTC	0.333000													4	18					0	0	0.000248	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773662	68773662	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:68773662G>C	ENST00000309099.6	-	3	498	c.116C>G	c.(115-117)gCg>gGg	p.A39G	MRGPRF_ENST00000441623.1_Missense_Mutation_p.A39G	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCAGCATCGCGATCTGCTC	0.637000													22	69					0	0	0.004656	0	0
RIMS2	9699	broad.mit.edu	37	8	105263835	105263835	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:105263835C>T	ENST00000507740.1	+	22	3515	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I	RIMS2_ENST00000406091.3_Silent_p.I1279I|RIMS2_ENST00000262231.10_Silent_p.I1118I|RIMS2_ENST00000436393.2_Silent_p.I1297I|RIMS2_ENST00000339750.2_Silent_p.I215I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1341					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)			AACAGATCATCGTCTGGGGAG	0.358000										HNSCC(12;0.0054)			28	26					0	0	0.002836	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286189	11286189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:11286189G>A	ENST00000539585.1	-	1	1054	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTGGTGCTGGGATCTTGAGAT	0.413000													16	190					0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4920418	4920418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:4920418C>T	ENST00000433855.1	+	1	2077	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L	KCNA6_ENST00000280684.3_Missense_Mutation_p.S404L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	404						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GATGACGATTCGCTTTTTCCC	0.567000										HNSCC(72;0.22)			79	43					0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57579374	57579374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57579374G>A	ENST00000243077.3	+	41	6990	c.6524G>A	c.(6523-6525)cGt>cAt	p.R2175H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2175	EGF-like 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R2175H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACCGGGGCCGTGGGCAGCGG	0.692000													27	18					0	0	0.007291	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683336	84683336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:84683336C>T	ENST00000286744.5	+	24	4240	c.4016C>T	c.(4015-4017)tCt>tTt	p.S1339F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1339F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1339	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGAGGATCTCTGAGTGGC	0.428000													29	45					0	0	0.002836	0	0
FN1	2335	broad.mit.edu	37	2	216289873	216289873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:216289873C>T	ENST00000354785.4	-	7	1349	c.980G>A	c.(979-981)gGa>gAa	p.G327E	FN1_ENST00000346544.3_Missense_Mutation_p.G327E|FN1_ENST00000446046.1_Missense_Mutation_p.G327E|FN1_ENST00000345488.5_Missense_Mutation_p.G327E|FN1_ENST00000432072.2_Missense_Mutation_p.G327E|FN1_ENST00000443816.1_Missense_Mutation_p.G327E|FN1_ENST00000357867.4_Missense_Mutation_p.G327E|FN1_ENST00000356005.4_Missense_Mutation_p.G327E|FN1_ENST00000359671.1_Missense_Mutation_p.G327E|FN1_ENST00000336916.4_Missense_Mutation_p.G327E|FN1_ENST00000426059.1_Missense_Mutation_p.G327E|FN1_ENST00000323926.6_Missense_Mutation_p.G327E|FN1_ENST00000357009.2_Missense_Mutation_p.G327E|FN1_ENST00000421182.1_Missense_Mutation_p.G327E			P02751	FINC_HUMAN	fibronectin 1	327	Collagen-binding.|Fibronectin type-I 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCTTATTTCCTTGTGTCTT	0.502000													84	171					0	0	0.003610	0	0
NME8	51314	broad.mit.edu	37	7	37890317	37890317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:37890317G>A	ENST00000199447.4	+	5	550	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E60K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	60	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAACGAAGACGAAATTCTGCA	0.323000													7	19					0	0	0.001984	0	0
SIGLEC15	284266	broad.mit.edu	37	18	43422083	43422083	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43422083G>A	ENST00000389474.3	+	6	1135	c.918G>A	c.(916-918)caG>caA	p.Q306Q	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Silent_p.Q152Q	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	306						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCCAGGCCCAGGAGTCCAATT	0.537000													19	69					0	0	0.007413	0	0
NPY1R	4886	broad.mit.edu	37	4	164247358	164247358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:164247358G>A	ENST00000296533.2	-	2	880	c.349C>T	c.(349-351)Cct>Tct	p.P117S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	117					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCACAAAAGGATTCAACTTA	0.453000													12	21					0	0	0.001855	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067598	116067598	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:116067598T>A	ENST00000369271.3	-	10	1338	c.1038A>T	c.(1036-1038)tcA>tcT	p.S346S	AFAP1L2_ENST00000304129.4_Silent_p.S346S|AFAP1L2_ENST00000545353.1_Silent_p.S399S	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	346					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGGCTCCAGTGAGGTGGATT	0.507000													69	5					0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	63958636	63958636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:63958636G>A	ENST00000443617.2	-	41	8329	c.8242C>T	c.(8242-8244)Cct>Tct	p.P2748S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2748					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGAGGAGGAGGAGAAGTTGAA	0.428000													30	41					0	0	0.002445	0	0
MRPL27	51264	broad.mit.edu	37	17	48447414	48447414	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48447414G>A	ENST00000442592.3	-	3	255	c.219C>T	c.(217-219)ttC>ttT	p.F73F	MRPL27_ENST00000225969.4_Silent_p.F73F|MRPL27_ENST00000511860.1_Silent_p.F18F|MRPL27_ENST00000503633.1_Silent_p.F73F|MRPL27_ENST00000507088.1_Silent_p.F18F			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	73					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GGTGCCAGCGGAAATGGCGCT	0.502000													20	42					0	0	0.001523	0	0
SYN2	6854	broad.mit.edu	37	3	12211320	12211320	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:12211320G>A	ENST00000432424.2	+	0	1394							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACTCATCACCGAACTAGTCAT	0.557000													100	65					0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	22065976	22065976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:22065976G>A	ENST00000261200.4	-	6	840	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ABCC9_ENST00000261201.4_Missense_Mutation_p.R281W|ABCC9_ENST00000345162.2_Missense_Mutation_p.R281W	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	281					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)	GATGGAGTCCGATTTGGATGA	0.363000													9	17					0	0	0.000978	0	0
ADAM32	203102	broad.mit.edu	37	8	38994198	38994198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:38994198C>T	ENST00000379907.4	+	3	288	c.161C>T	c.(160-162)cCa>cTa	p.P54L	ADAM32_ENST00000437682.2_Missense_Mutation_p.P61L|ADAM32_ENST00000519315.1_Missense_Mutation_p.P54L	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	54					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATATTATTCCAATAGATGAG	0.269000													7	14					0	0	0.006214	0	0
PGM5	5239	broad.mit.edu	37	9	71094357	71094357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:71094357G>A	ENST00000396396.1	+	8	1412	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	395					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCGAGAGAAGGATGGCCTGTG	0.493000													46	121					0	0	0.003610	0	0
INPP5B	3633	broad.mit.edu	37	1	38328076	38328076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38328076G>A	ENST00000373023.2	-	24	2986	c.2893C>T	c.(2893-2895)Cga>Tga	p.R965*	INPP5B_ENST00000373024.3_Nonsense_Mutation_p.R885*|INPP5B_ENST00000373026.1_Nonsense_Mutation_p.R965*|INPP5B_ENST00000373027.1_Nonsense_Mutation_p.R721*	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	965	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTGGGTTTCGAAGCAATAAG	0.423000													46	59					0	0	0.003610	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147274	26147274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:26147274G>A	ENST00000331351.5	+	2	1468	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	359					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGTGGTGAGCGACTCATTGTG	0.498000													5	7					0	0	0.001168	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760695	186760695	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186760695C>T	ENST00000169298.3	+	4	878	c.204C>T	c.(202-204)acC>acT	p.T68T	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.T68T	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	68					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CAAGCAGCACCCAGGACCCCC	0.547000													7	22					0	0	0.003080	0	0
MIR495	574453	broad.mit.edu	37	14	101500107	101500107	+	RNA	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:101500107A>G	ENST00000385010.1	+	0	16					NR_030175.1																						CCTGAAAAGAAGTTGCCCATG	0.537000													40	40					0	0	0.001951	0	0
ATG16L2	89849	broad.mit.edu	37	11	72539442	72539442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:72539442G>A	ENST00000321297.5	+	15	1649	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	ATG16L2_ENST00000534905.1_Silent_p.P119P	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	504					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGCAGGGCCGGGTCACCTCC	0.617000													126	376					0	0	0.003610	0	0
CTDSP2	10106	broad.mit.edu	37	12	58223308	58223308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58223308G>A	ENST00000398073.2	-	2	439	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	46					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TGCTGGGCGCGAAAACAGCAG	0.527000													76	39					0	0	0.003610	0	0
MIR422A	494334	broad.mit.edu	37	15	64163137	64163137	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:64163137G>A	ENST00000362286.1	-	0	81					NR_029944.1																						gcccagggaggacaaagcttg	0.582000													30	23					0	0	0.001512	0	0
BRD8	10902	broad.mit.edu	37	5	137488410	137488410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:137488410G>A	ENST00000254900.5	-	21	2988	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	873					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCATTGGGATGATCTTGTTCA	0.453000													16	52					0	0	0.007413	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422075	1422075	+	Silent	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1422075C>G	ENST00000270349.9	-	5	835	c.708G>C	c.(706-708)ccG>ccC	p.P236P	SLC6A3_ENST00000453492.2_Silent_p.P236P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	236					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTGCCACCGCGGAGGCCCCA	0.662000													21	75					0	0	0.001882	0	0
PHF7	51533	broad.mit.edu	37	3	52457306	52457306	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52457306C>T	ENST00000327906.3	+	11	1779	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	PHF7_ENST00000478707.1_Silent_p.I373I|PHF7_ENST00000347025.2_Silent_p.I334I	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	373						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGTCAGAATCACTAACAGCT	0.517000													22	27					0	0	0.004656	0	0
OR13C3	138803	broad.mit.edu	37	9	107298641	107298641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:107298641G>A	ENST00000374781.2	-	1	496	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCCACATAACGATCAAATGCC	0.473000													13	18					0	0	0.003163	0	0
AUTS2	26053	broad.mit.edu	37	7	70252288	70252288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:70252288C>T	ENST00000342771.4	+	18	2723	c.2402C>T	c.(2401-2403)cCg>cTg	p.P801L	AUTS2_ENST00000406775.2_Missense_Mutation_p.P777L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	801										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAACGCCTCCGTCGTTCCCG	0.597000													15	42					0	0	0.004007	0	0
BCAT1	586	broad.mit.edu	37	12	25034321	25034321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:25034321G>A	ENST00000261192.7	-	4	830	c.304C>T	c.(304-306)Cga>Tga	p.R102*	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.R101*|BCAT1_ENST00000539282.1_Nonsense_Mutation_p.R114*|BCAT1_ENST00000539780.1_Intron	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	102					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCTACTCCTCGAAATGCCTTC	0.403000													6	24					0	0	0.001168	0	0
PRSS54	221191	broad.mit.edu	37	16	58314308	58314308	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:58314308C>T	ENST00000219301.4	-	7	1402	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Silent_p.R336R|PRSS54_ENST00000543437.1_Silent_p.R237R	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	336					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATCCTTCTCCCTAACATCTA	0.473000													11	46					0	0	0.000978	0	0
HECTD1	25831	broad.mit.edu	37	14	31597181	31597181	+	Silent	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:31597181A>C	ENST00000399332.1	-	26	5279	c.4791T>G	c.(4789-4791)ccT>ccG	p.P1597P	HECTD1_ENST00000553700.1_Silent_p.P1597P	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1597	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGTCAAATTAGGGAAACTCT	0.393000													5	28					0	0	0.001168	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175539	143175539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143175539C>T	ENST00000408916.1	+	1	574	c.574C>T	c.(574-576)Cct>Tct	p.P192S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGGTCAATTCCTTTTTCTGT	0.403000													19	21					0	0	0.007413	0	0
NPAP1	23742	broad.mit.edu	37	15	24923830	24923830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24923830G>A	ENST00000329468.2	+	1	3290	c.2816G>A	c.(2815-2817)aGc>aAc	p.S939N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGAGTGGCAGCATAATTCCA	0.488000													36	103					0	0	0.006230	0	0
SOX30	11063	broad.mit.edu	37	5	157065459	157065459	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:157065459G>A	ENST00000265007.6	-	4	2000	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	SOX30_ENST00000519442.1_Silent_p.A248A|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	553					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTGGCATGGGCAGTACTTG	0.522000													10	41					0	0	0.001855	0	0
FCAR	2204	broad.mit.edu	37	19	55385753	55385753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55385753C>T	ENST00000355524.3	+	1	18	c.8C>T	c.(7-9)cCc>cTc	p.P3L	FCAR_ENST00000391725.3_Missense_Mutation_p.P3L|FCAR_ENST00000391726.3_Missense_Mutation_p.P3L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.P3L|FCAR_ENST00000391723.3_Missense_Mutation_p.P3L|FCAR_ENST00000353758.4_Missense_Mutation_p.P3L|FCAR_ENST00000469767.1_Missense_Mutation_p.P3L|FCAR_ENST00000391724.3_Missense_Mutation_p.P3L|FCAR_ENST00000359272.4_Missense_Mutation_p.P3L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	3					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACGATGGACCCCAAACAGACC	0.478000													25	62					0	0	0.005443	0	0
POU5F2	134187	broad.mit.edu	37	5	93076968	93076968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:93076968G>A	ENST00000510627.4	-	1	375	c.302C>T	c.(301-303)cCg>cTg	p.P101L	FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-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;0.0415)|all cancers(79;2.03e-19)		GTAGGGCCCCGGGAGGGCGCC	0.637000													24	12					0	0	0.002299	0	0
HM13	81502	broad.mit.edu	37	20	30142633	30142633	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:30142633G>A	ENST00000335574.5	+	8	932		c.e8+1		HM13_ENST00000376127.3_Splice_Site|HM13_ENST00000340852.5_Splice_Site|HM13_ENST00000398174.3_Splice_Site|HM13_ENST00000492709.1_Splice_Site	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTCATTCCAGGTGAGCCTGCT	0.557000													15	63					0	0	0.004007	0	0
IDS	3423	broad.mit.edu	37	X	148585715	148585715	+	Missense_Mutation	SNP	C	C	T	rs113993954		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:148585715C>T	ENST00000340855.6	-	2	421	c.212G>A	c.(211-213)aGc>aAc	p.S71N	IDS_ENST00000428056.2_Missense_Mutation_p.S71N|IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.S71N|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370443.4_Missense_Mutation_p.S71N	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	71			S -> N (in MPS2; mild form).|S -> R (in MPS2; severe form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAAGAGGAGGCTGTGGGATGC	0.572000													6	29					0	0	0.001984	0	0
RRP7BP	91695	broad.mit.edu	37	22	42970719	42970719	+	RNA	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:42970719T>G	ENST00000357802.2	-	0	889																											CCTCCAGCCATCCACTGCGGC	0.652000													6	16					0	0	0.001984	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132827	42132827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:42132827G>A	ENST00000382448.4	+	8	890	c.881G>A	c.(880-882)aGc>aAc	p.S294N	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S63N|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S63N|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S294N	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		63	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGGAACCAGAGCTTTCACTTC	0.617000													55	70					0	0	0.003610	0	0
GPC6	10082	broad.mit.edu	37	13	94958287	94958287	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:94958287C>T	ENST00000377047.4	+	6	1677	c.1062C>T	c.(1060-1062)cgC>cgT	p.R354R		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	354						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCTGCCCGCTCAGCTCCTG	0.478000													44	111					0	0	0.002852	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353840	45353840	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:45353840C>T	ENST00000359271.2	+	2	415	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGCCTGCTCCTGGGGGCTC	0.592000													20	99					0	0	0.001882	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904963	73904963	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:73904963G>A	ENST00000342056.2	+	15	3080	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	KCNQ5_ENST00000355635.3_Silent_p.E876E|KCNQ5_ENST00000402622.2_Silent_p.E885E|KCNQ5_ENST00000414165.2_Silent_p.E765E|KCNQ5_ENST00000370398.1_Silent_p.E875E|KCNQ5_ENST00000403813.2_Silent_p.E866E|KCNQ5_ENST00000355194.4_Silent_p.E875E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	875					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTGATGAAGAGGTGGGTCCCG	0.493000													27	28					0	0	0.001786	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760694	186760694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186760694C>T	ENST00000169298.3	+	4	877	c.203C>T	c.(202-204)aCc>aTc	p.T68I	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.T68I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	68					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TCAAGCAGCACCCAGGACCCC	0.547000													7	21					0	0	0.003080	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189489	175189489	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:175189489G>A	ENST00000454872.1	+	9	1724	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	532					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTCCCATAAGGGGGAACTCTA	0.378000													7	8					0	0	0.000978	0	0
GPR112	139378	broad.mit.edu	37	X	135482252	135482252	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135482252T>C	ENST00000394143.1	+	21	8843	c.8552T>C	c.(8551-8553)cTt>cCt	p.L2851P	GPR112_ENST00000370652.1_Missense_Mutation_p.L2851P|GPR112_ENST00000412101.1_Missense_Mutation_p.L2646P|GPR112_ENST00000394141.1_Missense_Mutation_p.L2646P|GPR112_ENST00000287534.4_Missense_Mutation_p.L2604P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2851					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTATATCCTTAAATTTTGT	0.353000													16	44					0	0	0.003163	0	0
WWC1	23286	broad.mit.edu	37	5	167849095	167849095	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:167849095C>T	ENST00000265293.4	+	10	1769	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	WWC1_ENST00000521089.1_Silent_p.L423L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	423					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACTCCCAGCTGAAAAGGTG	0.577000													40	23					0	0	0.006999	0	0
CAPN11	11131	broad.mit.edu	37	6	44144731	44144731	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44144731C>T	ENST00000542245.1	+	11	1271	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	CAPN11_ENST00000398776.1_Silent_p.H411H			Q9UMQ6	CAN11_HUMAN	calpain 11	411	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAGGAACCACCCTGGTGGGT	0.652000													54	108					0	0	0.003610	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													8	56					0	0	0.000673	0	0
KIAA0319	9856	broad.mit.edu	37	6	24564560	24564560	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:24564560G>A	ENST00000535378.1	-	16	2916	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	KIAA0319_ENST00000430948.2_Silent_p.I722I|KIAA0319_ENST00000543707.1_Silent_p.I767I|KIAA0319_ENST00000378214.3_Silent_p.I767I|KIAA0319_ENST00000537886.1_Silent_p.I767I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	767	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGAGCCATCGATGACATCCT	0.547000													12	24					0	0	0.003163	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341875	46341875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:46341875G>A	ENST00000529193.1	+	11	1770	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.S440N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	440					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GATGGCCGCAGCACCCTGCTG	0.647000			T	FUS	myxofibrosarcoma								6	19					0	0	0.001168	0	0
TAGAP	117289	broad.mit.edu	37	6	159463142	159463142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:159463142C>T	ENST00000367066.3	-	5	614	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Intron|TAGAP_ENST00000338313.5_Missense_Mutation_p.G95S|RP1-111C20.4_ENST00000606470.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	95	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCACTGTCACCGCAGATAATT	0.468000													54	88					0	0	0.003610	0	0
FGF12	2257	broad.mit.edu	37	3	191888446	191888446	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:191888446C>T	ENST00000454309.2	-	4	1240		c.e4-1		FGF12_ENST00000445105.1_Splice_Site|FGF12_ENST00000430714.1_Splice_Site|FGF12_ENST00000450716.1_Splice_Site|FGF12_ENST00000264730.3_Splice_Site	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAAAACATCCTGTAGGAAAA	0.358000													14	24					0	0	0.001855	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988809	17988809	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:17988809C>T	ENST00000222248.3	+	7	1223	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	292					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGTTCCTGATCGTGTCCAGCG	0.627000													36	38					0	0	0.003755	0	0
FLG	2312	broad.mit.edu	37	1	152283592	152283592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152283592G>A	ENST00000368799.1	-	3	3805	c.3770C>T	c.(3769-3771)tCa>tTa	p.S1257L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1257	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCCGATGATTGTTCCTG	0.567000									Ichthyosis				64	69					0	0	0.003610	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211097	107211097	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:107211097C>T	ENST00000390636.2	-	0	271																											CAACCCACTCCAGCCCTTTCC	0.562000													28	45					0	0	0.001786	0	0
KCNG4	93107	broad.mit.edu	37	16	84271028	84271028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84271028G>A	ENST00000568181.1	-	2	184	c.64C>T	c.(64-66)Cct>Tct	p.P22S	KCNG4_ENST00000308251.4_Missense_Mutation_p.P22S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	22						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGACTCCAAGGGCTGTGGGAA	0.627000													26	32					0	0	0.004656	0	0
HTR5A	3361	broad.mit.edu	37	7	154863311	154863311	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:154863311G>A	ENST00000287907.2	+	1	1278	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	234						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGGGCTCCAGGAAGACCAATA	0.537000													38	59					0	0	0.005524	0	0
KIF26A	26153	broad.mit.edu	37	14	104639700	104639700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104639700G>A	ENST00000315264.7	+	8	1678	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	KIF26A_ENST00000423312.2_Missense_Mutation_p.A573T			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	573	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCACCCACGGCCGAGAAGGC	0.687000													6	16					0	0	0.001168	0	0
CHST4	10164	broad.mit.edu	37	16	71571108	71571108	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71571108C>T	ENST00000338482.5	+	3	871	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CHST4_ENST00000539698.3_Silent_p.L176L|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Silent_p.L176L|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	176					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACGTGGTGCTCAAGGAGGTGC	0.622000													6	19					0	0	0.003080	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144919	25144919	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25144919C>T	ENST00000332271.5	-	12	1820	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PIWIL3_ENST00000533313.1_Silent_p.P359P|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.P359P	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	468					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAACTCTTCCCGGGACGGACA	0.358000													12	41					0	0	0.001368	0	0
TRAV17	28666	broad.mit.edu	37	14	22466179	22466179	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22466179G>A	ENST00000390445.2	+	0	256																											CCAGGAGGGTGAAAATGCCAC	0.453000													10	12					0	0	0.000673	0	0
LY86	9450	broad.mit.edu	37	6	6625158	6625158	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:6625158G>A	ENST00000379953.2	+	3	488		c.e3-1		LY86_ENST00000230568.4_Splice_Site			O95711	LY86_HUMAN	lymphocyte antigen 86						apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTTCTTCGTAGATCCATTACA	0.274000													6	13					0	0	0.003080	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283571	151283571	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151283571G>A	ENST00000509345.2	-	0	765																											AAGATCACAGGAAAGCAGCGC	0.498000													28	53					0	0	0.002096	0	0
NACA	4666	broad.mit.edu	37	12	57109708	57109708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57109708C>T	ENST00000454682.1	-	3	5887	c.5606G>A	c.(5605-5607)gGa>gAa	p.G1869E	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.G716E|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	6					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						GACAGGGATTCCAGCAGATTT	0.557000			T	BCL6	NHL								40	83					0	0	0.002522	0	0
NINL	22981	broad.mit.edu	37	20	25460860	25460860	+	Silent	SNP	C	C	A	rs148838435		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:25460860C>A	ENST00000278886.6	-	15	1927	c.1854G>T	c.(1852-1854)acG>acT	p.T618T	NINL_ENST00000422516.1_Silent_p.T618T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	618					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCATCAGCTCCGTTTCTATAC	0.557000													6	96					0.00307968	0.00613492	0.003080	1	0
A2M	2	broad.mit.edu	37	12	9223141	9223141	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:9223141C>T	ENST00000318602.7	-	32	4444	c.4137G>A	c.(4135-4137)gcG>gcA	p.A1379A		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1379					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CATCAACGATCGCCATGTTGG	0.438000													12	13					0	0	0.002450	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521049	33521049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:33521049G>A	ENST00000297307.5	-	1	363	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	93	DUF6 1.					integral to membrane											TCCCAGAAGGGGGTCGCCACG	0.592000													142	97					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10296300	10296300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10296300C>T	ENST00000403437.2	-	37	5405	c.5311G>A	c.(5311-5313)Gag>Aag	p.E1771K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1771					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						TTCTTCAGCTCCTCAGCCATC	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				51	132					0	0	0.003610	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085135	134085135	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:134085135C>T	ENST00000514516.1	-	4	1528	c.1350G>A	c.(1348-1350)cgG>cgA	p.R450R	AMOTL2_ENST00000249883.5_Silent_p.R392R|AMOTL2_ENST00000422605.2_Silent_p.R392R|AMOTL2_ENST00000513145.1_Silent_p.R392R	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	392										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTCTAAGATCCCGGTTGAAGT	0.502000													190	323					0	0	0.003610	0	0
HOXC12	3228	broad.mit.edu	37	12	54348791	54348791	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:54348791C>T	ENST00000243103.3	+	1	174	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	26					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCTTCTACTTCCCCAACTTCC	0.672000													22	24					0	0	0.002299	0	0
DNAH3	55567	broad.mit.edu	37	16	21123095	21123095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21123095C>T	ENST00000261383.3	-	14	1950	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E651K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	651	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGCAATTTCATTTCTCCGT	0.468000													4	11					0	0	0.000248	0	0
ZNF419	79744	broad.mit.edu	37	19	58002917	58002917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58002917C>T	ENST00000424930.2	+	3	383	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	ZNF419_ENST00000518999.1_Missense_Mutation_p.L52F|ZNF419_ENST00000426954.2_Missense_Mutation_p.L39F|AC003005.4_ENST00000601674.1_Missense_Mutation_p.L38F|ZNF419_ENST00000354197.4_Missense_Mutation_p.L39F|ZNF419_ENST00000347466.6_Missense_Mutation_p.L52F|ZNF419_ENST00000221735.7_Missense_Mutation_p.L51F|ZNF419_ENST00000442920.2_Missense_Mutation_p.L38F|ZNF419_ENST00000415379.2_Missense_Mutation_p.L38F|ZNF419_ENST00000520540.1_Missense_Mutation_p.L39F	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCAGAGGCTCCTCTACCGCAA	0.532000													31	58					0	0	0.001786	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800709	70800709	+	Missense_Mutation	SNP	C	C	T	rs146773920	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:70800709C>T	ENST00000333538.5	+	2	1046	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	138						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGGATTATCGTCCCACCAA	0.463000													7	34					0	0	0.006214	0	0
N4BP3	23138	broad.mit.edu	37	5	177547690	177547690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:177547690C>T	ENST00000274605.5	+	3	1201	c.842C>T	c.(841-843)cCc>cTc	p.P281L		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	281						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGCTCCAACCCCTTCACGCAG	0.647000													9	21					0	0	0.000673	0	0
FLNB	2317	broad.mit.edu	37	3	58131715	58131715	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:58131715C>T	ENST00000357272.4	+	33	5658	c.5493C>T	c.(5491-5493)ctC>ctT	p.L1831L	FLNB_ENST00000358537.3_Silent_p.L1807L|FLNB_ENST00000295956.4_Silent_p.L1831L|FLNB_ENST00000490882.1_Silent_p.L1862L|FLNB_ENST00000419752.2_Silent_p.L1651L|FLNB_ENST00000348383.5_Silent_p.L1831L|FLNB_ENST00000429972.2_Silent_p.L1820L|FLNB_ENST00000493452.1_Silent_p.L1638L			O75369	FLNB_HUMAN	filamin B, beta	1831					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCCAGGCCTCGTGTATGGAG	0.507000													65	37					0	0	0.003610	0	0
PROM2	150696	broad.mit.edu	37	2	95940496	95940496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:95940496C>T	ENST00000317620.9	+	1	296	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.R55C|PROM2_ENST00000317668.4_Missense_Mutation_p.R55C|PROM2_ENST00000542147.1_Missense_Mutation_p.R55C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	55						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTCGAGTTCGTGCGCCAGG	0.662000													51	126					0	0	0.003610	0	0
TUBG2	27175	broad.mit.edu	37	17	40817554	40817554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40817554C>T	ENST00000251412.7	+	7	866	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	223					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CATCCAGAACCCGTCCTTCTC	0.597000													30	95					0	0	0.007291	0	0
NUP210	23225	broad.mit.edu	37	3	13420450	13420450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:13420450G>A	ENST00000254508.5	-	8	1089	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	336					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGTGCTGTTGGGTAACCTAGA	0.478000													36	101					0	0	0.006999	0	0
SYT13	57586	broad.mit.edu	37	11	45274151	45274151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:45274151C>T	ENST00000020926.3	-	4	778	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	223	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						ACCAGGCCCTCCTCCCAGGTG	0.662000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	64					0	0	0.003954	0	0
CDHR1	92211	broad.mit.edu	37	10	85971426	85971426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:85971426C>T	ENST00000372117.3	+	14	1611	c.1508C>T	c.(1507-1509)cCc>cTc	p.P503L	CDHR1_ENST00000332904.3_Missense_Mutation_p.P503L|CDHR1_ENST00000440770.2_Missense_Mutation_p.P207L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	503	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GATACAGGACCCTGGGGCGAA	0.567000													37	56					0	0	0.002522	0	0
SREBF1	6720	broad.mit.edu	37	17	17723568	17723568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17723568G>A	ENST00000355815.4	-	3	618	c.449C>T	c.(448-450)cCt>cTt	p.P150L	SREBF1_ENST00000338854.5_Missense_Mutation_p.P120L|SREBF1_ENST00000261646.5_Missense_Mutation_p.P120L|SREBF1_ENST00000435530.2_Missense_Mutation_p.P120L|SREBF1_ENST00000583732.1_Intron	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	120	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTTGATACCAGGCCCAGGGGA	0.677000													32	80					0	0	0.002836	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655330	38655330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38655330C>T	ENST00000222345.6	+	15	4501	c.3992C>T	c.(3991-3993)cCc>cTc	p.P1331L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1331					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)			GCTCCACGGCCCGCCAAGCCA	0.677000													5	23					0	0	0.001168	0	0
MYH2	4620	broad.mit.edu	37	17	10432155	10432155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10432155C>T	ENST00000245503.5	-	27	3980	c.3596G>A	c.(3595-3597)aGg>aAg	p.R1199K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1199					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGCTTCTTCCTCAGGGTGGC	0.552000													17	31					0	0	0.004990	0	0
C7	730	broad.mit.edu	37	5	40964898	40964898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:40964898G>A	ENST00000313164.9	+	14	2164	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	602	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGCAATGAAGGATACTCTCTT	0.398000													11	13					0	0	0.000673	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643270	3643270	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3643270G>A	ENST00000335312.3	-	13	1708	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	PIP5K1C_ENST00000589578.1_Silent_p.P540P|PIP5K1C_ENST00000537021.1_Silent_p.P540P|PIP5K1C_ENST00000539785.1_Silent_p.P540P	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	540					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGTCTCCGAGGGGGACCGCT	0.647000													63	104					0	0	0.003610	0	0
ZNF138	7697	broad.mit.edu	37	7	64291840	64291840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:64291840C>T	ENST00000359735.3	+	4	396	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	ZNF138_ENST00000397136.2_Missense_Mutation_p.R17C|ZNF138_ENST00000440155.2_Missense_Mutation_p.R48C|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.R74C|ZNF138_ENST00000494380.1_Silent_p.L119L|ZNF138_ENST00000437743.1_Missense_Mutation_p.R42C	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	48					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TCTGTGTTCTCGTTTTGCCCA	0.333000													20	87					0	0	0.001523	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091721	16091721	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:16091721C>T	ENST00000375766.3	+	3	883	c.243C>T	c.(241-243)ttC>ttT	p.F81F	FBLIM1_ENST00000441801.2_Silent_p.F81F|FBLIM1_ENST00000400773.1_Silent_p.F81F|FBLIM1_ENST00000375771.1_Silent_p.F81F|FBLIM1_ENST00000332305.5_Silent_p.F81F	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	81	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGCAGCTCTTCAATGGAGGTA	0.602000													16	16					0	0	0.004990	0	0
CES4A	283848	broad.mit.edu	37	16	67038014	67038014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:67038014G>A	ENST00000540947.2	+	9	1151	c.967G>A	c.(967-969)Gat>Aat	p.D323N	CES4A_ENST00000398354.1_Missense_Mutation_p.D323N|CES4A_ENST00000540579.1_Missense_Mutation_p.D225N|CES4A_ENST00000535696.1_Missense_Mutation_p.D229N|CES4A_ENST00000338718.4_Missense_Mutation_p.D346N|CES4A_ENST00000541479.1_Missense_Mutation_p.D346N|CES4A_ENST00000326686.5_Missense_Mutation_p.D323N	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	323						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCCTGTGGTGGATGGTGTGGT	0.542000													47	100					0	0	0.003610	0	0
UBR4	23352	broad.mit.edu	37	1	19439233	19439233	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:19439233C>T	ENST00000375267.2	-	78	11589	c.11586G>A	c.(11584-11586)ctG>ctA	p.L3862L	UBR4_ENST00000375254.3_Silent_p.L3862L|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Silent_p.L3855L|UBR4_ENST00000375226.2_Silent_p.L3838L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3862					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCCACAGCCCAGGACGGATA	0.582000													49	64					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237755154	237755154	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:237755154G>A	ENST00000366574.2	+	32	4592		c.e32+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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)			AACGTCCACGGTATGAGGTTG	0.388000													6	12					0	0	0.001984	0	0
METAP1	23173	broad.mit.edu	37	4	99962231	99962231	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:99962231T>A	ENST00000296411.6	+	6	604	c.470T>A	c.(469-471)aTt>aAt	p.I157N	METAP1_ENST00000544031.1_Missense_Mutation_p.I107N	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	157					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GCCGGCATGATTAAACCAGGT	0.338000													3	4					0	0	0.004672	0	0
AC096579.13	0	broad.mit.edu	37	2	89117819	89117819	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:89117819G>A	ENST00000452230.1	-	0	163																											TCCAAACAAGGAAGACAACAG	0.502000													4	8					0	0	0.000602	0	0
ITM2C	81618	broad.mit.edu	37	2	231740398	231740398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:231740398C>T	ENST00000326427.6	+	3	451	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000409704.2_Missense_Mutation_p.R47W|ITM2C_ENST00000335005.6_Missense_Mutation_p.R62W|ITM2C_ENST00000326407.6_Missense_Mutation_p.R109W	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	109					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTCCCAGGTCCGGACTCAGAT	0.582000													54	131					0	0	0.003610	0	0
ZNF396	252884	broad.mit.edu	37	18	32949371	32949371	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:32949371G>A	ENST00000306346.1	-	4	947	c.816C>T	c.(814-816)atC>atT	p.I272I	ZNF396_ENST00000589332.1_Silent_p.I272I	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	272					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTCCACTGTGGATTCTCTGAT	0.428000													75	47					0	0	0.003610	0	0
OR1L4	254973	broad.mit.edu	37	9	125486370	125486370	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125486370C>T	ENST00000259466.1	+	1	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCTTCCTCATCATGTACCTAC	0.507000													14	28					0	0	0.002450	0	0
UROC1	131669	broad.mit.edu	37	3	126216955	126216955	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126216955C>T	ENST00000290868.2	-	14	1430	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	UROC1_ENST00000383579.3_Silent_p.Q519Q	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	459					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCGCCAGGTCCTGGGGGTCCC	0.637000													120	90					0	0	0.003610	0	0
SYT16	83851	broad.mit.edu	37	14	62567374	62567374	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:62567374G>A	ENST00000430451.2	+	6	2084	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	629										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGGAGATGAAGGAAACCAAAG	0.498000													10	10					0	0	0.000978	0	0
PRRG3	79057	broad.mit.edu	37	X	150868529	150868529	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:150868529C>T	ENST00000370353.3	+	3	459	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PRRG3_ENST00000538575.1_Silent_p.F23F|PRRG3_ENST00000370354.1_Silent_p.F31F			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	23	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATGAGTTCCTGGAGGAGC	0.557000													29	71					0	0	0.002836	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427496	148427496	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:148427496G>A	ENST00000515425.1	-	3	309	c.208C>T	c.(208-210)Cta>Tta	p.L70L	SH3TC2_ENST00000512049.1_Silent_p.L70L|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	70							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)			GCTTCCTGTAGGGGTCCATTT	0.512000													54	27					0	0	0.003610	0	0
EXPH5	23086	broad.mit.edu	37	11	108381695	108381695	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:108381695T>A	ENST00000265843.4	-	6	4649	c.4539A>T	c.(4537-4539)gcA>gcT	p.A1513A	EXPH5_ENST00000428840.1_Silent_p.A1437A|EXPH5_ENST00000443411.1_Silent_p.A1325A|EXPH5_ENST00000525344.1_Silent_p.A1506A	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1513					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTTATGCAATGCTGGAGTAA	0.448000													20	51					0	0	0.002780	0	0
NEDD4L	23327	broad.mit.edu	37	18	56054695	56054695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:56054695G>A	ENST00000456986.1	+	27	2749	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	NEDD4L_ENST00000357895.5_Missense_Mutation_p.D830N|NEDD4L_ENST00000256832.7_Missense_Mutation_p.D698N|NEDD4L_ENST00000256830.9_Missense_Mutation_p.D734N|NEDD4L_ENST00000586263.1_Missense_Mutation_p.D810N|NEDD4L_ENST00000456173.2_Missense_Mutation_p.D697N|NEDD4L_ENST00000435432.2_Missense_Mutation_p.D697N|NEDD4L_ENST00000431212.2_Missense_Mutation_p.D717N|NEDD4L_ENST00000400345.3_Missense_Mutation_p.D838N|NEDD4L_ENST00000356462.6_Missense_Mutation_p.D774N|NEDD4L_ENST00000382850.4_Missense_Mutation_p.D818N|NEDD4L_ENST00000589054.1_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	838	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTTCCTATTGATTTGATTAA	0.249000													9	10					0	0	0.004482	0	0
LLGL2	3993	broad.mit.edu	37	17	73565333	73565333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:73565333C>T	ENST00000392550.3	+	14	1625	c.1508C>T	c.(1507-1509)cCc>cTc	p.P503L	LLGL2_ENST00000167462.5_Missense_Mutation_p.P503L|LLGL2_ENST00000577200.1_Missense_Mutation_p.P503L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	503					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTGATGACCCCCGGCTGGGC	0.672000													38	67					0	0	0.002522	0	0
RRN3P2	653390	broad.mit.edu	37	16	29088013	29088013	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:29088013C>T	ENST00000564580.1	+	0	183																											ATGATTTTTTCAATTCTCCCC	0.348000													20	42					0	0	0.004656	0	0
CDC25A	993	broad.mit.edu	37	3	48215915	48215915	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48215915G>A	ENST00000302506.3	-	9	1197	c.789C>T	c.(787-789)tcC>tcT	p.S263S	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Silent_p.S223S	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	263					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGCTACACAGGGAAGGGGAGT	0.468000													10	32					0	0	0.000673	0	0
PRG4	10216	broad.mit.edu	37	1	186276150	186276150	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:186276150G>A	ENST00000445192.2	+	7	1344	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	PRG4_ENST00000367485.4_Silent_p.K340K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K390K|PRG4_ENST00000367483.4_Silent_p.K392K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	433	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.657000													15	45					0	0	0.007413	0	0
CDHR2	54825	broad.mit.edu	37	5	176001113	176001113	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:176001113C>T	ENST00000510636.1	+	7	709	c.435C>T	c.(433-435)tcC>tcT	p.S145S	CDHR2_ENST00000506348.1_Silent_p.S145S|CDHR2_ENST00000261944.5_Silent_p.S145S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	145	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGTGTTCTCCGTGCTGGCCG	0.612000											OREG0017077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	26					0	0	0.001523	0	0
OTOA	146183	broad.mit.edu	37	16	21709178	21709178	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21709178G>A	ENST00000388958.3	+	9	823	c.822G>A	c.(820-822)acG>acA	p.T274T	OTOA_ENST00000286149.4_Silent_p.T274T|OTOA_ENST00000388956.4_Silent_p.T195T	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	274					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGAAATTACGAAAATTAGTC	0.358000													14	29					0	0	0.004990	0	0
MUC4	4585	broad.mit.edu	37	3	195498540	195498540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:195498540C>T	ENST00000463781.3	-	5	13684	c.13225G>A	c.(13225-13227)Ggg>Agg	p.G4409R	MUC4_ENST00000349607.4_Missense_Mutation_p.G122R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4409R|MUC4_ENST00000346145.4_Missense_Mutation_p.G173R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1166					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATGTGGTCCCCCGACCAGTG	0.597000													18	25					0	0	0.001523	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16842955	16842955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:16842955G>A	ENST00000261652.2	-	5	800	c.788C>T	c.(787-789)aCc>aTc	p.T263I	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T217I	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	263					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGTGGTCCTGGTGTGGCACCC	0.657000									IgA Deficiency, Selective				14	57					0	0	0.004990	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758302	99758302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99758302G>A	ENST00000360039.4	-	4	1102	c.710C>T	c.(709-711)cCc>cTc	p.P237L	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.P237L|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P136S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.P175L|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.P136S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	237					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCTGTGGGGGGTTGGGGTC	0.562000													82	270					0	0	0.003610	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511645	130511645	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:130511645G>A	ENST00000314830.8	-	5	1097	c.984C>T	c.(982-984)ctC>ctT	p.L328L	SH2D3C_ENST00000373276.3_Silent_p.L260L|SH2D3C_ENST00000373277.4_Silent_p.L171L|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Silent_p.L170L|SH2D3C_ENST00000373274.3_Silent_p.L168L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	328					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTGGCCTCGAGGTAGCGCA	0.652000													13	27					0	0	0.002450	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497234	134497234	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:134497234G>A	ENST00000372195.1	-	11	2097	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	RAPGEF1_ENST00000372189.3_Silent_p.S601S|RAPGEF1_ENST00000372190.3_Silent_p.S619S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	601					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTCCTGCACGGAGTCCACCC	0.597000													11	18					0	0	0.001855	0	0
NLRP2	55655	broad.mit.edu	37	19	55512131	55512131	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55512131G>A	ENST00000543010.1	+	13	3197	c.3054G>A	c.(3052-3054)ttG>ttA	p.L1018L	NLRP2_ENST00000427260.2_Silent_p.L995L|NLRP2_ENST00000391721.4_Silent_p.L994L|NLRP2_ENST00000537859.1_Silent_p.L996L|NLRP2_ENST00000263437.6_Silent_p.L1015L|NLRP2_ENST00000538819.1_Silent_p.L994L|NLRP2_ENST00000448584.2_Silent_p.L1018L|NLRP2_ENST00000339757.7_Silent_p.L996L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1018					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCAGGTTGAAAATCGATG	0.403000													20	62					0	0	0.002299	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48847417	48847417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48847417G>A	ENST00000376423.4	-	6	436	c.404C>T	c.(403-405)cCg>cTg	p.P135L	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P188L|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P143L|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.P188L	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	188						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTCTGCCAACGGCATGGGGGC	0.597000													17	59					0	0	0.006122	0	0
MLXIP	22877	broad.mit.edu	37	12	122611883	122611883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:122611883C>T	ENST00000319080.6	+	2	626	c.494C>T	c.(493-495)gCc>gTc	p.A165V				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	165	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCAATAATGCCATCTGGCGG	0.587000													10	25					0	0	0.006214	0	0
COL20A1	57642	broad.mit.edu	37	20	61937321	61937321	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:61937321G>A	ENST00000422202.1	+	4	494	c.426G>A	c.(424-426)ggG>ggA	p.G142G	COL20A1_ENST00000326996.6_Silent_p.G142G|COL20A1_ENST00000435874.1_Silent_p.G142G|COL20A1_ENST00000358894.6_Silent_p.G142G			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	142					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCACACGGGGAGCCCAGACC	0.642000													17	52					0	0	0.004007	0	0
MYT1	4661	broad.mit.edu	37	20	62839420	62839420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:62839420G>A	ENST00000536311.1	+	7	1235	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	MYT1_ENST00000328439.1_Missense_Mutation_p.E291K|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	291	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaggaggaagaggaaga	0.562000													10	30					0	0	0.000673	0	0
IDS	3423	broad.mit.edu	37	X	148568539	148568539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:148568539C>T	ENST00000340855.6	-	8	1306	c.1097G>A	c.(1096-1098)aGg>aAg	p.R366K	IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.R155K|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	366						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGAAGCCGTCCTTCCAGGAAC	0.478000													30	22					0	0	0.001786	0	0
PCSK1	5122	broad.mit.edu	37	5	95735809	95735809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:95735809C>T	ENST00000311106.3	-	10	1515	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.W379*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	426					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTCTTTTTCCATCCAGGGT	0.522000													24	69					0	0	0.005443	0	0
MAGI1	9223	broad.mit.edu	37	3	65376950	65376950	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:65376950G>A	ENST00000330909.8	-	14	2282	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	MAGI1_ENST00000497477.2_Silent_p.S761S|MAGI1_ENST00000483466.1_Silent_p.S761S|MAGI1_ENST00000402939.2_Silent_p.S761S	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	761					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTGCTGTGGCTTGGGGATG	0.517000													21	38					0	0	0.003330	0	0
ANK3	288	broad.mit.edu	37	10	61833570	61833570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:61833570C>T	ENST00000280772.1	-	37	7260	c.7069G>A	c.(7069-7071)Gaa>Aaa	p.E2357K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2357					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATACATTTCTTTTTCTGGA	0.393000													8	8					0	0	0.006214	0	0
F10	2159	broad.mit.edu	37	13	113795256	113795256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113795256G>A	ENST00000375559.3	+	5	432	c.394G>A	c.(394-396)Gac>Aac	p.D132N	F10_ENST00000409306.1_Missense_Mutation_p.D132N|F10_ENST00000375551.3_Missense_Mutation_p.D132N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	132	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGCCTGGACAACGGGGA	0.622000													59	43					0	0	0.003610	0	0
BAI1	575	broad.mit.edu	37	8	143558856	143558856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:143558856C>T	ENST00000517894.1	+	6	2227	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S	BAI1_ENST00000323289.5_Missense_Mutation_p.P445S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	445	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGGGGCAACCCCTGTGAGGG	0.647000													19	68					0	0	0.001216	0	0
ALPL	249	broad.mit.edu	37	1	21903933	21903933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:21903933G>A	ENST00000374840.3	+	12	1617	c.1367G>A	c.(1366-1368)gGg>gAg	p.G456E	ALPL_ENST00000540617.1_Missense_Mutation_p.G401E|ALPL_ENST00000539907.1_Missense_Mutation_p.G379E|ALPL_ENST00000425315.2_Missense_Mutation_p.G456E|ALPL_ENST00000374832.1_Missense_Mutation_p.G456E|ALPL_ENST00000374829.1_Missense_Mutation_p.G102E|ALPL_ENST00000374830.1_Missense_Mutation_p.G102E	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	456			G -> R (in HOPS; loss of activity).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	ACCCACGGCGGGGAGGACGTG	0.677000													15	22					0	0	0.004990	0	0
SCN2A	6326	broad.mit.edu	37	2	166172038	166172038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166172038G>A	ENST00000357398.3	+	11	1731	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R	SCN2A_ENST00000375427.2_Missense_Mutation_p.G481R|SCN2A_ENST00000283256.6_Missense_Mutation_p.G481R|SCN2A_ENST00000375437.2_Missense_Mutation_p.G481R			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	481					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGGTGGGATAGGAGTTTTTTC	0.423000													20	54					0	0	0.003330	0	0
CADM3	57863	broad.mit.edu	37	1	159163703	159163703	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159163703C>T	ENST00000368125.4	+	5	721	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CADM3_ENST00000368124.4_Silent_p.F222F	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	188	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTAAAACCTTCACTGTCAGCA	0.502000													8	45					0	0	0.003080	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241152	81241152	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:81241152G>A	ENST00000599697.1	-	5	848	c.849C>T	c.(847-849)aaC>aaT	p.N283N	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	283					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TACAGGACAGGTTTCCTATGT	0.483000													38	120					0	0	0.007835	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773387	140773387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140773387C>T	ENST00000398604.2	+	1	1007	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCATTTCGGTGGAAGAT	0.398000													108	247					0	0	0.003610	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821594	162821594	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:162821594G>C	ENST00000375514.5	+	23	3300	c.3013G>C	c.(3013-3015)Gac>Cac	p.D1005H	SLC4A10_ENST00000446997.1_Missense_Mutation_p.D1024H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D994H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D1024H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D994H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1024					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGTTGATGGACTTGTTGTT	0.373000													13	25					0	0	0.001855	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232843	6232843	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6232843A>G	ENST00000265978.4	-	12	3212	c.2854T>C	c.(2854-2856)Ttg>Ctg	p.L952L	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.L938L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	938					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCAGCCAACTCCTTGAGA	0.567000													98	62					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240497457	240497457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:240497457C>T	ENST00000319653.9	+	13	4923	c.4693C>T	c.(4693-4695)Ctt>Ttt	p.L1565F	FMN2_ENST00000545751.1_Missense_Mutation_p.L161F	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1565	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCAGGACCTTTTTCAGGC	0.353000													17	60					0	0	0.007413	0	0
PLXNB3	5365	broad.mit.edu	37	X	153037321	153037321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153037321C>T	ENST00000538543.1	+	8	764	c.665C>T	c.(664-666)tCg>tTg	p.S222L	PLXNB3_ENST00000538776.1_Silent_p.V493V|PLXNB3_ENST00000538282.1_Silent_p.V450V|PLXNB3_ENST00000361971.5_Silent_p.V840V|PLXNB3_ENST00000538966.1_Silent_p.V863V			Q9ULL4	PLXB3_HUMAN	plexin B3	0	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCAGGTCGAGCCCCTGA	0.701000													7	17					0	0	0.001984	0	0
FBXO34	55030	broad.mit.edu	37	14	55818527	55818527	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:55818527C>T	ENST00000313833.4	+	2	1664	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	FBXO34_ENST00000440021.1_Silent_p.S473S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	473										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTTTAAACTCCTGTGAAGACC	0.423000													10	37					0	0	0.000673	0	0
NR0B2	8431	broad.mit.edu	37	1	27239939	27239939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:27239939C>T	ENST00000254227.3	-	1	518	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	165	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCATATTCCTTGGGGCTA	0.632000													56	4					0	0	0.003610	0	0
CDS2	8760	broad.mit.edu	37	20	5157321	5157321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:5157321C>T	ENST00000460006.1	+	4	626	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	107					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						TAAGTGTTTCCATGAGATAAT	0.463000													23	76					0	0	0.004656	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923869	56923869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:56923869G>A	ENST00000559237.1	-	21	3411	c.2728C>T	c.(2728-2730)Cca>Tca	p.P910S	ZNF280D_ENST00000267807.7_Missense_Mutation_p.P923S	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	923					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ACCTCGGATGGAGTCAGAGGT	0.408000													37	40					0	0	0.004289	0	0
NEB	4703	broad.mit.edu	37	2	152418643	152418643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:152418643G>A	ENST00000397345.3	-	121	19179	c.18977C>T	c.(18976-18978)tCa>tTa	p.S6326L	NEB_ENST00000604864.1_Missense_Mutation_p.S6326L|NEB_ENST00000603639.1_Missense_Mutation_p.S6326L|NEB_ENST00000427231.2_Missense_Mutation_p.S6326L|NEB_ENST00000409198.1_Missense_Mutation_p.S4625L|NEB_ENST00000172853.10_Missense_Mutation_p.S4625L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6331					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGGTCGTATGATTTCTTGGC	0.483000													18	30					0	0	0.007413	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472612	47472612	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:47472612G>A	ENST00000266581.4	-	2	640	c.174C>T	c.(172-174)aaC>aaT	p.N58N	AMIGO2_ENST00000429635.1_Silent_p.N58N|AMIGO2_ENST00000550413.1_Silent_p.N58N|AMIGO2_ENST00000321382.3_Silent_p.N58N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	58	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCTTGGACAGGTTTTTGTTGG	0.517000													32	83					0	0	0.002096	0	0
ZMYM3	9203	broad.mit.edu	37	X	70468055	70468055	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:70468055C>T	ENST00000373998.1	-	11	2629	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	ZMYM3_ENST00000373984.3_Silent_p.E646E|ZMYM3_ENST00000353904.2_Silent_p.E644E|ZMYM3_ENST00000314425.5_Silent_p.E644E|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.E646E	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	644					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)					ATCGGAGTTTCTCATGCAAGA	0.547000													13	24					0	0	0.001368	0	0
BEX5	340542	broad.mit.edu	37	X	101409140	101409140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:101409140C>T	ENST00000543160.1	-	3	399	c.98G>A	c.(97-99)gGa>gAa	p.G33E	BEX5_ENST00000333643.3_Missense_Mutation_p.G33E	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	33						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTAACATTTCCTCCAGGCTC	0.498000													66	42					0	0	0.003610	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951664	88951664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:88951664C>T	ENST00000268679.4	-	7	1303	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.G278R|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.G217R|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.G217R|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.G227R	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	303	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGGTCTGACCCGTTCTCTTTG	0.667000			T	RUNX1	AML								7	23					0	0	0.003080	0	0
DHX9	1660	broad.mit.edu	37	1	182823237	182823237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:182823237C>T	ENST00000367549.3	+	6	660	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	184	DRBM 2.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGCTAAAGCTCGTCTAAACCA	0.368000													17	58					0	0	0.004007	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772559	145772559	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:145772559G>A	ENST00000276826.5	-	4	2112	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	ARHGAP39_ENST00000377307.2_Silent_p.S637S|ARHGAP39_ENST00000540274.1_Silent_p.S637S			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	637					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGTCTGCACGGAGACGCTCT	0.667000													6	36					0	0	0.004482	0	0
BCL9L	283149	broad.mit.edu	37	11	118769959	118769959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:118769959G>A	ENST00000334801.3	-	8	4629	c.3665C>T	c.(3664-3666)tCc>tTc	p.S1222F	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1222	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CATCTGGGAGGAGCTGGGCAC	0.711000													10	8					0	0	0.002450	0	0
ATP6AP1	537	broad.mit.edu	37	X	153662768	153662768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153662768C>T	ENST00000369762.2	+	7	960	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	300					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACTGGCTCCTTCTGGAAT	0.597000													67	38					0	0	0.003610	0	0
MVK	4598	broad.mit.edu	37	12	110012659	110012659	+	Missense_Mutation	SNP	C	C	T	rs104895309		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:110012659C>T	ENST00000228510.3	+	2	108	c.32C>T	c.(31-33)cCg>cTg	p.P11L	MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_3'UTR|MVK_ENST00000541384.1_5'UTR|MVK_ENST00000392727.3_Missense_Mutation_p.P11L|MVK_ENST00000539575.1_Missense_Mutation_p.P11L	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	11					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTGTCTGCTCCGGGGAAAGTC	0.493000													6	24					0	0	0.004482	0	0
ALPP	250	broad.mit.edu	37	2	233246398	233246398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233246398C>T	ENST00000392027.2	+	11	1770	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	501						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCTGGCGCCCCCCGCCGGCAC	0.736000													5	37					0	0	0.003080	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274437	98274437	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98274437G>A	ENST00000289228.5	-	8	1110	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	298						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTGAGAGCACGATGTTGGCGA	0.597000													24	69					0	0	0.004656	0	0
GAD2	2572	broad.mit.edu	37	10	26575279	26575279	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:26575279G>A	ENST00000376261.3	+	13	1745	c.1242G>A	c.(1240-1242)ttG>ttA	p.L414L	GAD2_ENST00000259271.3_Silent_p.L414L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	414					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGTAGGGATTGATGCAGAATT	0.358000													5	2					0	0	0.001168	0	0
SMCO4	56935	broad.mit.edu	37	11	93212344	93212344	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:93212344G>A	ENST00000298966.2	-	3	397	c.12C>T	c.(10-12)ctC>ctT	p.L4L	SMCO4_ENST00000525141.1_Silent_p.L4L|SMCO4_ENST00000527149.1_Silent_p.L4L	NM_020179.2	NP_064564.1			single-pass membrane protein with coiled-coil domains 4																		GCTTCCCTTTGAGCTGCCGCA	0.587000													30	74					0	0	0.004878	0	0
TLR5	7100	broad.mit.edu	37	1	223285357	223285357	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:223285357T>C	ENST00000540964.1	-	4	1478	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	TLR5_ENST00000342210.6_Silent_p.Q339Q			O60602	TLR5_HUMAN	toll-like receptor 5	339					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AATTGAGAACTTGGAGGTTGT	0.383000													75	84					0	0	0.003610	0	0
KCNT2	343450	broad.mit.edu	37	1	196205198	196205198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:196205198C>T	ENST00000367433.5	-	26	3243	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K	KCNT2_ENST00000294725.8_Missense_Mutation_p.E1072K|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E1006K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1072						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCATTCATTTCATCTAGAAGA	0.333000													80	95					0	0	0.003610	0	0
SPATA13	221178	broad.mit.edu	37	13	24864988	24864988	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:24864988G>C	ENST00000424834.2	+	11	3519	c.3046G>C	c.(3046-3048)Gcc>Ccc	p.A1016P	SPATA13_ENST00000399949.2_Missense_Mutation_p.A313P|SPATA13_ENST00000409126.1_Missense_Mutation_p.A251P|SPATA13_ENST00000382095.4_Missense_Mutation_p.A391P|SPATA13_ENST00000343003.6_Missense_Mutation_p.A335P|SPATA13_ENST00000382108.3_Missense_Mutation_p.A1016P			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	391					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCTGCAGCTGGCCGAGCTGCT	0.577000													8	17					0	0	0.004482	0	0
TTC26	79989	broad.mit.edu	37	7	138831982	138831982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138831982G>A	ENST00000464848.1	+	6	571	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	TTC26_ENST00000430935.1_Missense_Mutation_p.R164Q|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000343187.4_Missense_Mutation_p.R133Q|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000474035.2_Missense_Mutation_p.R164Q|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	164							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CACTATATGCGATCTCACTAC	0.358000													28	137					0	0	0.005443	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712801	70712801	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70712801G>A	ENST00000530196.1	-	0	1717					NR_003951.1																						GCAATTCTGAGATGCACTTTT	0.398000													26	83					0	0	0.001512	0	0
BNC1	646	broad.mit.edu	37	15	83932835	83932835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:83932835C>T	ENST00000345382.2	-	4	1253	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E383K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	390					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTACACCCTTCGATGGTGCAC	0.512000													25	24					0	0	0.003330	0	0
ACTG1	71	broad.mit.edu	37	17	79478941	79478941	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79478941C>T	ENST00000575842.1	-	2	777	c.351G>A	c.(349-351)gaG>gaA	p.E117E	ACTG1_ENST00000331925.2_Silent_p.E117E|ACTG1_ENST00000575087.1_Silent_p.E117E|ACTG1_ENST00000573283.1_Silent_p.E117E			P63261	ACTG_HUMAN	actin, gamma 1	117					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GAGTCATCTTCTCTCTGTTGG	0.592000													25	59					0	0	0.003954	0	0
C9orf152	401546	broad.mit.edu	37	9	112969850	112969850	+	Silent	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:112969850A>G	ENST00000400613.4	-	1	619	c.10T>C	c.(10-12)Ttg>Ctg	p.L4L		NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	4										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGGCAGGGCAACCCCTCCATC	0.647000													7	11					0	0	0.001984	0	0
E2F7	144455	broad.mit.edu	37	12	77449680	77449680	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:77449680G>A	ENST00000322886.7	-	3	559	c.324C>T	c.(322-324)ttC>ttT	p.F108F	E2F7_ENST00000416496.2_Silent_p.F108F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	108					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAATGGGTCGGAATAGTCCCT	0.443000													29	42					0	0	0.002096	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172522	207172522	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:207172522G>A	ENST00000374423.3	+	5	3656	c.3270G>A	c.(3268-3270)gcG>gcA	p.A1090A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1090							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCAGGAAGCGGTTAAAAAAA	0.308000													6	16					0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136569973	136569973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:136569973C>T	ENST00000264162.2	-	7	2271	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	754	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATGCCATTCCCGGCAAGGTA	0.443000													39	79					0	0	0.004878	0	0
MYH9	4627	broad.mit.edu	37	22	36712700	36712700	+	Silent	SNP	G	G	A	rs138436678	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:36712700G>A	ENST00000216181.5	-	12	1472	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	414	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCAAGGCCTCGATGGCAAAGT	0.572000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				24	76					0	0	0.004656	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122298	73122298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:73122298C>T	ENST00000373189.5	+	6	1413	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	454					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GTGGTGATGTCCTTTTATGTG	0.592000													23	32					0	0	0.003330	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857711	144857711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:144857711G>A	ENST00000369359.4	-	42	6789	c.6751C>T	c.(6751-6753)Cca>Tca	p.P2251S	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P2009S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P2115S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P2115S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P2200S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2115					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)		TCCCGGACTGGAGGGGACACA	0.537000			T	PDGFRB	MPD								22	31					0	0	0.002780	0	0
PEBP1	5037	broad.mit.edu	37	12	118582429	118582429	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:118582429A>G	ENST00000261313.2	+	4	737	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	129							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGCAGGACAGGCCGCTAAA	0.567000													6	15					0	0	0.001984	0	0
NFKB1	4790	broad.mit.edu	37	4	103533593	103533593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:103533593G>A	ENST00000226574.4	+	22	2889	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	NFKB1_ENST00000600343.1_Missense_Mutation_p.D627N|NFKB1_ENST00000505458.1_Missense_Mutation_p.D807N|NFKB1_ENST00000394820.4_Missense_Mutation_p.D807N	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	807	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCCTTCAGGAGACATGAAACA	0.468000													7	4					0	0	0.001984	0	0
MTL5	9633	broad.mit.edu	37	11	68518058	68518058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:68518058G>A	ENST00000443940.2	-	2	157	c.71C>T	c.(70-72)cCc>cTc	p.P24L	MTL5_ENST00000255087.5_Missense_Mutation_p.P24L|MTL5_ENST00000544963.1_Missense_Mutation_p.P24L			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	24					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGGACCCTCGGGGCTTAAGAG	0.697000													21	9					0	0	0.002299	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459497	107459497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:107459497C>T	ENST00000409382.3	-	2	1547	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E313K|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E313K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTACCTATTTCCTCGCCCAAG	0.667000													14	19					0	0	0.004990	0	0
SIGLEC15	284266	broad.mit.edu	37	18	43422084	43422084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43422084G>A	ENST00000389474.3	+	6	1136	c.919G>A	c.(919-921)Gag>Aag	p.E307K	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Missense_Mutation_p.E153K	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	307						integral to membrane		p.E307Q(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCAGGCCCAGGAGTCCAATTA	0.542000													20	74					0	0	0.001216	0	0
BCORL1	63035	broad.mit.edu	37	X	129148755	129148755	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129148755C>T	ENST00000540052.1	+	3	2051	c.2007C>T	c.(2005-2007)acC>acT	p.T669T	BCORL1_ENST00000303743.5_Silent_p.T669T|BCORL1_ENST00000218147.7_Silent_p.T669T|BCORL1_ENST00000359304.2_Silent_p.T669T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	669					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGCGCACAACCCAGGCTGCCG	0.632000													14	72					0	0	0.003163	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993015	192993015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:192993015C>T	ENST00000342358.4	-	30	3590	c.3473G>A	c.(3472-3474)aGg>aAg	p.R1158K	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1158					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGCCAAGTCCTATATTGACT	0.398000													15	49					0	0	0.004007	0	0
EDC4	23644	broad.mit.edu	37	16	67914078	67914078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:67914078C>T	ENST00000358933.5	+	17	2295	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	686					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGGCCTGCTCCCAGCCCCAGC	0.652000													10	38					0	0	0.001855	0	0
CKAP5	9793	broad.mit.edu	37	11	46772099	46772099	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:46772099G>A	ENST00000529230.1	-	41	5569	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CKAP5_ENST00000354558.3_Silent_p.G1781G|CKAP5_ENST00000415402.1_Silent_p.G1848G|CKAP5_ENST00000312055.5_Silent_p.G1781G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1841					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTCTTTAGAGCCAATCTTCT	0.383000													5	10					0	0	0.001984	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:71238544C>T	ENST00000398536.4	+	1	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	66	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G66G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652000													56	177					0	0	0.003610	0	0
STARD10	10809	broad.mit.edu	37	11	72466749	72466749	+	Silent	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:72466749G>T	ENST00000334805.6	-	6	1546	c.627C>A	c.(625-627)ccC>ccA	p.P209P	ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Silent_p.P163P|STARD10_ENST00000545082.1_Silent_p.P180P|STARD10_ENST00000543304.1_Silent_p.P209P	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	209	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CACTCACCTTGGGAGCCAGGA	0.592000													8	221					0.00448238	0.0089169	0.004482	1	0
DFNB31	25861	broad.mit.edu	37	9	117168671	117168671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:117168671C>T	ENST00000362057.3	-	9	2368	c.2200G>A	c.(2200-2202)Gac>Aac	p.D734N	DFNB31_ENST00000265134.6_Missense_Mutation_p.D351N|DFNB31_ENST00000374059.3_Missense_Mutation_p.D383N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	734					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCATTGACGTCTGGCTCGCTG	0.632000													36	109					0	0	0.001951	0	0
HTT	3064	broad.mit.edu	37	4	3174062	3174062	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:3174062C>T	ENST00000355072.5	+	30	4025	c.3880C>T	c.(3880-3882)Cta>Tta	p.L1294L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1294					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAGAGATCCTAGGATACCT	0.398000													33	43					0	0	0.003271	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572630	127572630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:127572630G>A	ENST00000373580.3	+	8	1898	c.1898G>A	c.(1897-1899)cGg>cAg	p.R633Q	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R419Q	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	633	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCCAAGGAGCGGGTGCTGTAC	0.647000													32	15					0	0	0.002445	0	0
ANO1	55107	broad.mit.edu	37	11	69951858	69951858	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:69951858G>A	ENST00000355303.5	+	5	1016	c.711G>A	c.(709-711)aaG>aaA	p.K237K	ANO1_ENST00000538023.1_Silent_p.K237K|ANO1_ENST00000398543.2_Silent_p.K121K|ANO1_ENST00000530676.1_Silent_p.K121K|ANO1_ENST00000316296.5_Silent_p.K209K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	237					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGTCTGATAAGGATTCCTTTT	0.502000													17	53					0	0	0.007413	0	0
HYDIN	54768	broad.mit.edu	37	16	71054098	71054098	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71054098G>A	ENST00000393567.2	-	22	3459	c.3309C>T	c.(3307-3309)tcC>tcT	p.S1103S	HYDIN_ENST00000448089.2_Silent_p.S1055S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1103										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGGCAGCAGGGATTTATCAG	0.498000													5	6					0	0	0.001984	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619137	43619137	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:43619137G>A	ENST00000360835.3	-	11	1419	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	431					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCAGGAAAGGAAGCAGCTCT	0.637000													31	143					0	0	0.002096	0	0
NR3C2	4306	broad.mit.edu	37	4	149357209	149357209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:149357209C>T	ENST00000355292.3	-	2	1166	c.804G>A	c.(802-804)atG>atA	p.M268I	NR3C2_ENST00000344721.4_Missense_Mutation_p.M268I|NR3C2_ENST00000512865.1_Missense_Mutation_p.M268I|NR3C2_ENST00000358102.3_Missense_Mutation_p.M268I|NR3C2_ENST00000342437.4_Missense_Mutation_p.M268I|NR3C2_ENST00000511528.1_Missense_Mutation_p.M268I			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	268	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTGAGGATTTCATGCTACTTA	0.498000													20	34					0	0	0.001523	0	0
ABI3BP	25890	broad.mit.edu	37	3	100469349	100469349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:100469349C>T	ENST00000471714.1	-	67	5433	c.5324G>A	c.(5323-5325)gGa>gAa	p.G1775E	ABI3BP_ENST00000383691.4_Missense_Mutation_p.G1027E|ABI3BP_ENST00000284322.5_Missense_Mutation_p.G1073E			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1073						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTACCATTTTCCAGGAATTGT	0.378000													7	24					0	0	0.001984	0	0
FAM135B	51059	broad.mit.edu	37	8	139165249	139165249	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:139165249T>G	ENST00000395297.1	-	13	1639	c.1469A>C	c.(1468-1470)aAt>aCt	p.N490T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	490										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)			GTCCATATGATTTTGTGTGGC	0.418000										HNSCC(54;0.14)			24	84					0	0	0.002780	0	0
PIPSL	266971	broad.mit.edu	37	10	95718530	95718530	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:95718530C>T	ENST00000480546.1	-	0	2767					NR_002319.2																						CCATGCAGTCCCCTGAGCAGG	0.483000													5	8					0	0	0.000602	0	0
MYOM1	8736	broad.mit.edu	37	18	3134808	3134808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:3134808G>A	ENST00000400569.3	-	16	2557	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	MYOM1_ENST00000261606.7_Missense_Mutation_p.P742S|MYOM1_ENST00000356443.4_Missense_Mutation_p.P742S			P52179	MYOM1_HUMAN	myomesin 1	742	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTTTGCCAGGAGCCTTGGGG	0.443000													20	45					0	0	0.001216	0	0
CCDC157	550631	broad.mit.edu	37	22	30765589	30765589	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:30765589C>T	ENST00000405659.1	+	4	1126	c.417C>T	c.(415-417)ccC>ccT	p.P139P	CCDC157_ENST00000338306.3_Silent_p.P139P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	139										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGCCACTCCCCCAGGTGGGTC	0.682000													4	5					0	0	0.000248	0	0
TRPM5	29850	broad.mit.edu	37	11	2444165	2444165	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2444165C>T	ENST00000452833.1	-	1	110	c.102G>A	c.(100-102)ggG>ggA	p.G34G	TRPM5_ENST00000533060.1_Silent_p.G34G|TRPM5_ENST00000528453.1_Silent_p.G34G|TRPM5_ENST00000155858.6_Silent_p.G34G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	34						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCGCTTCTTCCCAGACCCTC	0.647000													173	169					0	0	0.003610	0	0
ANO3	63982	broad.mit.edu	37	11	26663532	26663532	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:26663532A>T	ENST00000256737.3	+	22	3083	c.2231A>T	c.(2230-2232)cAg>cTg	p.Q744L	ANO3_ENST00000525139.1_Missense_Mutation_p.Q728L|ANO3_ENST00000531568.1_Missense_Mutation_p.Q598L|ANO3_ENST00000537978.1_Missense_Mutation_p.Q728L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	744						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGAATCTGCAGCCCATGAAC	0.413000													10	23					0	0	0.001855	0	0
KRT37	8688	broad.mit.edu	37	17	39580697	39580697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39580697G>A	ENST00000225550.3	-	1	78	c.79C>T	c.(79-81)Cct>Tct	p.P27S	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	27	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACATCGATAGGAGAGACAAAG	0.587000													39	90					0	0	0.007835	0	0
ABCA12	26154	broad.mit.edu	37	2	215890438	215890438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:215890438C>T	ENST00000272895.7	-	11	1465	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E98K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	416					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)		AAGTAATCTTCATAGGAACCA	0.308000													60	56					0	0	0.003610	0	0
JUP	3728	broad.mit.edu	37	17	39923829	39923829	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39923829G>A	ENST00000393931.3	-	5	829	c.711C>T	c.(709-711)tcC>tcT	p.S237S	JUP_ENST00000540235.1_Silent_p.S237S|JUP_ENST00000393930.1_Silent_p.S237S|JUP_ENST00000310706.5_Silent_p.S237S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	237					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACTCCACAGGGGAGCTGGGGG	0.667000													10	26					0	0	0.000673	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973353	46973353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:46973353C>T	ENST00000313683.10	-	2	1245	c.940G>A	c.(940-942)Ggt>Agt	p.G314S	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G314S	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	314										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTCTGGGACCCTTCCAGGCA	0.577000													63	153					0	0	0.003610	0	0
IGSF10	285313	broad.mit.edu	37	3	151164700	151164700	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151164700G>A	ENST00000282466.3	-	4	3068	c.3069C>T	c.(3067-3069)atC>atT	p.I1023I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1023					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATATGGGCTGATAATCCGCC	0.473000													14	38					0	0	0.001855	0	0
GPR141	353345	broad.mit.edu	37	7	37780714	37780714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:37780714C>T	ENST00000447769.1	+	4	1008	c.719C>T	c.(718-720)cCc>cTc	p.P240L	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.P240L			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	240						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTTTCCTTCCCTACCAGTTC	0.413000													21	44					0	0	0.001216	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715668	71715668	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71715668G>A	ENST00000393524.2	-	5	1609	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PHLPP2_ENST00000360429.3_Silent_p.L292L|PHLPP2_ENST00000356272.3_Silent_p.L292L|PHLPP2_ENST00000567016.1_Silent_p.L327L|PHLPP2_ENST00000568954.1_Silent_p.L292L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	292						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGAGTGTATCGAGGCCTCCGG	0.438000													18	21					0	0	0.007413	0	0
GPR133	283383	broad.mit.edu	37	12	131616322	131616322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:131616322C>T	ENST00000261654.5	+	21	2787	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	GPR133_ENST00000543617.1_Missense_Mutation_p.A262V|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.A429V|GPR133_ENST00000535015.1_Missense_Mutation_p.A775V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	743					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGATCAGCGCCGACAACTAC	0.572000													30	19					0	0	0.003755	0	0
STK24	8428	broad.mit.edu	37	13	99115960	99115960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:99115960G>A	ENST00000397517.2	-	7	990	c.914C>T	c.(913-915)tCc>tTc	p.S305F	STK24_ENST00000539966.1_Missense_Mutation_p.S286F|STK24_ENST00000376547.3_Missense_Mutation_p.S317F	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	317					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAATCCTCGGAGCTCGAGTC	0.522000													31	11					0	0	0.001786	0	0
FNIP2	57600	broad.mit.edu	37	4	159750334	159750334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:159750334G>A	ENST00000264433.6	+	3	413	c.338G>A	c.(337-339)gGg>gAg	p.G113E	FNIP2_ENST00000379346.3_Missense_Mutation_p.G136E	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	113	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGTTCTTCTGGGGGATCTTCA	0.468000													9	11					0	0	0.000673	0	0
OR8B12	219858	broad.mit.edu	37	11	124413023	124413023	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124413023G>A	ENST00000306842.2	-	1	552	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGTCACACATGAAATGATTGA	0.498000													5	13					0	0	0.001984	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875040	45875040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:45875040C>T	ENST00000311275.7	-	14	2189	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ZMYND8_ENST00000262975.4_Missense_Mutation_p.E646K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E583K|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E666K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E641K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E666K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E641K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E673K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E646K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E666K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E646K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E641K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E594K			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	646							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTCAGCTCCTCTTTAATCTCC	0.517000													84	288					0	0	0.003610	0	0
NACA	4666	broad.mit.edu	37	12	57110594	57110594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57110594G>A	ENST00000454682.1	-	3	5001	c.4720C>T	c.(4720-4722)Cca>Tca	p.P1574S	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_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						TTGGAGGATGGGGTAGCTGGG	0.572000			T	BCL6	NHL								10	14					0	0	0.000673	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121779	38121779	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:38121779G>A	ENST00000406386.3	+	7	3471	c.3216G>A	c.(3214-3216)cgG>cgA	p.R1072R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1072					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATGCCCCCCGGGCGTCCTCGC	0.652000													59	10					0	0	0.003610	0	0
C3orf20	84077	broad.mit.edu	37	3	14763184	14763184	+	Missense_Mutation	SNP	G	G	A	rs148561738		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:14763184G>A	ENST00000253697.3	+	10	1911	c.1459G>A	c.(1459-1461)Gta>Ata	p.V487I	C3orf20_ENST00000412910.1_Missense_Mutation_p.V365I|C3orf20_ENST00000435614.1_Missense_Mutation_p.V365I|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	487						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAAACTAAAGGTACTGGGACA	0.502000													30	23					0	0	0.001786	0	0
PDHA2	5161	broad.mit.edu	37	4	96761627	96761627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:96761627C>T	ENST00000295266.4	+	1	389	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	109					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATAAACCCCTCGGATCACGTC	0.527000													38	68					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	151095902	151095902	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151095902G>A	ENST00000474524.1	+	29	4352	c.4314G>A	c.(4312-4314)gaG>gaA	p.E1438E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.E1298E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1438					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGAGCTGGAGAAGGGACAGC	0.537000													4	8					0	0	0.000248	0	0
UMODL1	89766	broad.mit.edu	37	21	43504234	43504234	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43504234C>T	ENST00000400427.1	+	3	540	c.144C>T	c.(142-144)gcC>gcT	p.A48A	UMODL1_ENST00000400424.1_Silent_p.A48A|UMODL1_ENST00000408910.2_Silent_p.A120A|UMODL1_ENST00000408989.2_Silent_p.A120A	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	120	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GACCTGGGGCCTGCCCCGCAG	0.562000													95	128					0	0	0.003610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142599	3142599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3142599C>T	ENST00000252463.2	-	1	262	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G66E|ZSCAN10_ENST00000575108.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	59	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGCACCACCTCCTCCCCATCC	0.697000													13	8					0	0	0.001855	0	0
CDH18	1016	broad.mit.edu	37	5	19591224	19591224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:19591224C>T	ENST00000507958.1	-	9	1931	c.941G>A	c.(940-942)gGa>gAa	p.G314E	CDH18_ENST00000382275.1_Missense_Mutation_p.G314E|CDH18_ENST00000274170.4_Missense_Mutation_p.G314E|CDH18_ENST00000511273.1_Missense_Mutation_p.G314E|CDH18_ENST00000506372.1_Missense_Mutation_p.G314E|CDH18_ENST00000502796.1_Missense_Mutation_p.G314E			Q13634	CAD18_HUMAN	cadherin 18, type 2	314	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGAATATTCCCATGCCATC	0.408000													7	11					0	0	0.006214	0	0
HPS4	89781	broad.mit.edu	37	22	26854504	26854504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:26854504G>A	ENST00000398145.2	-	12	2369	c.1753C>T	c.(1753-1755)Cac>Tac	p.H585Y	HPS4_ENST00000402105.3_Missense_Mutation_p.H580Y|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.H598Y|HPS4_ENST00000336873.5_Missense_Mutation_p.H585Y	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	585					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTTTCAGGTGGACTTCCAGC	0.567000									Hermansky-Pudlak syndrome				20	49					0	0	0.007413	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075177	117075177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:117075177G>A	ENST00000355044.3	+	18	3094	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.E87K	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	990	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCACCACAGTGAGATGGTTCT	0.418000													10	18					0	0	0.006214	0	0
CPN2	1370	broad.mit.edu	37	3	194063131	194063131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:194063131C>T	ENST00000323830.3	-	2	390	c.301G>A	c.(301-303)Gac>Aac	p.D101N	CPN2_ENST00000429275.1_Missense_Mutation_p.D101N	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	101					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ACCTCCAGGTCCTCCAGCCTG	0.567000													21	59					0	0	0.001523	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463286	5463286	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:5463286A>C	ENST00000296564.7	+	13	4061	c.3839A>C	c.(3838-3840)aAa>aCa	p.K1280T		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1280										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCAATGGTAAAGATACTGGC	0.378000													10	18					0	0	0.000673	0	0
MYO10	4651	broad.mit.edu	37	5	16670646	16670646	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:16670646A>T	ENST00000513610.1	-	39	6326	c.5872T>A	c.(5872-5874)Ttt>Att	p.F1958I	MYO10_ENST00000505695.1_Missense_Mutation_p.F1297I|MYO10_ENST00000274203.9_Missense_Mutation_p.F1315I|MYO10_ENST00000515803.1_Missense_Mutation_p.F1297I|MYO10_ENST00000427430.2_Missense_Mutation_p.F1315I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1958	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCACATCAAACAGCGTCGAG	0.537000													21	14					0	0	0.002780	0	0
COL22A1	169044	broad.mit.edu	37	8	139606344	139606344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:139606344G>A	ENST00000303045.6	-	63	4977	c.4531C>T	c.(4531-4533)Cca>Tca	p.P1511S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1491S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1511	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCGGCCTGGAAGCCCATCT	0.667000										HNSCC(7;0.00092)			44	63					0	0	0.003610	0	0
ZNF812	729648	broad.mit.edu	37	19	9801498	9801498	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9801498C>T	ENST00000457674.2	-	5	1199	c.681G>A	c.(679-681)ggG>ggA	p.G227G	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGATTTCCCATGTTTCT	0.348000													19	6					0	0	0.006122	0	0
TPK1	27010	broad.mit.edu	37	7	144245588	144245588	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:144245588G>A	ENST00000549981.1	-	10	981	c.258C>T	c.(256-258)aaC>aaT	p.N86N	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.N154N|TPK1_ENST00000538212.2_Silent_p.N149N|TPK1_ENST00000360057.3_Silent_p.N203N			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	203					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACTTACTGAGGTTCCACTTGA	0.383000													7	52					0	0	0.003080	0	0
DOCK10	55619	broad.mit.edu	37	2	225684176	225684176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:225684176G>A	ENST00000409592.3	-	29	3349	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1085F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1085							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)		AAGGTCACCGGAGGAGAACAT	0.363000													56	39					0	0	0.003610	0	0
THNSL2	55258	broad.mit.edu	37	2	88478512	88478512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:88478512G>A	ENST00000324166.5	+	4	2473	c.782G>A	c.(781-783)gGg>gAg	p.G261E	THNSL2_ENST00000358591.2_Missense_Mutation_p.G261E|THNSL2_ENST00000402102.1_Missense_Mutation_p.G261E|THNSL2_ENST00000449349.1_Missense_Mutation_p.G229E|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.G261E|THNSL2_ENST00000343544.4_Missense_Mutation_p.G261E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	261					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTGCCAACAGGGGCTGCCGGT	0.572000													39	71					0	0	0.007835	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473139	78473139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:78473139G>A	ENST00000258873.4	-	9	1416	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	ACSBG1_ENST00000541759.1_Missense_Mutation_p.A162V|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A162V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	404					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CACCGACATGGCCCACAGCAG	0.642000													27	110					0	0	0.002096	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394754	233394754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:233394754G>A	ENST00000258229.8	-	5	1088	c.854C>T	c.(853-855)cCa>cTa	p.P285L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	285						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACAGGTTCTGGAATCAGGAC	0.527000													9	6					0	0	0.006214	0	0
SEPP1	6414	broad.mit.edu	37	5	42801040	42801040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:42801040C>T	ENST00000514985.1	-	5	1184	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.E310K|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.E310K|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	310					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CCTGTTTTTTCAAATATCAGA	0.428000													15	29					0	0	0.004007	0	0
PRR4	11272	broad.mit.edu	37	12	10999742	10999742	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:10999742A>G	ENST00000228811.4	-	3	362	c.325T>C	c.(325-327)Tct>Cct	p.S109P	PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000540107.1_Missense_Mutation_p.F51S	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	109					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AGGCTGACAGAAGGAAATCGG	0.547000													27	42					0	0	0.004656	0	0
ACSM1	116285	broad.mit.edu	37	16	20638577	20638577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20638577C>T	ENST00000219151.4	-	11	1524	c.314G>A	c.(313-315)gGt>gAt	p.G105D	ACSM1_ENST00000520010.1_Missense_Mutation_p.G454D|ACSM1_ENST00000307493.4_Missense_Mutation_p.G454D			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	454					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCATCTTACCTCTGTCCCC	0.498000													37	146					0	0	0.006230	0	0
FRY	10129	broad.mit.edu	37	13	32691490	32691490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:32691490C>T	ENST00000380250.3	+	4	840	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAATGAGCTCCCTTTCTGAG	0.408000													6	12					0	0	0.001984	0	0
EVPLL	645027	broad.mit.edu	37	17	18284800	18284800	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:18284800G>A	ENST00000399134.4	+	3	541	c.183G>A	c.(181-183)cgG>cgA	p.R61R	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	61										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGCCCGGCGGCTCAAGCACC	0.687000													13	10					0	0	0.002450	0	0
PCNT	5116	broad.mit.edu	37	21	47832828	47832828	+	Silent	SNP	C	C	T	rs143671774	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47832828C>T	ENST00000359568.5	+	29	6179	c.6072C>T	c.(6070-6072)acC>acT	p.T2024T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2024					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGTGCTCACCGTCTGCCAGA	0.587000													97	92					0	0	0.003610	0	0
TMEM8A	58986	broad.mit.edu	37	16	427075	427075	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:427075G>A	ENST00000431232.2	-	4	757	c.597C>T	c.(595-597)ccC>ccT	p.P199P	TMEM8A_ENST00000250930.3_Silent_p.P6P	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	199					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TCTGAGGAAGGGGCACGTCCG	0.647000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	53					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	8997424	8997424	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:8997424G>A	ENST00000397910.4	-	59	41201	c.40998C>T	c.(40996-40998)gtC>gtT	p.V13666V	MUC16_ENST00000380951.5_Silent_p.V307V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13668	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCCTGAAGGACCCTCTCCG	0.547000													26	20					0	0	0.002096	0	0
CHST7	56548	broad.mit.edu	37	X	46433872	46433872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:46433872G>A	ENST00000276055.3	+	1	654	c.506G>A	c.(505-507)cGg>cAg	p.R169Q		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	169					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCCGTGCTGCGGCTGTAcgcg	0.697000													25	44					0	0	0.003330	0	0
SEPW1	6415	broad.mit.edu	37	19	48282054	48282054	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48282054C>A	ENST00000601048.1	+	1	226	c.12C>A	c.(10-12)gcC>gcA	p.A4A	SEPW1_ENST00000595615.1_Silent_p.A4A|SEPW1_ENST00000593892.1_Silent_p.A4A|SEPW1_ENST00000509570.2_Silent_p.A4A|SEPW1_ENST00000601419.1_3'UTR	NM_003009.2	NP_003000.1	P63302	SELW_HUMAN	selenoprotein W, 1	4					cell redox homeostasis	cytoplasm	selenium binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		TGGCTCTCGCCGTCCGAGTCG	0.731000													11	8					1.49906e-05	3.0028e-05	0.002450	1	0
C19orf59	199675	broad.mit.edu	37	19	7742584	7742584	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7742584G>A	ENST00000333598.3	+	2	610	c.156G>A	c.(154-156)aaG>aaA	p.K52K	C19orf59_ENST00000597445.1_Intron	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	52						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						ACCATGCAAAGGGTGGTCATT	0.582000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	73					0	0	0.007291	0	0
CHST13	166012	broad.mit.edu	37	3	126261259	126261259	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126261259C>T	ENST00000319340.2	+	3	914	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	288					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		ACCTGAGCTTCCCTgggccgc	0.741000													6	3					0	0	0.004482	0	0
TXNRD1	7296	broad.mit.edu	37	12	104714883	104714883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:104714883C>T	ENST00000526691.1	+	8	1166	c.710C>T	c.(709-711)tCc>tTc	p.S237F	TXNRD1_ENST00000525566.1_Missense_Mutation_p.S335F|TXNRD1_ENST00000378070.4_Missense_Mutation_p.S284F|TXNRD1_ENST00000354940.6_Missense_Mutation_p.S185F|TXNRD1_ENST00000542918.1_Missense_Mutation_p.S235F|TXNRD1_ENST00000540716.1_Missense_Mutation_p.S147F|TXNRD1_ENST00000529546.1_Missense_Mutation_p.S147F|TXNRD1_ENST00000526950.1_Missense_Mutation_p.S254F|TXNRD1_ENST00000526390.1_Missense_Mutation_p.S229F|TXNRD1_ENST00000524698.1_Missense_Mutation_p.S185F|TXNRD1_ENST00000503506.2_Missense_Mutation_p.S185F|TXNRD1_ENST00000429002.2_Missense_Mutation_p.S335F|TXNRD1_ENST00000427956.1_Missense_Mutation_p.S300F|TXNRD1_ENST00000397736.2_Missense_Mutation_p.S229F|TXNRD1_ENST00000388854.3_Missense_Mutation_p.S237F	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	335					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GATCTTTTCTCCTTGCCTTAC	0.388000													100	200					0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526645	173526645	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:173526645A>G	ENST00000367714.3	-	10	1471	c.1049T>C	c.(1048-1050)tTg>tCg	p.L350S	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L248S|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	350					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATAGTAAGCAACCTGTGGAG	0.299000													26	108					0	0	0.005443	0	0
VARS	7407	broad.mit.edu	37	6	31762910	31762910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31762910C>T	ENST00000375663.3	-	2	525	c.85G>A	c.(85-87)Gag>Aag	p.E29K	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	29					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCGGGACCCTCCCCAGCCTCC	0.672000													79	150					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71218783	71218783	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71218783T>A	ENST00000393567.2	-	3	396	c.246A>T	c.(244-246)gaA>gaT	p.E82D	HYDIN_ENST00000288168.10_Missense_Mutation_p.E99D|HYDIN_ENST00000448691.1_Missense_Mutation_p.E82D|HYDIN_ENST00000448089.2_Missense_Mutation_p.E82D|HYDIN_ENST00000538248.1_Missense_Mutation_p.E109D|HYDIN_ENST00000393550.2_Missense_Mutation_p.E82D|HYDIN_ENST00000541601.1_Missense_Mutation_p.E99D|HYDIN_ENST00000321489.5_Missense_Mutation_p.E82D	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	82										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATGTGTTGTTTCCCCCATAT	0.443000													19	12					0	0	0.003330	0	0
METTL17	64745	broad.mit.edu	37	14	21464434	21464434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:21464434C>T	ENST00000339374.6	+	12	1296	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	METTL17_ENST00000382985.4_Missense_Mutation_p.P355S|METTL17_ENST00000556670.2_Missense_Mutation_p.P355S|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	355					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGCGTACCATCCCATCCCCTT	0.478000													130	168					0	0	0.003610	0	0
TLE2	7089	broad.mit.edu	37	19	3011136	3011136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3011136G>A	ENST00000262953.6	-	12	1158	c.896C>T	c.(895-897)cCt>cTt	p.P299L	TLE2_ENST00000591529.1_Missense_Mutation_p.P313L|TLE2_ENST00000590536.1_Missense_Mutation_p.P300L|TLE2_ENST00000455444.2_Missense_Mutation_p.P177L|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.P177L|TLE2_ENST00000447365.2_Silent_p.L8L|TLE2_ENST00000426948.2_Missense_Mutation_p.P313L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	299	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGAGGCAGGAGTGCTGGC	0.632000													5	45					0	0	0.003080	0	0
SH2D4B	387694	broad.mit.edu	37	10	82403752	82403752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:82403752G>A	ENST00000339284.2	+	7	1419	c.989G>A	c.(988-990)gGa>gAa	p.G330E	SH2D4B_ENST00000313455.4_Missense_Mutation_p.G282E|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000470604.2_Missense_Mutation_p.E403K	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	0	SH2.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GTTTTAGGAGGAAATTATCAC	0.393000													3	6					0	0	0.004672	0	0
SALL3	27164	broad.mit.edu	37	18	76752540	76752540	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:76752540G>A	ENST00000536229.3	+	1	859	c.150G>A	c.(148-150)caG>caA	p.Q50Q	SALL3_ENST00000575389.2_Silent_p.Q183Q|SALL3_ENST00000537592.2_Silent_p.Q183Q			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGTTCTCGCAGGGCGCGCGCG	0.731000													3	7					0	0	0.000248	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427070	71427070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:71427070C>T	ENST00000373657.1	-	3	1780	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	ERCC6L_ENST00000334463.3_Missense_Mutation_p.R516Q|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	516					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTTTTTTCTCGTTCCAAAAG	0.368000													11	47					0	0	0.000978	0	0
USP37	57695	broad.mit.edu	37	2	219360674	219360674	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219360674C>T	ENST00000258399.3	-	14	1694		c.e14-1		USP37_ENST00000415516.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000418019.1_Splice_Site	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATGAGCATCCTAATAAGACA	0.358000													15	38					0	0	0.003163	0	0
GDPD1	284161	broad.mit.edu	37	17	57350190	57350190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:57350190G>A	ENST00000284116.4	+	9	952	c.815G>A	c.(814-816)gGc>gAc	p.G272D	GDPD1_ENST00000581276.1_Missense_Mutation_p.G272D|GDPD1_ENST00000581140.1_Intron	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	272	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACTGCTCGAGGCATTCAAGTA	0.358000													32	75					0	0	0.001951	0	0
AIRE	326	broad.mit.edu	37	21	45712878	45712878	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45712878C>T	ENST00000291582.5	+	10	1225	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	AIRE_ENST00000329347.4_Silent_p.L159L|AIRE_ENST00000355347.4_Silent_p.L159L	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	366					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTTCCAGCTCCCCCCGGGGC	0.672000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				30	50					0	0	0.001786	0	0
TRO	7216	broad.mit.edu	37	X	54951462	54951462	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:54951462C>T	ENST00000173898.7	+	6	1558	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRO_ENST00000420798.2_Silent_p.F13F|TRO_ENST00000399736.1_Silent_p.F85F|TRO_ENST00000375041.2_Silent_p.F85F|TRO_ENST00000375022.4_Silent_p.F482F|TRO_ENST00000319167.8_Silent_p.F482F|TRO_ENST00000484031.1_3'UTR	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	482	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGAATATTTCCCAGAAATCA	0.502000													6	27					0	0	0.003080	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592579	83592579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:83592579G>A	ENST00000265362.3	-	16	2116	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S601L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	601	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGCTCTCTGCGACTTCGGACT	0.443000													42	96					0	0	0.006230	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256043	79256043	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79256043G>A	ENST00000374759.3	-	5	830	c.447C>T	c.(445-447)tcC>tcT	p.S149S	SLC38A10_ENST00000288439.5_Silent_p.S149S	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	149					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGACTGGATGGAGGCCATCA	0.647000													16	51					0	0	0.004007	0	0
ATP9A	10079	broad.mit.edu	37	20	50286610	50286610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:50286610G>A	ENST00000338821.5	-	13	1483	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ATP9A_ENST00000311637.5_Missense_Mutation_p.H271Y|ATP9A_ENST00000402822.1_Missense_Mutation_p.H286Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	407					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTCCGAGATGGAGCCGTTTG	0.453000													32	83					0	0	0.006999	0	0
CXorf27	25763	broad.mit.edu	37	X	37850445	37850445	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:37850445G>A	ENST00000341016.3	+	1	376	c.353G>A	c.(352-354)tGa>tAa	p.*118*	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	0							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AAGAATGACTGAAGACTGGGT	0.502000													5	8					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39815239	39815239	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:39815239C>T	ENST00000564288.1	+	42	11682	c.10905C>T	c.(10903-10905)caC>caT	p.H3635H	MACF1_ENST00000372915.3_Silent_p.H3640H|MACF1_ENST00000289893.4_Silent_p.H2075H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.H1573H|MACF1_ENST00000317713.7_Silent_p.H1573H|MACF1_ENST00000361689.2_Silent_p.H1573H|MACF1_ENST00000545844.1_Silent_p.H1573H|MACF1_ENST00000567887.1_Silent_p.H3672H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3640					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)			TGGCAGGCCACCAAGGCAGAA	0.473000													8	17					0	0	0.004482	0	0
STK33	65975	broad.mit.edu	37	11	8496350	8496350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8496350G>A	ENST00000447869.1	-	1	1021	c.103C>T	c.(103-105)Cct>Tct	p.P35S	STK33_ENST00000315204.1_Missense_Mutation_p.P35S|STK33_ENST00000396672.1_Missense_Mutation_p.P35S|STK33_ENST00000396673.1_Missense_Mutation_p.P35S|STK33_ENST00000534493.1_5'UTR|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	35						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAACTGGAGGAACCCTTGTT	0.388000													34	23					0	0	0.003271	0	0
TTC3	7267	broad.mit.edu	37	21	38538282	38538282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:38538282C>T	ENST00000399017.2	+	33	6513	c.3766C>T	c.(3766-3768)Cca>Tca	p.P1256S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.P1256S|TTC3_ENST00000355666.1_Missense_Mutation_p.P1256S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1256					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAAGGCCAAACCAGTATCCGA	0.443000													36	2					0	0	0.006230	0	0
RPRD2	23248	broad.mit.edu	37	1	150444238	150444238	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150444238C>T	ENST00000401000.4	+	10	2801	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000369068.4_Silent_p.F938F			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	938	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTCATTTTTCACCCCTGACT	0.512000													164	201					0	0	0.003610	0	0
CES3	23491	broad.mit.edu	37	16	67006591	67006591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:67006591G>A	ENST00000303334.4	+	12	1533	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	CES3_ENST00000394037.1_Missense_Mutation_p.E485K|CES3_ENST00000543856.1_Missense_Mutation_p.E127K	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	488						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGCCACAGAGGAGGAGAAGCA	0.592000													24	38					0	0	0.001512	0	0
ABCC6	368	broad.mit.edu	37	16	16280986	16280986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16280986C>T	ENST00000205557.7	-	14	1891	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	621					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCACCGCTTCCAGAGGAACT	0.612000											OREG0023640	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	0.001168	0	0
CILP2	148113	broad.mit.edu	37	19	19655219	19655219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:19655219C>T	ENST00000586018.1	+	8	1985	c.1883C>T	c.(1882-1884)cCc>cTc	p.P628L	CILP2_ENST00000291495.4_Missense_Mutation_p.P622L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	622						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGTCTGCCCCCAGTGACCTG	0.711000													41	105					0	0	0.002222	0	0
NR5A2	2494	broad.mit.edu	37	1	200017310	200017310	+	Silent	SNP	C	C	T	rs151039307		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200017310C>T	ENST00000367362.3	+	5	720	c.474C>T	c.(472-474)gcC>gcT	p.A158A	NR5A2_ENST00000544748.1_Silent_p.A86A|NR5A2_ENST00000236914.3_Silent_p.A112A	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	158					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTGTAAGGGCCGACCGAATGC	0.463000													7	60					0	0	0.003080	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546003	112546003	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:112546003G>A	ENST00000488794.1	-	6	1042	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CD200R1L_ENST00000398214.1_Silent_p.S172S|CD200R1L_ENST00000448932.1_Silent_p.S151S			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	172	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGGGATCCAGGAGATCTGGG	0.502000													5	17					0	0	0.001168	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102472431	102472431	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:102472431C>T	ENST00000360184.4	+	27	5804	c.5640C>T	c.(5638-5640)gtC>gtT	p.V1880V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1880	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACAAACTGGTCCAGACCCCCC	0.488000													59	215					0	0	0.003610	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209912	65209912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:65209912C>T	ENST00000247226.7	+	15	3291	c.2983C>T	c.(2983-2985)Cgt>Tgt	p.R995C	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R556C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R584C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1051C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1051					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCCCGACGTCCGTGAGCTCTG	0.731000													30	126					0	0	0.001786	0	0
OR4F15	390649	broad.mit.edu	37	15	102359049	102359049	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:102359049C>T	ENST00000332238.4	+	1	684	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCTACATCTTCATTCTGTTCA	0.473000													28	18					0	0	0.001786	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209008	45209008	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45209008C>T	ENST00000587331.1	+	5	1025	c.810C>T	c.(808-810)gcC>gcT	p.A270A	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.A270A	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	270										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACGGGCAGGCCCTAAAGAACG	0.572000													139	359					0	0	0.003610	0	0
ARSJ	79642	broad.mit.edu	37	4	114823996	114823996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:114823996G>A	ENST00000315366.7	-	2	2100	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	ARSJ_ENST00000541197.1_Missense_Mutation_p.R412C	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	412						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGGGTGAGCGAAGACCCTCA	0.473000													31	40					0	0	0.001786	0	0
PCDHA6	56142	broad.mit.edu	37	5	140210066	140210066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140210066C>T	ENST00000529310.1	+	1	2504	c.2390C>T	c.(2389-2391)gCc>gTc	p.A797V	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCATGATGCCAAAGTAAGT	0.313000													44	84					0	0	0.003610	0	0
TRPV1	7442	broad.mit.edu	37	17	3477043	3477043	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3477043G>A	ENST00000174621.6	-	12	2270	c.1981C>T	c.(1981-1983)Ctg>Ttg	p.L661L	TRPV1_ENST00000425167.2_Silent_p.L674L|TRPV1_ENST00000576351.1_Silent_p.L653L|TRPV1_ENST00000310522.5_Silent_p.L603L|SHPK_ENST00000572705.1_Silent_p.L663L|TRPV1_ENST00000571088.1_Silent_p.L663L|TRPV1_ENST00000399756.4_Silent_p.L663L|TRPV1_ENST00000399759.3_Silent_p.L663L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	663					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCCAGCAGCAGGATGATGAAG	0.522000													17	49					0	0	0.007413	0	0
EIF4G3	8672	broad.mit.edu	37	1	21183960	21183960	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:21183960T>C	ENST00000602326.1	-	23	3708	c.3125A>G	c.(3124-3126)aAc>aGc	p.N1042S	EIF4G3_ENST00000536266.1_Missense_Mutation_p.N640S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.N756S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N1042S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N1036S|EIF4G3_ENST00000264211.8_Missense_Mutation_p.N1036S|EIF4G3_ENST00000537738.1_Missense_Mutation_p.N526S	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1036					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTGTACAGTGTTCCACCCACC	0.463000													58	88					0	0	0.003610	0	0
NRXN3	9369	broad.mit.edu	37	14	80328182	80328182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:80328182G>A	ENST00000281127.7	+	6	2053	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	NRXN3_ENST00000335750.5_Missense_Mutation_p.D1021N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.D1021N|NRXN3_ENST00000428277.2_Missense_Mutation_p.D419N|NRXN3_ENST00000557594.1_Missense_Mutation_p.D597N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	597					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATCAAGTGGACGAGACGCG	0.562000													8	31					0	0	0.006214	0	0
ZNF526	116115	broad.mit.edu	37	19	42729905	42729905	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:42729905C>T	ENST00000301215.3	+	3	1575	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCTCCAAGTCCTTTGCCTCAG	0.687000													14	31					0	0	0.002450	0	0
PRSS58	136541	broad.mit.edu	37	7	141955356	141955356	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141955356G>A	ENST00000552471.1	-	2	497	c.179_splice	c.e2+1	p.P60_splice	PRSS58_ENST00000547058.2_Splice_Site_p.P60_splice			Q8IYP2	PRS58_HUMAN	protease, serine, 58	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATCACTCACGGTAAATTGCAG	0.502000													12	12					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9020067	9020067	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9020067C>A	ENST00000397910.4	-	21	37631	c.37428G>T	c.(37426-37428)ctG>ctT	p.L12476L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12478	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCCAGTACAGCCGCTCTC	0.557000													53	64					3.4597e-24	7.00799e-24	0.003610	1	0
TRPM4	54795	broad.mit.edu	37	19	49674906	49674906	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:49674906C>T	ENST00000252826.5	+	8	1056	c.930C>T	c.(928-930)tgC>tgT	p.C310C	TRPM4_ENST00000355712.5_Silent_p.C27C|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Silent_p.C310C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	310					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)		CTGCGGACTGCCTGGCGGAGA	0.602000													23	53					0	0	0.003954	0	0
CDC5L	988	broad.mit.edu	37	6	44392179	44392179	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44392179C>T	ENST00000371477.3	+	11	1727	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	476	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)			GAGAACATCTCCGTTTAGGGT	0.388000													14	12					0	0	0.003163	0	0
CCDC181	57821	broad.mit.edu	37	1	169391224	169391224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169391224C>T	ENST00000545005.1	-	4	952	c.445G>A	c.(445-447)Gag>Aag	p.E149K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.E149K|CCDC181_ENST00000367805.3_Missense_Mutation_p.E149K					coiled-coil domain containing 181																		AGTTTTCGCTCCCTTTTATCA	0.358000													27	68					0	0	0.002096	0	0
REXO1	57455	broad.mit.edu	37	19	1827820	1827820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1827820G>A	ENST00000170168.4	-	2	1062	c.968C>T	c.(967-969)tCc>tTc	p.S323F	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	323						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GCCCTCTTTGGAGGGTGGCTG	0.721000													13	22					0	0	0.001855	0	0
KRT13	3860	broad.mit.edu	37	17	39659198	39659198	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39659198G>A	ENST00000246635.3	-	4	934	c.888C>T	c.(886-888)ttC>ttT	p.F296F	KRT13_ENST00000336861.3_Silent_p.F296F|KRT13_ENST00000587544.1_Silent_p.F296F	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	296	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTTGGTGTGGAACCATTCCT	0.647000													65	48					0	0	0.003610	0	0
PBX1	5087	broad.mit.edu	37	1	164781388	164781388	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:164781388T>C	ENST00000420696.2	+	6	1185		c.e6+2		PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Splice_Site|PBX1_ENST00000367897.1_Splice_Site|PBX1_ENST00000540246.1_Splice_Site|PBX1_ENST00000401534.1_Splice_Site|PBX1_ENST00000540236.1_Splice_Site	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACTCGGCTGGTTAGTTTTTTC	0.438000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								20	17					0	0	0.001523	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779019	93779019	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:93779019G>A	ENST00000315765.9	+	2	359	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	117	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCATTTAAAGAACTTTGCTT	0.453000													17	15					0	0	0.004990	0	0
RTN1	6252	broad.mit.edu	37	14	60193723	60193723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60193723G>A	ENST00000267484.5	-	3	2014	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	560					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACTTTGGTTGGAACTCGAGTC	0.617000													10	20					0	0	0.006214	0	0
TIMM50	92609	broad.mit.edu	37	19	39971411	39971411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:39971411C>T	ENST00000314349.4	+	1	360	c.227C>T	c.(226-228)cCc>cTc	p.P76L		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	51					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCGCCCCTCCCCCGCGTTTCC	0.711000													6	6					0	0	0.001168	0	0
PRSS58	136541	broad.mit.edu	37	7	141955355	141955355	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141955355G>A	ENST00000552471.1	-	2	498	c.179_splice	c.e2+1	p.P60_splice	PRSS58_ENST00000547058.2_Splice_Site_p.P60_splice			Q8IYP2	PRS58_HUMAN	protease, serine, 58	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P60R(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATCACTCACGGTAAATTGCA	0.498000													12	12					0	0	0.000978	0	0
UBAC1	10422	broad.mit.edu	37	9	138830123	138830123	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138830123G>A	ENST00000371756.3	-	9	1264	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	349						Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TATCCAGGATGGCCTGAAAGA	0.607000													15	34					0	0	0.004007	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28967337	28967337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:28967337G>A	ENST00000320805.4	+	4	692	c.617G>A	c.(616-618)aGg>aAg	p.R206K	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	206						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CCTTCACCAAGGACCAAAAGC	0.567000													46	27					0	0	0.003610	0	0
WDR59	79726	broad.mit.edu	37	16	74922108	74922108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:74922108G>A	ENST00000262144.6	-	22	2435	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	769										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GAACGGTTAGGAAAAGGCCCA	0.458000													13	22					0	0	0.003163	0	0
ASMT	438	broad.mit.edu	37	X	1761856	1761856	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:1761856C>T	ENST00000381241.3	+	9	1270	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ASMT_ENST00000381233.3_Silent_p.F282F|ASMT_ENST00000381229.4_Silent_p.F329F	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	329					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGAGACTTCCAGTTTAAGA	0.473000													92	40					0	0	0.003610	0	0
ARRB2	409	broad.mit.edu	37	17	4623547	4623547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:4623547C>T	ENST00000575877.1	+	12	846	c.823C>T	c.(823-825)Cct>Tct	p.P275S	ARRB2_ENST00000571206.1_Silent_p.I126I|ARRB2_ENST00000269260.2_Silent_p.I318I|ARRB2_ENST00000381488.6_Silent_p.I303I|ARRB2_ENST00000572457.1_Silent_p.I126I|ARRB2_ENST00000574954.1_Silent_p.I126I|ARRB2_ENST00000412477.3_Silent_p.I339I|ARRB2_ENST00000346341.2_Silent_p.I303I	NM_001257329.1	NP_001244258.1	P32121	ARRB2_HUMAN	arrestin, beta 2	0	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCTGGGAATCCTGGTGTCCT	0.622000													8	20					0	0	0.003080	0	0
IL36B	27177	broad.mit.edu	37	2	113780333	113780333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113780333G>A	ENST00000259213.4	-	6	520	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	138					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATGTTGAAAGGAACTCTTCCA	0.433000													8	22					0	0	0.006214	0	0
ACSL1	2180	broad.mit.edu	37	4	185724659	185724659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:185724659G>A	ENST00000515030.1	-	2	335	c.10C>T	c.(10-12)Cat>Tat	p.H4Y	ACSL1_ENST00000507295.1_Missense_Mutation_p.H4Y|ACSL1_ENST00000504900.1_Missense_Mutation_p.H4Y|ACSL1_ENST00000504342.1_Missense_Mutation_p.H4Y|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Missense_Mutation_p.H4Y|ACSL1_ENST00000513317.1_Missense_Mutation_p.H4Y			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	4					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGCTCATGGGCTTGCATT	0.502000													9	8					0	0	0.000673	0	0
CDCP1	64866	broad.mit.edu	37	3	45153630	45153630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:45153630C>T	ENST00000296129.1	-	3	734	c.600G>A	c.(598-600)tgG>tgA	p.W200*	CDCP1_ENST00000425231.2_Nonsense_Mutation_p.W200*	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	200						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGGGGTGGAACCATGGGAGGT	0.502000													12	44					0	0	0.003163	0	0
CA2	760	broad.mit.edu	37	8	86385933	86385933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:86385933G>A	ENST00000285379.5	+	3	474	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	82					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCTCAAGGGAGGACCCCTGGA	0.353000													17	31					0	0	0.004990	0	0
PCNT	5116	broad.mit.edu	37	21	47766795	47766795	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47766795C>G	ENST00000359568.5	+	5	966	c.859C>G	c.(859-861)Cgg>Ggg	p.R287G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	287	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTCAACAGCCGGCGTGCCCA	0.642000													9	21					0	0	0.000978	0	0
LBP	3929	broad.mit.edu	37	20	36993293	36993293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:36993293C>T	ENST00000217407.2	+	8	969	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	270				VMSLP -> A (in Ref. 1; AAA59493).	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CATGAGCCTTCCTGAGGAACA	0.458000													73	185					0	0	0.003610	0	0
ZNF582	147948	broad.mit.edu	37	19	56896041	56896041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56896041G>A	ENST00000301310.4	-	5	903	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	ZNF582_ENST00000586929.1_Missense_Mutation_p.H249Y	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TCACCAGTATGAACTCTCTGA	0.388000													33	23					0	0	0.002836	0	0
ITGB1	3688	broad.mit.edu	37	10	33201026	33201026	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:33201026T>A	ENST00000396033.2	-	12	1631	c.1496A>T	c.(1495-1497)cAt>cTt	p.H499L	ITGB1_ENST00000302278.3_Missense_Mutation_p.H499L|ITGB1_ENST00000374956.4_Missense_Mutation_p.H499L|ITGB1_ENST00000423113.1_Missense_Mutation_p.H499L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	499	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GCATTCACAATGTCTACCAAC	0.408000													6	2					0	0	0.001984	0	0
HDAC6	10013	broad.mit.edu	37	X	48663912	48663912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48663912C>T	ENST00000334136.5	+	5	557	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	HDAC6_ENST00000376619.2_Missense_Mutation_p.R127C|HDAC6_ENST00000444343.2_Missense_Mutation_p.R141C|HDAC6_ENST00000413163.2_Missense_Mutation_p.R72C|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	127	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCTCCTAGATCGCTGCGTGTC	0.602000													10	25					0	0	0.000978	0	0
NCLN	56926	broad.mit.edu	37	19	3193407	3193407	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3193407C>T	ENST00000246117.4	+	3	932	c.501C>T	c.(499-501)ggC>ggT	p.G167G	NCLN_ENST00000590671.1_Silent_p.G93G	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	167					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCAGGGCTCCGCCTCTG	0.692000													10	40					0	0	0.001855	0	0
CACNB2	783	broad.mit.edu	37	10	18828513	18828513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:18828513G>A	ENST00000396576.2	+	13	2179	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	CACNB2_ENST00000377319.3_Missense_Mutation_p.E522K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E591K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E567K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E563K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E587K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E561K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E615K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E365K|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	615					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTGGATCGAGAGCAGGACCA	0.547000													11	7					0	0	0.000978	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838665	43838665	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43838665G>A	ENST00000319294.6	+	7	1024	c.993G>A	c.(991-993)ctG>ctA	p.L331L	UBASH3A_ENST00000291535.6_Silent_p.L293L|UBASH3A_ENST00000398367.1_Silent_p.L293L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	331	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGGGCTTCCTGCCGGAAAACT	0.612000													12	40					0	0	0.002450	0	0
FAT1	2195	broad.mit.edu	37	4	187549424	187549424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:187549424G>A	ENST00000441802.2	-	9	4903	c.4694C>T	c.(4693-4695)tCc>tTc	p.S1565F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1565	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTGTAGGAGGAAGCGGTGAA	0.512000										HNSCC(5;0.00058)			7	6					0	0	0.003080	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206767	104206767	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104206767G>A	ENST00000202556.9	-	12	2268	c.1986C>T	c.(1984-1986)acC>acT	p.T662T	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.T81T	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	662	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCTCTCCACGGTGCTGCCAT	0.652000													59	212					0	0	0.003610	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80199538	80199538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:80199538G>A	ENST00000450142.2	-	14	2100	c.1834C>T	c.(1834-1836)Cgt>Tgt	p.R612C	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R612C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R612C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R525C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R556C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	612	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity	p.R612C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCCACAAACGATTTGAGGTA	0.413000													3	2					0	0	0.000248	0	0
OR51B6	390058	broad.mit.edu	37	11	5372760	5372760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5372760C>T	ENST00000380219.1	+	1	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTCTGCTTCCACCTTCCAG	0.448000													4	9					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168101504	168101504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168101504G>A	ENST00000409195.1	+	9	3691	c.3602G>A	c.(3601-3603)aGg>aAg	p.R1201K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R979K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1201K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1026					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						TCCAGCATGAGGTATAAATTT	0.343000													5	24					0	0	0.001168	0	0
SDK1	221935	broad.mit.edu	37	7	4116663	4116663	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:4116663A>G	ENST00000404826.2	+	21	3183	c.3044A>G	c.(3043-3045)aAc>aGc	p.N1015S	SDK1_ENST00000389531.3_Missense_Mutation_p.N1015S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1015	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACGGCAGGAACGACTCTCGT	0.557000													13	37					0	0	0.003163	0	0
OR5D13	390142	broad.mit.edu	37	11	55541772	55541772	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55541772C>T	ENST00000361760.1	+	1	859	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	287					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)				GATTCCAATGCTGAACCCATT	0.363000													9	10					0	0	0.006214	0	0
RELL2	285613	broad.mit.edu	37	5	141019574	141019574	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:141019574G>A	ENST00000297164.3	+	5	1791	c.591G>A	c.(589-591)ggG>ggA	p.G197G	RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Silent_p.G131G|RELL2_ENST00000444782.1_Silent_p.G197G|RELL2_ENST00000518856.1_Silent_p.G131G|FCHSD1_ENST00000523856.1_5'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	197						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGGTGGGGGACAGGACC	0.677000													23	45					0	0	0.002780	0	0
VPS13C	54832	broad.mit.edu	37	15	62228916	62228916	+	Missense_Mutation	SNP	T	T	A	rs35069516		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:62228916T>A	ENST00000261517.5	-	48	5708	c.5635A>T	c.(5635-5637)Atg>Ttg	p.M1879L	VPS13C_ENST00000249837.3_Missense_Mutation_p.M1836L|VPS13C_ENST00000395898.3_Missense_Mutation_p.M1836L|VPS13C_ENST00000395896.4_Missense_Mutation_p.M1879L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1879					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						AAAATTTTCATTAAAACTGTC	0.348000													19	33					0	0	0.007413	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098231	92098231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:92098231G>A	ENST00000493463.2	-	1	2388	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	ERVW-1_ENST00000604270.1_5'UTR|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.P489S	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		489					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						tgcatcttgggctccatttgt	0.473000													24	127					0	0	0.002780	0	0
DOCK5	80005	broad.mit.edu	37	8	25177143	25177143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:25177143C>T	ENST00000276440.7	+	15	1537	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	498	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAATACAAATCAGTAGTCTAT	0.373000													6	4					0	0	0.003080	0	0
VPS13C	54832	broad.mit.edu	37	15	62212401	62212401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:62212401G>A	ENST00000261517.5	-	57	7415	c.7342C>T	c.(7342-7344)Cct>Tct	p.P2448S	VPS13C_ENST00000249837.3_Missense_Mutation_p.P2405S|VPS13C_ENST00000395898.3_Missense_Mutation_p.P2405S|VPS13C_ENST00000395896.4_Missense_Mutation_p.P2448S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2448					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						CTTTTCTCAGGGAAGCCCATT	0.413000													18	87					0	0	0.001216	0	0
SLIT3	6586	broad.mit.edu	37	5	168233571	168233571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:168233571G>A	ENST00000519560.1	-	9	1234	c.815C>T	c.(814-816)tCc>tTc	p.S272F	SLIT3_ENST00000404867.3_Missense_Mutation_p.S272F|SLIT3_ENST00000332966.8_Missense_Mutation_p.S272F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	272	LRRNT 2.				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)			GGCATTGCAGGATGGGGGCTC	0.567000													13	10					0	0	0.002450	0	0
PARP3	10039	broad.mit.edu	37	3	51982487	51982487	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:51982487C>T	ENST00000417220.2	+	12	2081	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Silent_p.V531V|PARP3_ENST00000398755.3_Silent_p.V538V			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	531	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCTGGAGGTCCACCTCTGAG	0.592000													26	18					0	0	0.006320	0	0
AGER	177	broad.mit.edu	37	6	32149359	32149359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:32149359C>T	ENST00000375055.2	-	9	1038	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	AGER_ENST00000375067.3_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000375069.3_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.E355K|AGER_ENST00000375076.4_Intron|AGER_ENST00000375070.3_Intron	NM_001206934.1|NM_001206936.1|NM_001206940.1|NM_001206954.1|NM_001206966.1	NP_001193863.1|NP_001193865.1|NP_001193869.1|NP_001193883.1|NP_001193895.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	0					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCTTCTGCTTCCCTGACTTTA	0.527000													91	243					0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77859274	77859274	+	Silent	SNP	C	C	T	rs149678482	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:77859274C>T	ENST00000302536.2	+	3	648	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	165							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCATGAACTTCGTCACAGCCT	0.552000													6	35					0	0	0.001984	0	0
LAMA1	284217	broad.mit.edu	37	18	6965357	6965357	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:6965357G>A	ENST00000389658.3	-	50	7218	c.7125C>T	c.(7123-7125)acC>acT	p.T2375T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2375	Laminin G-like 2.				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)	CTGTCAAAAGGGTAATGGGTC	0.463000													40	16					0	0	0.007835	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277848	41277848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:41277848G>T	ENST00000357137.4	+	3	340	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	XPNPEP3_ENST00000544094.1_Nonsense_Mutation_p.E63*|XPNPEP3_ENST00000541156.1_Nonsense_Mutation_p.E86*|XPNPEP3_ENST00000414396.1_Nonsense_Mutation_p.E86*	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	86					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GATCCAGAAGGAAGCTCAAGG	0.463000													11	39					1.08611e-07	2.18166e-07	0.000978	1	0
KCTD8	386617	broad.mit.edu	37	4	44177058	44177058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:44177058G>A	ENST00000360029.3	-	2	1454	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507000										HNSCC(17;0.042)			65	52					0	0	0.003610	0	0
RTCB	51493	broad.mit.edu	37	22	32804216	32804216	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32804216G>A	ENST00000216038.5	-	3	284	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RTCB_ENST00000451746.2_Silent_p.F62F	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		TGGCTGGCAGGAAGCCACCAA	0.373000													18	36					0	0	0.001523	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799832	74799832	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:74799832G>A	ENST00000305159.3	-	1	967	c.927C>T	c.(925-927)atC>atT	p.I309I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CTTGAGACATGATTTTGGTGA	0.453000													29	20					0	0	0.002445	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8662007	8662007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:8662007C>T	ENST00000270328.4	-	7	1170	c.904G>A	c.(904-906)Gag>Aag	p.E302K	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E302K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	302	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGGTGATCTCCAGAGTGGGC	0.597000													36	108					0	0	0.002852	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250530	140250530	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140250530G>A	ENST00000398640.2	+	1	1842	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGCGGCGGGCGGCTCGC	0.682000													33	52					0	0	0.004878	0	0
GABRG3	2567	broad.mit.edu	37	15	27725843	27725843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:27725843G>A	ENST00000333743.6	+	6	876	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	GABRG3_ENST00000555083.1_Missense_Mutation_p.V208M	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	208					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAAAAATTCAGTGGAGGCAGC	0.393000													5	11					0	0	0.000602	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524187	24524187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:24524187G>A	ENST00000376862.3	+	2	1087	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	152	Poly-Glu.				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGATGTGGAGGAGGAGGAGGA	0.542000													39	164					0	0	0.003610	0	0
LAMB2	3913	broad.mit.edu	37	3	49169618	49169618	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49169618G>A	ENST00000418109.1	-	5	554	c.390C>T	c.(388-390)atC>atT	p.I130I	LAMB2_ENST00000305544.4_Silent_p.I130I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	130	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACCGCAGGGATACCTGGGA	0.557000													15	46					0	0	0.003163	0	0
SSRP1	6749	broad.mit.edu	37	11	57097589	57097589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57097589C>T	ENST00000278412.2	-	12	1725	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	487	Asp/Glu-rich (acidic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTTCCTCCTCTTCACCTGGG	0.517000													49	92					0	0	0.003610	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73168939	73168939	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:73168939C>T	ENST00000545377.1	+	22	2858	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	ARHGEF28_ENST00000287898.5_Silent_p.F894F|ARHGEF28_ENST00000513042.2_Silent_p.F894F|ARHGEF28_ENST00000437974.1_Silent_p.F894F|ARHGEF28_ENST00000296794.6_Silent_p.F894F|ARHGEF28_ENST00000296799.4_Silent_p.F581F|ARHGEF28_ENST00000426542.2_Silent_p.F894F	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		ATAAAATTTTCCCCTGTTTAG	0.468000													13	12					0	0	0.002450	0	0
TPST2	8459	broad.mit.edu	37	22	26932425	26932425	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:26932425G>A	ENST00000338754.4	-	4	1140	c.870C>T	c.(868-870)atC>atT	p.I290I	TPST2_ENST00000403880.1_Silent_p.I290I|TPST2_ENST00000398110.2_Silent_p.I290I	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	290					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TAACAGGCTTGATGACCTGGT	0.642000													9	29					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57327075	57327075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57327075C>T	ENST00000326441.9	-	10	3098	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G788E|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G786E|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G912E|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	912					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCACCAGATCCCTCTCCAGG	0.458000													17	24					0	0	0.006122	0	0
TBCE	6905	broad.mit.edu	37	1	235599097	235599097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:235599097C>T	ENST00000543662.1	+	10	1034	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	TBCE_ENST00000406207.1_Missense_Mutation_p.L259F|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.L259F			Q15813	TBCE_HUMAN	tubulin folding cofactor E	259					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GTTATTAGATCTTTCCTCTAA	0.358000													38	156					0	0	0.002522	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553283	140553283	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140553283C>T	ENST00000231137.3	+	1	1041	c.867C>T	c.(865-867)ctC>ctT	p.L289L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		289	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGAATTCTCAAAACGTTTC	0.413000													67	46					0	0	0.003610	0	0
TRIM58	25893	broad.mit.edu	37	1	248039313	248039313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248039313G>A	ENST00000366481.3	+	6	1031	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	328	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)			AACCCTGAGCGATTTGACACA	0.602000													11	41					0	0	0.000673	0	0
ACACA	31	broad.mit.edu	37	17	35518742	35518742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:35518742G>A	ENST00000353139.5	-	42	5783	c.5302C>T	c.(5302-5304)Cgc>Tgc	p.R1768C	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000335166.5_Missense_Mutation_p.R1653C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1673C|ACACA_ENST00000394406.2_Missense_Mutation_p.R1731C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1731	Carboxyltransferase.				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	p.R1673C(2)|p.R1768C(1)		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)	AACATATGGCGAATTTCTTCT	0.448000													26	48					0	0	0.005443	0	0
SYNE1	23345	broad.mit.edu	37	6	152472804	152472804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:152472804C>T	ENST00000367255.5	-	135	24935	c.24334G>A	c.(24334-24336)Gag>Aag	p.E8112K	SYNE1_ENST00000539504.1_Missense_Mutation_p.E267K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E267K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8112K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8041K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8041K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2636K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7724K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8112					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)		GTCTCAAACTCCTCACGCTGG	0.418000										HNSCC(10;0.0054)			16	1					0	0	0.007413	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034921	107034921	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:107034921G>A	ENST00000390626.2	-	0	217																											GCACCCAGCCGATCCAGTAGC	0.572000													8	5					0	0	0.006214	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113143946	113143946	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113143946T>A	ENST00000261965.3	-	21	2700	c.2514A>T	c.(2512-2514)gaA>gaT	p.E838D		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	838					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTGGTATAGATTCTTTAAATT	0.438000													30	78					0	0	0.002836	0	0
PTPRB	5787	broad.mit.edu	37	12	70954580	70954580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70954580C>T	ENST00000334414.6	-	17	4347	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K	PTPRB_ENST00000550857.1_Missense_Mutation_p.E1127K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1127K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1217K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1434K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1347K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1127K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1217	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTCCAGTTTTCCTTCTTTGTG	0.498000													5	11					0	0	0.001168	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647267	33647267	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:33647267A>T	ENST00000558425.1	-	2	332	c.333T>A	c.(331-333)gcT>gcA	p.A111A																								AGTAATACACAGCCGTGTCCT	0.557000													27	60					0	0	0.006320	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955354	102955354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:102955354G>A	ENST00000311734.2	+	3	458	c.119G>A	c.(118-120)gGa>gAa	p.G40E	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.G40E|IL1RL1_ENST00000393393.3_Missense_Mutation_p.G40E|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G40E			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	40	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTAGACAAGGAAAACCTAGT	0.383000													21	30					0	0	0.001523	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:57233561G>A	ENST00000343433.6	-	5	1084	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	335								p.S335L(1)		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						TCTCAGATATGAAATTGTTGC	0.353000													19	26					0	0	0.003954	0	0
PGBD5	79605	broad.mit.edu	37	1	230492894	230492894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:230492894C>T	ENST00000321327.2	-	4	594	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	PGBD5_ENST00000525115.1_Missense_Mutation_p.A100T|PGBD5_ENST00000391860.1_Missense_Mutation_p.A54T			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	100						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCAGGAACGCCTTCATCTCC	0.592000													21	89					0	0	0.001523	0	0
TDRD1	56165	broad.mit.edu	37	10	115970409	115970409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:115970409C>T	ENST00000251864.2	+	12	1607	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	TDRD1_ENST00000369280.1_Missense_Mutation_p.P485L|TDRD1_ENST00000422662.1_Missense_Mutation_p.P146L|TDRD1_ENST00000369281.2_Missense_Mutation_p.P485L|TDRD1_ENST00000369282.1_Missense_Mutation_p.P485L	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	485					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACCTAATCCCAAAAGTGTTA	0.383000													5	2					0	0	0.000602	0	0
ZNF423	23090	broad.mit.edu	37	16	49672682	49672682	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:49672682G>A	ENST00000561648.1	-	4	434	c.381C>T	c.(379-381)ctC>ctT	p.L127L	ZNF423_ENST00000567169.1_Silent_p.L10L|ZNF423_ENST00000535559.1_Silent_p.L10L|ZNF423_ENST00000262383.2_Silent_p.L127L|ZNF423_ENST00000563137.2_Silent_p.L67L|ZNF423_ENST00000562871.1_Silent_p.L67L|ZNF423_ENST00000562520.1_Silent_p.L67L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	127					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTCCTCGCCGAGGCCGAGGT	0.602000													12	31					0	0	0.001368	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475728	27475728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:27475728G>A	ENST00000356183.4	-	34	5800	c.5785C>T	c.(5785-5787)Caa>Taa	p.Q1929*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.Q1929*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1929						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACACCCTCTTGGTCTTCCTGT	0.662000													50	87					0	0	0.003610	0	0
CLCN3	1182	broad.mit.edu	37	4	170613424	170613424	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:170613424T>C	ENST00000513761.1	+	7	1448	c.889T>C	c.(889-891)Tcc>Ccc	p.S297P	CLCN3_ENST00000347613.4_Missense_Mutation_p.S297P|CLCN3_ENST00000360642.3_Missense_Mutation_p.S297P|CLCN3_ENST00000504131.2_Missense_Mutation_p.S280P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	297					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAATATCTTTTCCTACCTCTT	0.363000													20	29					0	0	0.002299	0	0
RPL7L1	285855	broad.mit.edu	37	6	42853737	42853737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:42853737G>A	ENST00000493763.1	+	5	751	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000602561.1_Missense_Mutation_p.E150K|RPL7L1_ENST00000304734.5_Missense_Mutation_p.E150K|RPL7L1_ENST00000424341.2_Intron	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	150					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			GTCTGTCCGAGAACTCATTTT	0.473000													11	38					0	0	0.000978	0	0
CACTIN	58509	broad.mit.edu	37	19	3620798	3620798	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3620798G>A	ENST00000429344.2	-	3	697	c.645C>T	c.(643-645)gcC>gcT	p.A215A	CACTIN_ENST00000221899.3_Silent_p.A147A|CACTIN_ENST00000248420.5_Silent_p.A215A	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TCTTCTCCAGGGCCTGGAAGC	0.622000													16	36					0	0	0.004990	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103478478	103478478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:103478478C>T	ENST00000361246.2	-	2	511	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	75					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATTTCAAAGTCTTCTCGATGA	0.328000													25	86					0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179431061	179431061	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179431061T>C	ENST00000589042.1	-	326	80022	c.79798A>G	c.(79798-79800)Aaa>Gaa	p.K26600E	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K24959E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24032E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17660E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17535E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17727E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24959	Fibronectin type-III 93.						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)			ACAATTCCTTTTCTTAATTCG	0.438000													6	19					0	0	0.001984	0	0
SPINK5	11005	broad.mit.edu	37	5	147486632	147486632	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:147486632G>A	ENST00000359874.3	+	17	1585	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	SPINK5_ENST00000256084.7_Silent_p.R504R|SPINK5_ENST00000398454.1_Silent_p.R504R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	504	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAGTGAGGAATGGAACAC	0.438000													5	8					0	0	0.001168	0	0
LRRN2	10446	broad.mit.edu	37	1	204588392	204588392	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204588392G>A	ENST00000367175.1	-	1	2941	c.729C>T	c.(727-729)tcC>tcT	p.S243S	LRRN2_ENST00000367176.3_Silent_p.S243S|LRRN2_ENST00000367177.3_Silent_p.S243S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	243					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTCATAGAAGGAGAGGCTCT	0.642000													48	44					0	0	0.003610	0	0
SCN8A	6334	broad.mit.edu	37	12	52082618	52082618	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52082618A>T	ENST00000354534.5	+	6	869	c.691A>T	c.(691-693)Att>Ttt	p.I231F	SCN8A_ENST00000550891.1_Intron|SCN8A_ENST00000545061.1_Missense_Mutation_p.I231F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	231					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTGAAAACTATTTCGGTAAT	0.428000													14	31					0	0	0.002450	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912861	77912861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77912861C>T	ENST00000321110.1	-	2	1352	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	353							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGCTTTCATCCCAGTTCAGC	0.473000													18	9					0	0	0.004990	0	0
THSD1	55901	broad.mit.edu	37	13	52952717	52952717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:52952717G>A	ENST00000349258.4	-	4	1773	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	THSD1_ENST00000258613.4_Missense_Mutation_p.S463L|THSD1_ENST00000544466.1_Missense_Mutation_p.S84L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	463						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCCTCGTCCGAGTTCTTCCG	0.642000													48	22					0	0	0.003610	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201909	1201909	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1201909C>T	ENST00000304460.10	+	1	200	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	48					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTGGGCTTCTGCGTGGGCC	0.697000													10	26					0	0	0.000673	0	0
PSME4	23198	broad.mit.edu	37	2	54128511	54128511	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:54128511A>C	ENST00000404125.1	-	28	3316	c.3261T>G	c.(3259-3261)taT>taG	p.Y1087*	PSME4_ENST00000421748.2_Nonsense_Mutation_p.Y231*	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1087					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAATTGTTTCATACTGCCTAT	0.378000													9	25					0	0	0.004482	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595194	129595194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:129595194C>T	ENST00000373464.4	+	3	670	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	ZBTB43_ENST00000449886.1_Missense_Mutation_p.H136Y|ZBTB43_ENST00000373457.1_Missense_Mutation_p.H136Y	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGCTAAATCATGGCAGTGA	0.488000													19	42					0	0	0.001523	0	0
TTC22	55001	broad.mit.edu	37	1	55266487	55266487	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:55266487T>A	ENST00000371276.4	-	1	453	c.350A>T	c.(349-351)gAa>gTa	p.E117V	TTC22_ENST00000371274.4_Missense_Mutation_p.E117V	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	117							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CTCCTCCTCTTCTTCCTGGCC	0.731000													7	4					0	0	0.004482	0	0
TMEM80	283232	broad.mit.edu	37	11	700156	700156	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:700156C>T	ENST00000397512.3	+	3	215	c.105C>T	c.(103-105)ccC>ccT	p.P35P	TMEM80_ENST00000397510.2_Silent_p.P43P	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN	transmembrane protein 80	43						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCAGTTCCCCTTCAAATGC	0.527000													46	82					0	0	0.003610	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134765	119134765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:119134765C>T	ENST00000264245.4	+	12	4521	c.3989C>T	c.(3988-3990)tCt>tTt	p.S1330F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1330					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.S1330F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGCGACCATCTGGGGGTTCT	0.522000													12	37					0	0	0.001855	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13418659G>A	ENST00000360228.5	-	15	1922	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_ENST00000573710.2_Silent_p.F642F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000													28	103					0	0	0.002836	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994057	106994057	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106994057G>A	ENST00000390624.2	-	0	186																											AGAGTCTCAGGGACCCCCCAG	0.577000													37	80					0	0	0.002222	0	0
PSMD6	9861	broad.mit.edu	37	3	64004323	64004323	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:64004323G>A	ENST00000492933.1	-	6	989	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	PSMD6_ENST00000394431.2_Silent_p.L222L|PSMD6_ENST00000295901.4_Silent_p.L260L|PSMD6_ENST00000482510.1_Silent_p.L221L	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	260	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		AGTGAAAACAGATACTGCCGA	0.348000													15	24					0	0	0.004007	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226629	23226629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:23226629G>A	ENST00000300061.2	+	13	1932	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	597					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCAGCCCTGGATATAGACGA	0.597000													15	21					0	0	0.004007	0	0
SNTG2	54221	broad.mit.edu	37	2	1161305	1161305	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:1161305T>C	ENST00000308624.5	+	7	612	c.483T>C	c.(481-483)ttT>ttC	p.F161F	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	161					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGCCGGCATTTCTGAAGCTCC	0.453000													35	64					0	0	0.007835	0	0
ITGAX	3687	broad.mit.edu	37	16	31391671	31391671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:31391671G>A	ENST00000268296.4	+	27	3266	c.3145G>A	c.(3145-3147)Ggc>Agc	p.G1049S	ITGAX_ENST00000562522.1_Missense_Mutation_p.G1049S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1049					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCCTGAAGGGCAACCTCAG	0.627000													9	15					0	0	0.000673	0	0
MICAL3	57553	broad.mit.edu	37	22	18300865	18300865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:18300865G>A	ENST00000441493.2	-	26	4914	c.4562C>T	c.(4561-4563)cCc>cTc	p.P1521L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1521						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATCAGCAAAGGGAATCTCCTC	0.647000													12	37					0	0	0.001368	0	0
SRBD1	55133	broad.mit.edu	37	2	45616460	45616460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:45616460G>A	ENST00000263736.4	-	21	3039	c.2977C>T	c.(2977-2979)Cgg>Tgg	p.R993W	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.R512W	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	993					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CATAACACCCGAATGAGGTCC	0.453000													4	10					0	0	0.000248	0	0
SLC25A14	9016	broad.mit.edu	37	X	129480527	129480527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129480527C>T	ENST00000543953.1	+	3	123	c.74C>T	c.(73-75)cCt>cTt	p.P25L	SLC25A14_ENST00000361980.5_Missense_Mutation_p.P57L|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000218197.5_Missense_Mutation_p.P60L|SLC25A14_ENST00000545805.1_Missense_Mutation_p.P60L|SLC25A14_ENST00000339231.3_Missense_Mutation_p.P57L			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	60					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GGGACTTTCCCTGTGGACCTT	0.388000													33	97					0	0	0.005524	0	0
DCAF11	80344	broad.mit.edu	37	14	24588383	24588383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24588383C>T	ENST00000446197.3	+	9	1536	c.809C>T	c.(808-810)tCc>tTc	p.S270F	DCAF11_ENST00000396936.1_Missense_Mutation_p.S170F|DCAF11_ENST00000559115.1_Missense_Mutation_p.S270F|DCAF11_ENST00000396941.4_Missense_Mutation_p.S244F	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	270						CUL4 RING ubiquitin ligase complex	protein binding										GCTGTCTTCTCCATTGCTGTC	0.463000													84	214					0	0	0.003610	0	0
RPGR	6103	broad.mit.edu	37	X	38156589	38156589	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:38156589G>A	ENST00000378505.2	-	11	1538	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	RPGR_ENST00000338898.3_Silent_p.N454N|RPGR_ENST00000318842.7_Silent_p.N454N|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Silent_p.N454N|RPGR_ENST00000309513.3_Silent_p.N392N|RPGR_ENST00000342811.3_Silent_p.N454N	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	454					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCTCTTGGAGGTTTCTCTCAG	0.443000													12	15					0	0	0.003163	0	0
ARSF	416	broad.mit.edu	37	X	3007547	3007547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:3007547G>A	ENST00000381127.1	+	7	1062	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ARSF_ENST00000359361.2_Missense_Mutation_p.E281K|ARSF_ENST00000537104.1_Missense_Mutation_p.E281K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	281						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAGTAAGGAAACTTTCCT	0.428000													23	56					0	0	0.004656	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558701	48558701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48558701C>T	ENST00000376687.3	+	3	575	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R140C|SUV39H1_ENST00000453214.2_Intron	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	129					cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCGGGCGCTCCGTCGCTGGGA	0.662000													12	15					0	0	0.002450	0	0
BRCA2	675	broad.mit.edu	37	13	32945213	32945213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:32945213C>T	ENST00000544455.1	+	20	8835	c.8608C>T	c.(8608-8610)Cag>Tag	p.Q2870*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2870*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2870					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTAAAATTCAGGAGGAATT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			20	21					0	0	0.001523	0	0
DSC3	1825	broad.mit.edu	37	18	28609493	28609493	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:28609493G>A	ENST00000434452.1	-	4	610	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DSC3_ENST00000360428.4_Silent_p.F152F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	152	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAACAATGGGAAAGGGCCCA	0.408000													20	46					0	0	0.001216	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343568	38343568	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:38343568C>T	ENST00000374618.3	+	5	694	c.516C>T	c.(514-516)gcC>gcT	p.A172A	ZNF33A_ENST00000307441.9_Silent_p.A171A|ZNF33A_ENST00000432900.2_Silent_p.A178A|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.A171A	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATTTAATGCCTGTGGGAAAT	0.328000													3	3					0	0	0.004672	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279235	51279235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:51279235G>A	ENST00000551456.1	+	4	904	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	0	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTCAAACAAGGCCTTTGATAA	0.338000													16	34					0	0	0.003163	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732424	138732424	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138732424G>A	ENST00000242351.5	-	13	2941	c.2625C>T	c.(2623-2625)tcC>tcT	p.S875S	ZC3HAV1_ENST00000464606.1_Silent_p.S997S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	875	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGACAAAAACGGAGGGATTCG	0.428000													60	58					0	0	0.003610	0	0
ASTN1	460	broad.mit.edu	37	1	177030324	177030324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:177030324G>A	ENST00000367654.2	-	2	374	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.H121Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.H121Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.H121Y			O14525	ASTN1_HUMAN	astrotactin 1	121					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						TGATGAATGTGAAAAAGCAAA	0.522000													9	28					0	0	0.006214	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862642	10862642	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:10862642C>T	ENST00000559480.1	+	0	21																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ATTGGAGGATCCTGTTTTTGG	0.502000													6	118					0	0	0.003080	0	0
AOC1	26	broad.mit.edu	37	7	150555987	150555987	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:150555987C>T	ENST00000493429.1	+	5	2291	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	AOC1_ENST00000416793.2_Silent_p.F569F|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.F569F|AOC1_ENST00000467291.1_Silent_p.F569F					amine oxidase, copper containing 1																		CCTTCCGCTTCAAAAGGAAGC	0.617000													11	41					0	0	0.000673	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730499	37730499	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:37730499G>A	ENST00000330843.4	-	4	1833	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	607	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGTGGATGTGGAAATGGGAG	0.532000													49	47					0	0	0.003610	0	0
ADAR	103	broad.mit.edu	37	1	154569431	154569431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:154569431G>A	ENST00000368474.4	-	6	2319	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ADAR_ENST00000368471.3_Missense_Mutation_p.S412F|ADAR_ENST00000292205.5_Missense_Mutation_p.S750F	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	707					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGCATCATGGATTCCAAGTT	0.493000													17	28					0	0	0.001882	0	0
MANBA	4126	broad.mit.edu	37	4	103585980	103585980	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:103585980G>A	ENST00000226578.4	-	11	1446	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MANBA_ENST00000505239.1_Silent_p.I392I	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	449					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TCCATATGATGATAGAAGGAT	0.333000													22	36					0	0	0.003954	0	0
PDZRN4	29951	broad.mit.edu	37	12	41587911	41587911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:41587911G>A	ENST00000402685.2	+	3	772	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	255	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGACTGAAGGAATTTACGTT	0.318000													24	19					0	0	0.004656	0	0
ADCY8	114	broad.mit.edu	37	8	131921973	131921973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:131921973C>T	ENST00000286355.5	-	6	3713	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E541K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	541					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTCCAGATTCGAGTTTGTTT	0.463000										HNSCC(32;0.087)			35	46					0	0	0.001951	0	0
SLC44A3	126969	broad.mit.edu	37	1	95293164	95293164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:95293164C>T	ENST00000271227.6	+	4	482	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000467909.1_Missense_Mutation_p.S79F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.S91F|SLC44A3_ENST00000530397.1_Intron|SLC44A3_ENST00000532427.1_Intron|SLC44A3_ENST00000529450.1_Intron	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	127						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CAGCTTGACTCCCTGGAAGAG	0.517000													30	40					0	0	0.002836	0	0
MROH5	389690	broad.mit.edu	37	8	142446019	142446019	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142446019G>A	ENST00000606664.1	+	0	1375				MROH5_ENST00000430863.1_RNA																							TGACCGTGGCGACAGCTGGGC	0.672000													12	62					0	0	0.001368	0	0
CILP2	148113	broad.mit.edu	37	19	19655218	19655218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:19655218C>T	ENST00000586018.1	+	8	1984	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	CILP2_ENST00000291495.4_Missense_Mutation_p.P622S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	622						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCGTCTGCCCCCAGTGACCT	0.706000													40	103					0	0	0.001951	0	0
ACAN	176	broad.mit.edu	37	15	89381934	89381934	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:89381934C>T	ENST00000439576.2	+	3	485	c.111C>T	c.(109-111)tcC>tcT	p.S37S	ACAN_ENST00000352105.7_Silent_p.S37S|ACAN_ENST00000558207.1_Silent_p.S37S|ACAN_ENST00000561243.1_Silent_p.S37S|ACAN_ENST00000559004.1_Silent_p.S37S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	37					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCAACCGTCCCCGCTGAGGG	0.632000													26	102					0	0	0.005443	0	0
DDR1	780	broad.mit.edu	37	6	30857132	30857132	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:30857132C>T	ENST00000324771.8	+	6	890	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DDR1_ENST00000376575.3_Silent_p.F114F|DDR1_ENST00000376568.3_Silent_p.F114F|DDR1_ENST00000418800.2_Silent_p.F114F|DDR1_ENST00000376567.2_Silent_p.F114F|DDR1_ENST00000376570.4_Silent_p.F114F|DDR1_ENST00000508312.1_Silent_p.F132F|DDR1_ENST00000452441.1_Silent_p.F114F|DDR1_ENST00000454612.2_Silent_p.F114F|DDR1_ENST00000446312.1_Silent_p.F114F|DDR1_ENST00000376569.3_Silent_p.F114F|DDR1_ENST00000513240.1_Silent_p.F114F			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	114	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCAAGGAGTTCTCCCGGAGCT	0.667000													30	15					0	0	0.001512	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815352	147815352	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:147815352G>C	ENST00000361727.3	+	16	3042	c.2526G>C	c.(2524-2526)aaG>aaC	p.K842N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	842	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATATGGGAAAGGAAGATTTCA	0.463000										HNSCC(39;0.1)			5	29					0	0	0.000602	0	0
ATP1A2	477	broad.mit.edu	37	1	160109768	160109768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:160109768C>T	ENST00000361216.3	+	22	3117	c.3028C>T	c.(3028-3030)Cct>Tct	p.P1010S	ATP1A2_ENST00000392233.3_Missense_Mutation_p.P999S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1010					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCGGCGGTATCCTGGTGGTAA	0.582000													24	75					0	0	0.003954	0	0
CLCA4	22802	broad.mit.edu	37	1	87025893	87025893	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:87025893G>A	ENST00000370563.3	+	3	342		c.e3-1		CLCA4_ENST00000263723.5_Splice_Site	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4							apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AACATTCTCAGGCTGATGTTA	0.348000													19	3					0	0	0.007413	0	0
ATL3	25923	broad.mit.edu	37	11	63414031	63414031	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:63414031A>T	ENST00000398868.3	-	6	842	c.566T>A	c.(565-567)tTc>tAc	p.F189Y	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.F171Y|ATL3_ENST00000332645.4_Missense_Mutation_p.F216Y	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	189					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GTATTCTGTGAAGAGCTTTAA	0.284000													43	39					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56481919	56481919	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56481919C>T	ENST00000291971.3	+	6	2462	c.2391C>T	c.(2389-2391)gaC>gaT	p.D797D	NLRP8_ENST00000590542.1_Silent_p.D797D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	797						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTTGGAAGACTGCTTGGCCA	0.463000													23	64					0	0	0.002780	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677050	36677050	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:36677050G>A	ENST00000265113.4	+	6	1100	c.624G>A	c.(622-624)acG>acA	p.T208T	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.T208T	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	208					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCAACGAAACGCTTGTGGGTG	0.428000													7	11					0	0	0.003080	0	0
APEH	327	broad.mit.edu	37	3	49714101	49714101	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49714101C>T	ENST00000296456.5	+	8	1204	c.804C>T	c.(802-804)ttC>ttT	p.F268F	APEH_ENST00000438011.1_Silent_p.F268F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	268					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGAGCCCTTCCGGTTGGGCA	0.597000													20	39					0	0	0.001882	0	0
THEMIS	387357	broad.mit.edu	37	6	128134836	128134836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:128134836C>T	ENST00000368250.1	-	5	1211	c.713G>A	c.(712-714)aGa>aAa	p.R238K	THEMIS_ENST00000543064.1_Missense_Mutation_p.R317K|THEMIS_ENST00000537166.1_Missense_Mutation_p.R282K|THEMIS_ENST00000368248.2_Missense_Mutation_p.R317K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	317	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCTAAGATTCTTGATGCCTG	0.448000													14	14					0	0	0.003163	0	0
KRT32	3882	broad.mit.edu	37	17	39619158	39619158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39619158C>T	ENST00000225899.3	-	6	1244	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	381	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TCCAGCAGCACCTGGTACTCC	0.642000													26	74					0	0	0.007291	0	0
C2orf15	150590	broad.mit.edu	37	2	99767019	99767019	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:99767019C>T	ENST00000302513.2	+	4	736	c.100C>T	c.(100-102)Cta>Tta	p.L34L	C2orf15_ENST00000409684.1_Silent_p.L34L|TSGA10_ENST00000393483.3_Intron	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN	chromosome 2 open reading frame 15	34										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						TTCAGCTATCCTAATGGGATT	0.328000													25	82					0	0	0.005443	0	0
GABRA2	2555	broad.mit.edu	37	4	46388188	46388188	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:46388188G>A	ENST00000507460.1	-	3	422	c.90C>T	c.(88-90)atC>atT	p.I30I	GABRA2_ENST00000507069.1_Silent_p.I30I|GABRA2_ENST00000515082.1_Silent_p.I30I|GABRA2_ENST00000514090.1_Silent_p.I30I|GABRA2_ENST00000356504.1_Silent_p.I30I|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000381620.4_Silent_p.I30I|GABRA2_ENST00000510861.1_Silent_p.I30I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	30					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)	CATCTTCTTGGATGTTAGCCA	0.358000													14	19					0	0	0.004007	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257148	36257148	+	Silent	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:36257148G>T	ENST00000296604.3	-	10	1283	c.798C>A	c.(796-798)tcC>tcA	p.S266S	RANBP3L_ENST00000502994.1_Silent_p.S291S|RANBP3L_ENST00000515759.1_Silent_p.S266S	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	266					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATTCAATTAGGGAAGTATTTT	0.373000													7	28					2.0095e-06	4.02806e-06	0.001984	1	0
PCK1	5105	broad.mit.edu	37	20	56139333	56139333	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:56139333T>C	ENST00000319441.4	+	7	1234	c.1070T>C	c.(1069-1071)tTt>tCt	p.F357S	PCK1_ENST00000535860.1_Missense_Mutation_p.F225S|PCK1_ENST00000543666.1_Missense_Mutation_p.F40S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	357					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AACACAATCTTTACCAATGTG	0.527000													39	76					0	0	0.001951	0	0
SPEG	10290	broad.mit.edu	37	2	220352923	220352923	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220352923C>T	ENST00000312358.7	+	32	7881	c.7749C>T	c.(7747-7749)ccC>ccT	p.P2583P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2583	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGACTTCCCCCCAGTCTTCC	0.612000													42	104					0	0	0.003610	0	0
ZNF845	91664	broad.mit.edu	37	19	53855283	53855283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:53855283C>T	ENST00000458035.1	+	4	1472	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	ZNF845_ENST00000595091.1_Missense_Mutation_p.S452L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGTTTCAAATCGAACCTTGAA	0.393000													11	41					0	0	0.000673	0	0
NBPF1	55672	broad.mit.edu	37	1	16918448	16918448	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:16918448T>A	ENST00000430580.2	-	7	956	c.69A>T	c.(67-69)aaA>aaT	p.K23N		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	23						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGGGCGCAATTTCTCGTTGA	0.512000													56	166					0	0	0.003610	0	0
SAMD15	161394	broad.mit.edu	37	14	77845149	77845149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77845149G>A	ENST00000216471.4	+	1	1674	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	463										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						TACGCATTAGGATCTCTCAGA	0.363000													27	66					0	0	0.003954	0	0
HCRTR1	3061	broad.mit.edu	37	1	32089168	32089168	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32089168C>T	ENST00000403528.2	+	7	1168	c.783C>T	c.(781-783)ccC>ccT	p.P261P	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.P261P|HCRTR1_ENST00000373706.5_Silent_p.P261P	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	261					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGAAGCGCCCCTCAGACCAGC	0.657000													24	4					0	0	0.004656	0	0
KCNH4	23415	broad.mit.edu	37	17	40314292	40314292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40314292C>T	ENST00000264661.3	-	15	2964	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	KCNH4_ENST00000607371.1_Missense_Mutation_p.E878K	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	878					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAAACCTTTTCCTTCACCTCC	0.562000													36	55					0	0	0.003214	0	0
RBM27	54439	broad.mit.edu	37	5	145643195	145643195	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:145643195G>A	ENST00000265271.5	+	14	2497		c.e14+1		RBM27_ENST00000506502.1_Splice_Site	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27						mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATTGCCAGGTATGCATTTT	0.388000													92	62					0	0	0.003610	0	0
BEST3	144453	broad.mit.edu	37	12	70048754	70048754	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70048754T>C	ENST00000330891.5	-	10	2166	c.1940A>G	c.(1939-1941)gAa>gGa	p.E647G	BEST3_ENST00000553096.1_Missense_Mutation_p.E541G|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.E434G	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	647						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCCAGGTTTTCCATTAAATA	0.448000													7	17					0	0	0.003080	0	0
EPG5	57724	broad.mit.edu	37	18	43535083	43535083	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43535083G>A	ENST00000282041.5	-	2	319	c.285C>T	c.(283-285)tcC>tcT	p.S95S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	95					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TACACGTCAGGGACTCTTCAT	0.512000													18	28					0	0	0.001216	0	0
SSPO	23145	broad.mit.edu	37	7	149477972	149477972	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:149477972C>T	ENST00000378016.2	+	0	1743							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)			GGAGCTACTCCTTCTGGGGTG	0.677000													24	60					0	0	0.003330	0	0
SPTBN2	6712	broad.mit.edu	37	11	66455487	66455487	+	Silent	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:66455487T>A	ENST00000533211.1	-	33	6769	c.6438A>T	c.(6436-6438)ggA>ggT	p.G2146G	SPTBN2_ENST00000529997.1_Silent_p.G2146G|SPTBN2_ENST00000309996.2_Silent_p.G2146G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2146					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGAGGGCTCTCCATCTGTGC	0.577000													32	19					0	0	0.002445	0	0
TNS3	64759	broad.mit.edu	37	7	47408095	47408095	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:47408095G>A	ENST00000398879.1	-	17	2514	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	TNS3_ENST00000311160.9_Silent_p.I716I|TNS3_ENST00000355730.3_Silent_p.I476I			Q68CZ2	TENS3_HUMAN	tensin 3	716						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGTGGGTAGGGATGGGCTCGA	0.652000													69	188					0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601781	138601781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138601781G>A	ENST00000440172.1	-	2	2639	c.2591C>T	c.(2590-2592)aCc>aTc	p.T864I	KIAA1549_ENST00000242365.4_Missense_Mutation_p.T814I|KIAA1549_ENST00000422774.1_Missense_Mutation_p.T864I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	864						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCCACGACGGTCAGCTCTGT	0.602000			O	BRAF	pilocytic astrocytoma								5	29					0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100348418	100348418	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100348418G>A	ENST00000542585.1	+	0	1568				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_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)			AAGTCCTGCGGGGAGTCCCCC	0.617000													10	12					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78225449	78225449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:78225449C>T	ENST00000397909.2	+	1	381	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	NAV3_ENST00000228327.6_Missense_Mutation_p.L70F|NAV3_ENST00000536525.2_Missense_Mutation_p.L70F|NAV3_ENST00000266692.7_Missense_Mutation_p.L70F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	70						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAGAAACCCCTCCAAGGAAA	0.418000										HNSCC(70;0.22)			7	15					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446358	25446358	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:25446358C>T	ENST00000424208.1	+	0	1933				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGTCCAGCCCCTGGTGTGCTG	0.587000													18	42					0	0	0.004990	0	0
BDKRB1	623	broad.mit.edu	37	14	96731052	96731052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:96731052G>A	ENST00000216629.6	+	3	1639	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	345					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCATAGGAAAGAAATCTTCCA	0.393000													141	173					0	0	0.003610	0	0
CMAS	55907	broad.mit.edu	37	12	22215238	22215238	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:22215238C>T	ENST00000229329.2	+	7	1114	c.984C>T	c.(982-984)gcC>gcT	p.A328A		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	328					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGGCCTGTTCAAAGC	0.348000													6	5					0	0	0.003080	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261991	44261991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:44261991C>T	ENST00000315087.7	-	6	1266	c.606G>A	c.(604-606)atG>atA	p.M202I	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.M171I|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.M238I	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	202					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCCCCACATCCATGGTGTACT	0.552000													8	47					0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73848969G>A	ENST00000523207.1	+	3	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	460					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTTCGCTCGAAGTATGGAA	0.512000													24	77					0	0	0.003330	0	0
EPPIN	57119	broad.mit.edu	37	20	44174346	44174346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:44174346C>T	ENST00000354280.4	-	2	221	c.155G>A	c.(154-156)aGa>aAa	p.R52K	EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.R52K|EPPIN_ENST00000555685.1_Missense_Mutation_p.R52K|EPPIN_ENST00000409554.1_Missense_Mutation_p.R52K|EPPIN_ENST00000336443.3_Missense_Mutation_p.R36K	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		CTGGCATTGTCTGTCCTTTGT	0.433000													24	24					0	0	0.004656	0	0
SETBP1	26040	broad.mit.edu	37	18	42532130	42532130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:42532130G>A	ENST00000282030.5	+	4	3121	c.2825G>A	c.(2824-2826)cGg>cAg	p.R942Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	942						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAGGAAACGGAAAAGCCTG	0.522000									Schinzel-Giedion syndrome				5	17					0	0	0.000602	0	0
FAM129A	116496	broad.mit.edu	37	1	184764549	184764549	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:184764549C>T	ENST00000367511.3	-	14	2542	c.2349G>A	c.(2347-2349)gaG>gaA	p.E783E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	783	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCCCCAACTCCTCCCCATGGG	0.662000													103	134					0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093905	117093905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:117093905C>T	ENST00000355044.3	+	19	3277	c.3151C>T	c.(3151-3153)Cca>Tca	p.P1051S	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1051	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTATGGAGATCCAACCAATGG	0.383000													10	5					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113402906	113402906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:113402906C>T	ENST00000297405.5	-	36	6165	c.5921G>A	c.(5920-5922)gGa>gAa	p.G1974E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1934E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1870E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1904E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1974	CUB 11.					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						AATGCCAGCTCCCTCTGGCAC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	38					0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82323159	82323159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:82323159C>T	ENST00000376520.4	+	13	1987	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	TLE4_ENST00000376544.3_Missense_Mutation_p.P286S|TLE4_ENST00000376552.2_Missense_Mutation_p.P355S|TLE4_ENST00000265284.6_Missense_Mutation_p.P330S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.P387S			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.P355S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGGAGTTGACCCTTTGGGTTA	0.408000													20	57					0	0	0.003954	0	0
IL16	3603	broad.mit.edu	37	15	81582851	81582851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:81582851G>A	ENST00000394660.2	+	11	1750	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	IL16_ENST00000302987.4_Missense_Mutation_p.G464R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	464					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACCAAGTTTGGAAAGGAGAG	0.408000													35	38					0	0	0.007835	0	0
IGLV3-25	28793	broad.mit.edu	37	22	23029462	23029462	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:23029462G>A	ENST00000390305.2	+	0	107																											GGCCTCCTATGAGCTGACACA	0.567000													53	59					0	0	0.003610	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985041	140985041	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:140985041G>A	ENST00000298296.1	+	7	1497	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	MAGEC3_ENST00000443323.2_Silent_p.G121G|MAGEC3_ENST00000544766.1_Silent_p.G201G|MAGEC3_ENST00000536088.1_Silent_p.G201G|MAGEC3_ENST00000409007.1_Silent_p.G201G	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	499	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTTCGGGAAAGCCCATG	0.428000													64	103					0	0	0.003610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154672	37154672	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:37154672C>T	ENST00000262879.6	+	13	2321	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	RALGAPB_ENST00000397040.1_Silent_p.T679T|RALGAPB_ENST00000397042.3_Silent_p.T679T|RALGAPB_ENST00000397038.1_Silent_p.T457T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	679					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCAACAACACCCAAATGATAT	0.418000													23	45					0	0	0.006320	0	0
DNAH9	1770	broad.mit.edu	37	17	11568234	11568234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11568234G>A	ENST00000262442.3	+	15	2748	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R	DNAH9_ENST00000454412.2_Missense_Mutation_p.G894R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	894	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTGCTGAATGGATTCTTTCT	0.383000													25	84					0	0	0.004656	0	0
DNAH7	56171	broad.mit.edu	37	2	196720695	196720695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196720695G>A	ENST00000312428.6	-	45	8535	c.8435C>T	c.(8434-8436)cCc>cTc	p.P2812L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2812	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATCTTTTTGGGAGCTACTAT	0.358000													40	73					0	0	0.006230	0	0
GPR63	81491	broad.mit.edu	37	6	97246840	97246840	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:97246840C>T	ENST00000229955.3	-	2	1113	c.768G>A	c.(766-768)ctG>ctA	p.L256L	GPR63_ENST00000417980.1_Silent_p.L256L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	256						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACAGTATTACCAGGAAGGGTA	0.478000													28	3					0	0	0.001512	0	0
OR52A1	23538	broad.mit.edu	37	11	5173014	5173014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5173014G>A	ENST00000380367.1	-	2	1003	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	OR52A1_ENST00000328942.1_Nonsense_Mutation_p.Q196*			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	196					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTTGACTTGAACATTTGCT	0.398000													31	72					0	0	0.001512	0	0
ALMS1	7840	broad.mit.edu	37	2	73675190	73675190	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:73675190C>T	ENST00000264448.6	+	8	1644	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	ALMS1_ENST00000377715.1_Silent_p.S511S|ALMS1_ENST00000409009.1_Silent_p.S469S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	511					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCATTTATCCTTGTCCCTTG	0.423000													14	9					0	0	0.002450	0	0
MIR892B	100126307	broad.mit.edu	37	X	145078751	145078751	+	RNA	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:145078751T>G	ENST00000401279.1	-	0	41					NR_030593.1																						GCCAGTGACATAAAATCTACA	0.512000													4	8					0	0	0.000602	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373945	62373945	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:62373945T>A	ENST00000266077.2	+	6	989	c.937T>A	c.(937-939)Tgt>Agt	p.C313S	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	313						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCCAGTCCTGTCACAGTGA	0.706000													9	23					0	0	0.006214	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399010	22399010	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:22399010T>C	ENST00000263160.3	+	12	1910	c.1473T>C	c.(1471-1473)gtT>gtC	p.V491V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	491					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATGGTGGAGTTATATTTTATG	0.458000													11	30					0	0	0.000673	0	0
NOS3	4846	broad.mit.edu	37	7	150707276	150707276	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:150707276C>T	ENST00000297494.3	+	21	2943	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	NOS3_ENST00000461406.1_Silent_p.F656F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	862	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCACCTTCTTCCTGGACATCA	0.692000													62	78					0	0	0.003610	0	0
CDCA7L	55536	broad.mit.edu	37	7	21945995	21945995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21945995G>A	ENST00000406877.3	-	6	1112	c.833C>T	c.(832-834)cCt>cTt	p.P278L	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P244L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P232L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	278					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAACTTCTCAGGAGGCCGCGC	0.517000													36	87					0	0	0.006230	0	0
DNAH3	55567	broad.mit.edu	37	16	21031095	21031095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21031095G>A	ENST00000261383.3	-	41	5872	c.5873C>T	c.(5872-5874)tCc>tTc	p.S1958F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1958					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACACCAAGGAAAAGAGAAA	0.468000													10	13					0	0	0.000978	0	0
COL4A3	1285	broad.mit.edu	37	2	228102734	228102734	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228102734G>A	ENST00000396578.3	+	2	300	c.138G>A	c.(136-138)ggG>ggA	p.G46G	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	46	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGCCAAAGGGGAGAAGGTAA	0.423000													24	49					0	0	0.003954	0	0
DNAH7	56171	broad.mit.edu	37	2	196728987	196728987	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196728987A>T	ENST00000312428.6	-	41	7492	c.7392T>A	c.(7390-7392)caT>caA	p.H2464Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2464	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCTGCGGCAATGATCAATAA	0.463000													37	21					0	0	0.006230	0	0
OR4C12	283093	broad.mit.edu	37	11	50004035	50004035	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:50004035C>T	ENST00000335238.4	-	1	36	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTCTTCTCCATCTATGTAG	0.318000													10	21					0	0	0.001368	0	0
DSC1	1823	broad.mit.edu	37	18	28722032	28722032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:28722032C>T	ENST00000257197.3	-	9	1451	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E	DSC1_ENST00000257198.5_Missense_Mutation_p.G397E|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	397	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTTCATTTCCTTGTAGGAT	0.363000													75	43					0	0	0.003610	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428654	120428654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:120428654C>T	ENST00000222747.3	-	8	1517	c.910G>A	c.(910-912)Gag>Aag	p.E304K	TSPAN12_ENST00000415871.1_Missense_Mutation_p.E304K	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	304					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTTTATAACTCCTCCATCTCA	0.358000													18	59					0	0	0.001216	0	0
SSFA2	6744	broad.mit.edu	37	2	182779945	182779945	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:182779945T>C	ENST00000431877.2	+	11	1757	c.1578T>C	c.(1576-1578)gtT>gtC	p.V526V	SSFA2_ENST00000428267.2_Silent_p.V373V|SSFA2_ENST00000320370.7_Silent_p.V526V|SSFA2_ENST00000409136.1_Silent_p.V35V|SSFA2_ENST00000409001.1_Silent_p.V526V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	526						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCACAGGTTCAGGAGTCCT	0.418000													51	36					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481972	140481972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140481972C>T	ENST00000231130.2	+	1	1739	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		580	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCGGGCGGCTGAGCCGGGC	0.711000													27	159					0	0	0.004878	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222243	118222243	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:118222243T>A	ENST00000402510.2	-	11	2949	c.2950A>T	c.(2950-2952)Aaa>Taa	p.K984*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	984										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAAAGAAGTTTAGGAGGCAGA	0.453000													9	31					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196834754	196834754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196834754G>A	ENST00000312428.6	-	17	2223	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	708	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCCAAATGAATAAAATTC	0.328000													11	16					0	0	0.001368	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41609932	41609932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:41609932G>A	ENST00000216237.5	+	3	456	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	100					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTACAAGGGAAGCCTTCTT	0.507000													55	141					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492249	85492249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:85492249C>T	ENST00000393217.2	+	12	3065	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1002										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTCCCATAATCATCTTACTGA	0.333000													12	20					0	0	0.001368	0	0
POLE	5426	broad.mit.edu	37	12	133225985	133225985	+	Silent	SNP	G	G	A	rs116482376	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:133225985G>A	ENST00000320574.5	-	31	3955	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	POLE_ENST00000535270.1_Silent_p.P1277P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1304					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)		GGATGGCCCCGGGCCTGAGCA	0.662000								DNA polymerases (catalytic subunits)					27	47					0	0	0.005443	0	0
FERMT1	55612	broad.mit.edu	37	20	6091073	6091073	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:6091073G>A	ENST00000217289.4	-	5	1406	c.618C>T	c.(616-618)ttC>ttT	p.F206F	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	206	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGCTGTCACTGAACCAAGTCA	0.522000													36	43					0	0	0.006230	0	0
LRRC45	201255	broad.mit.edu	37	17	79983359	79983359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79983359C>T	ENST00000306688.3	+	5	979	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	213						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAACAACATCCCTGGAGACGT	0.652000													17	56					0	0	0.007413	0	0
MMP3	4314	broad.mit.edu	37	11	102711287	102711287	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102711287G>A	ENST00000299855.5	-	5	919	c.663C>T	c.(661-663)ggC>ggT	p.G221G		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	221					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCAGGGAGTGGCCAATTTCAT	0.418000													11	24					0	0	0.000673	0	0
PIM1	5292	broad.mit.edu	37	6	37140803	37140803	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:37140803C>T	ENST00000373509.5	+	5	1012	c.639C>T	c.(637-639)atC>atT	p.I213I	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	304	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGAGTGGATCCGCTACCATC	0.517000			T	BCL6	NHL								22	65					0	0	0.003330	0	0
SCN1A	6323	broad.mit.edu	37	2	166848852	166848852	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166848852G>C	ENST00000423058.2	-	26	4950	c.4933C>G	c.(4933-4935)Cga>Gga	p.R1645G	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1617G|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1645G|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1634G	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1645			R -> Q (in SMEI; dbSNP:rs121917976).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTAGGATTCGGCCAATCCTA	0.473000													6	11					0	0	0.001168	0	0
PLAG1	5324	broad.mit.edu	37	8	57080009	57080009	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:57080009T>A	ENST00000316981.3	-	5	775	c.296A>T	c.(295-297)aAa>aTa	p.K99I	PLAG1_ENST00000423799.2_Missense_Mutation_p.K17I|PLAG1_ENST00000429357.2_Missense_Mutation_p.K99I	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	99	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGAAACATTTTCTCACAATA	0.373000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								5	15					0	0	0.000602	0	0
BTRC	8945	broad.mit.edu	37	10	103292778	103292778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:103292778C>T	ENST00000370187.3	+	9	1166	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	BTRC_ENST00000393441.4_Nonsense_Mutation_p.Q309*|BTRC_ENST00000408038.2_Nonsense_Mutation_p.Q314*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	350					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCTCTGTCTCCAGTATGATGA	0.408000													35	52					0	0	0.004289	0	0
ZNF689	115509	broad.mit.edu	37	16	30616651	30616651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:30616651G>A	ENST00000287461.3	-	3	774	c.437C>T	c.(436-438)tCc>tTc	p.S146F	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGCCCCCGGACGTCTGCCT	0.602000													47	89					0	0	0.003214	0	0
NOB1	28987	broad.mit.edu	37	16	69782187	69782187	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:69782187T>G	ENST00000268802.5	-	7	801	c.772A>C	c.(772-774)Atg>Ctg	p.M258L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	258						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAATCAGCATGCCGTTCACC	0.498000													25	21					0	0	0.001786	0	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932909	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:148932909C>T	ENST00000539543.1	+	0	165					NR_027355.1																						GGCCAAGACTCCGTCCTGCAA	0.607000													7	152					0	0	0.006214	0	0
COL3A1	1281	broad.mit.edu	37	2	189849503	189849503	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189849503T>A	ENST00000304636.3	+	2	267	c.97T>A	c.(97-99)Tcc>Acc	p.S33T	COL3A1_ENST00000317840.5_Missense_Mutation_p.S33T	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	33	VWFC.				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)	AGGAGGATGTTCCCATCTTGG	0.418000													17	40					0	0	0.006122	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021077	51021077	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51021077G>A	ENST00000599957.1	-	3	2090	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	LRRC4B_ENST00000389201.3_Silent_p.S631S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	631						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGCGGCCACGGACACGGCCG	0.726000													13	20					0	0	0.001855	0	0
TRPC6	7225	broad.mit.edu	37	11	101375483	101375483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:101375483G>A	ENST00000344327.3	-	2	641	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	TRPC6_ENST00000360497.4_Missense_Mutation_p.R73C|TRPC6_ENST00000532133.1_Missense_Mutation_p.R73C|TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000348423.4_Missense_Mutation_p.R73C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	73					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCTTCTCACGGAGAACTGTC	0.468000													21	11					0	0	0.003954	0	0
NLRP3	114548	broad.mit.edu	37	1	247588813	247588813	+	Missense_Mutation	SNP	G	G	A	rs104895414		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247588813G>A	ENST00000366497.2	+	4	2848	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	NLRP3_ENST00000391827.2_Missense_Mutation_p.E690K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E690K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.E690K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E690K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E690K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	690	Poly-Glu.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATGCCCAAGGAGGAAGAGGA	0.517000													10	50					0	0	0.000978	0	0
NUDT9	53343	broad.mit.edu	37	4	88362986	88362986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:88362986C>T	ENST00000473942.1	+	4	421	c.299C>T	c.(298-300)cCt>cTt	p.P100L	NUDT9_ENST00000302174.4_Missense_Mutation_p.P150L	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	150						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TCCAGAAATCCTGCAGGACGG	0.423000													10	9					0	0	0.000673	0	0
BAI2	576	broad.mit.edu	37	1	32193867	32193867	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32193867G>A	ENST00000373658.3	-	31	4772	c.4431C>T	c.(4429-4431)acC>acT	p.T1477T	BAI2_ENST00000527361.1_Silent_p.T1443T|BAI2_ENST00000373655.2_Silent_p.T1476T|BAI2_ENST00000398538.1_Silent_p.T1465T|BAI2_ENST00000398556.3_Silent_p.T1392T|BAI2_ENST00000398547.1_Silent_p.T1410T|BAI2_ENST00000398542.1_Silent_p.T1377T|BAI2_ENST00000257070.4_Silent_p.T1443T|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.T1086T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1477					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCGTTTCCGGGTGTGCATCA	0.642000													15	14					0	0	0.007413	0	0
ATG9A	79065	broad.mit.edu	37	2	220090285	220090285	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220090285G>A	ENST00000409618.1	-	6	661	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ATG9A_ENST00000396761.2_Silent_p.L74L|ATG9A_ENST00000409422.1_Silent_p.L13L|ATG9A_ENST00000361242.4_Silent_p.L74L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	74					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACCACAAAGAGGAACTGCC	0.547000													32	10					0	0	0.002836	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774729	100774729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:100774729C>T	ENST00000323346.5	+	2	665	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q118*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	118					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACCGGAAATTCAGGTTGGTAT	0.478000													23	81					0	0	0.003954	0	0
LRRC32	2615	broad.mit.edu	37	11	76372013	76372013	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:76372013G>A	ENST00000407242.2	-	3	866	c.624C>T	c.(622-624)tcC>tcT	p.S208S	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.S208S|LRRC32_ENST00000404995.1_Silent_p.S208S|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	208						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGCAGGTGAGGGAATTCCTGG	0.617000													21	48					0	0	0.001882	0	0
PCDH19	57526	broad.mit.edu	37	X	99661937	99661937	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:99661937G>A	ENST00000373034.4	-	1	3334	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	PCDH19_ENST00000420881.2_Silent_p.I553I|PCDH19_ENST00000255531.7_Silent_p.I553I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGACGTCGAGGATGATGACCC	0.587000													62	152					0	0	0.003610	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735816	55735816	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55735816T>A	ENST00000312345.2	-	1	174	c.124A>T	c.(124-126)Att>Ttt	p.I42F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCGGGGTGAATTTTTATTAGT	0.338000													28	55					0	0	0.007291	0	0
NXPH1	30010	broad.mit.edu	37	7	8790859	8790859	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:8790859G>A	ENST00000405863.1	+	3	1187	c.276G>A	c.(274-276)agG>agA	p.R92R	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	92	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACTGGCTGAGGAACTCCACAG	0.478000													14	21					0	0	0.001855	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169099	50169099	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50169099C>T	ENST00000246785.3	+	1	277	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	IRF3_ENST00000597198.1_5'UTR|IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.L7L|BCL2L12_ENST00000441864.2_Silent_p.L7L|IRF3_ENST00000377139.3_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	7					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GCCCGCTGGGCTGTTCCCGCC	0.537000													79	78					0	0	0.003610	0	0
TTC14	151613	broad.mit.edu	37	3	180327541	180327541	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:180327541C>T	ENST00000296015.4	+	12	1656	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Silent_p.N508N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	508	Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAAGAGGAACCGTTCAGAGT	0.428000													23	12					0	0	0.001882	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957575	52957575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:52957575C>T	ENST00000281741.4	-	10	1276	c.905G>A	c.(904-906)gGa>gAa	p.G302E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	302					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GAGTAGAACTCCTGCTTTTCC	0.363000													9	38					0	0	0.004482	0	0
NARF	26502	broad.mit.edu	37	17	80436782	80436782	+	Silent	SNP	C	C	T	rs138767616		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:80436782C>T	ENST00000390006.4	+	6	924	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NARF_ENST00000412079.2_Silent_p.F81F|NARF_ENST00000309794.10_Silent_p.F209F|NARF_ENST00000345415.7_Silent_p.F161F|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000457415.3_Silent_p.F209F	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	209						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGATTATTTCGCCAGACAGC	0.637000													22	10					0	0	0.003954	0	0
ZNF620	253639	broad.mit.edu	37	3	40547794	40547794	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:40547794G>A	ENST00000314529.6	+	2	100		c.e2-1		ZNF620_ENST00000418905.1_Splice_Site	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTTCTCTTCAGTTTCACTTCT	0.582000													24	22					0	0	0.004656	0	0
PFAS	5198	broad.mit.edu	37	17	8166545	8166545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:8166545C>T	ENST00000314666.6	+	13	1662	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L	PFAS_ENST00000545834.1_Missense_Mutation_p.P86L|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	510					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGGGAAACCCCATCTGCAGC	0.572000													33	99					0	0	0.001951	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529428	5529428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5529428C>T	ENST00000311659.4	-	2	1508	c.1361G>A	c.(1360-1362)aGg>aAg	p.R454K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	454										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGGAACCCTGTTGGCAGA	0.547000													5	13					0	0	0.001984	0	0
SPEG	10290	broad.mit.edu	37	2	220350099	220350099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220350099G>A	ENST00000312358.7	+	31	7773	c.7641G>A	c.(7639-7641)tgG>tgA	p.W2547*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2547					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCTCCGCTGGGGCTTCTCTC	0.612000													46	91					0	0	0.003610	0	0
SPIRE2	84501	broad.mit.edu	37	16	89925619	89925619	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89925619C>G	ENST00000378247.3	+	9	1362	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	SPIRE2_ENST00000393062.2_Missense_Mutation_p.S440C	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	440					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CGGGACCGCTCCTTCTCAGAG	0.677000													20	31					0	0	0.002299	0	0
EXOC3	11336	broad.mit.edu	37	5	464438	464438	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:464438C>T	ENST00000512944.1	+	10	1876	c.1687C>T	c.(1687-1689)Cta>Tta	p.L563L	EXOC3_ENST00000315013.5_Silent_p.L563L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	574					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAAGAAGTGGCTATTAGGGTC	0.423000													27	64					0	0	0.006320	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604633	58604633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:58604633C>T	ENST00000287275.1	-	5	721	c.331G>A	c.(331-333)Gat>Aat	p.D111N	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.D111N	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	111						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ATTGCTTCATCCAAGCCCTCT	0.398000													12	46					0	0	0.001368	0	0
CDHR1	92211	broad.mit.edu	37	10	85971427	85971427	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:85971427C>T	ENST00000372117.3	+	14	1612	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	CDHR1_ENST00000332904.3_Silent_p.P503P|CDHR1_ENST00000440770.2_Silent_p.P207P	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	503	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATACAGGACCCTGGGGCGAAG	0.572000													37	55					0	0	0.002222	0	0
LRRC43	254050	broad.mit.edu	37	12	122674873	122674873	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:122674873C>A	ENST00000339777.4	+	5	887	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	LRRC43_ENST00000425921.1_Missense_Mutation_p.P102T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	287	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CACCGTGTCTCCCAATGAGAA	0.652000													31	51					5.45727e-16	1.10156e-15	0.001512	1	0
DOCK4	9732	broad.mit.edu	37	7	111430624	111430624	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:111430624G>A	ENST00000428084.1	-	31	3476	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	DOCK4_ENST00000437633.1_Silent_p.G1068G			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1068					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTAGGAAGGGGCCAATCAGGG	0.398000													4	11					0	0	0.000248	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:48346606C>T	ENST00000319856.4	+	1	135	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000													10	15					0	0	0.006214	0	0
TOP2A	7153	broad.mit.edu	37	17	38572723	38572723	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38572723C>T	ENST00000423485.1	-	3	377	c.219G>A	c.(217-219)agG>agA	p.R73R		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	73					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AAGTGACTTCCCTATAGTTAA	0.303000													11	27					0	0	0.003163	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181806	57181806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:57181806C>T	ENST00000504228.1	+	6	2243	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P713L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P706L			Q6ZU35	K1211_HUMAN	KIAA1211	713										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGGAAGACTCCGCCAGTCAAT	0.582000													36	38					0	0	0.003755	0	0
HELZ2	85441	broad.mit.edu	37	20	62195163	62195163	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:62195163G>T	ENST00000467148.1	-	8	5081	c.5012C>A	c.(5011-5013)gCc>gAc	p.A1671D	HELZ2_ENST00000427522.2_Missense_Mutation_p.A1102D	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGGCGAGGTGGCCCACGTGTA	0.701000													7	8					0.00307968	0.00613492	0.003080	1	0
ZCCHC13	389874	broad.mit.edu	37	X	73524206	73524206	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73524206T>C	ENST00000339534.2	+	1	182	c.105T>C	c.(103-105)ggT>ggC	p.G35G		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	35							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATGGCAGAGGTTCTCAATGTG	0.547000													22	18					0	0	0.002780	0	0
F2RL1	2150	broad.mit.edu	37	5	76129186	76129186	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:76129186C>T	ENST00000296677.4	+	2	960	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	252					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGGGGTCTTTCTGTTCCCAGC	0.502000													177	379					0	0	0.003610	0	0
MYO5C	55930	broad.mit.edu	37	15	52521417	52521417	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:52521417C>T	ENST00000261839.7	-	25	3281	c.3120G>A	c.(3118-3120)aaG>aaA	p.K1040K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1040						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGAGTTGCATCTTCTCATCCT	0.478000													43	52					0	0	0.001951	0	0
ULBP3	79465	broad.mit.edu	37	6	150385786	150385786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:150385786C>T	ENST00000367339.1	-	4	720	c.692G>A	c.(691-693)tGg>tAg	p.W231*	ULBP3_ENST00000438272.2_Nonsense_Mutation_p.W231*			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	231					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.W231L(1)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GAGGAAGCTCCAGGGACTGAG	0.532000													70	7					0	0	0.003610	0	0
NCSTN	23385	broad.mit.edu	37	1	160326129	160326129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:160326129C>T	ENST00000368063.1	+	15	1851	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	NCSTN_ENST00000294785.5_Missense_Mutation_p.S544F|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.S524F|NCSTN_ENST00000535857.1_Missense_Mutation_p.S406F|NCSTN_ENST00000368065.4_Missense_Mutation_p.S286F			Q92542	NICA_HUMAN	nicastrin	544					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCTAAGGTCCTACTTGGGT	0.428000													36	52					0	0	0.005524	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625526	111625526	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:111625526G>A	ENST00000333999.3	+	1	924	c.924G>A	c.(922-924)gaG>gaA	p.E308E		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	308						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGGGAAGGAGATTCAGCTGT	0.542000													23	63					0	0	0.002780	0	0
JARID2	3720	broad.mit.edu	37	6	15496948	15496948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:15496948C>T	ENST00000341776.2	+	7	1736	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	JARID2_ENST00000397311.3_Missense_Mutation_p.R326W|JARID2_ENST00000541660.1_Missense_Mutation_p.R460W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	498					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGAGAGGAATCGGCCGAAGCG	0.652000													16	49					0	0	0.001523	0	0
KIF2B	84643	broad.mit.edu	37	17	51901924	51901924	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:51901924G>A	ENST00000268919.4	+	1	1686	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	510					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTATAGGCCAGAACTCCTCCA	0.458000													13	51					0	0	0.001368	0	0
PAK7	57144	broad.mit.edu	37	20	9543669	9543669	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9543669G>A	ENST00000378429.3	-	7	2031	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	PAK7_ENST00000378423.1_Silent_p.V495V|PAK7_ENST00000353224.5_Silent_p.V495V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	495	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCATGATCACGACCTGGGGAA	0.453000													29	101					0	0	0.003755	0	0
DNAH2	146754	broad.mit.edu	37	17	7630551	7630551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:7630551C>T	ENST00000572933.1	+	4	1800	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L114F|DNAH2_ENST00000082259.3_Missense_Mutation_p.L114F|DNAH2_ENST00000570791.1_Missense_Mutation_p.L114F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	114	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAATCCATCCTCACCATCTT	0.542000													55	35					0	0	0.003610	0	0
C1orf61	10485	broad.mit.edu	37	1	156377662	156377662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156377662C>T	ENST00000368243.1	-	5	393	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	93						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GCCATCACATCGGGGACTTGA	0.557000													12	27					0	0	0.001855	0	0
GNGT2	2793	broad.mit.edu	37	17	47284153	47284153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:47284153G>A	ENST00000511277.1	-	4	355	c.176C>T	c.(175-177)cCc>cTc	p.P59L	GNGT2_ENST00000515635.1_Missense_Mutation_p.P59L|GNGT2_ENST00000511673.1_Missense_Mutation_p.P59L|GNGT2_ENST00000507680.1_Missense_Mutation_p.P59L|GNGT2_ENST00000300406.2_Missense_Mutation_p.P59L|GNGT2_ENST00000503070.1_Missense_Mutation_p.P59L	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	59					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CTCCTTGAAGGGATTCTTGTC	0.532000													37	61					0	0	0.004289	0	0
CLVS1	157807	broad.mit.edu	37	8	62212400	62212400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:62212400C>T	ENST00000519846.1	+	3	486	c.14C>T	c.(13-15)tCt>tTt	p.S5F	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.S5F			Q8IUQ0	CLVS1_HUMAN	clavesin 1	5					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGACCAGTCTCTCTTCTTCCA	0.463000													6	17					0	0	0.001984	0	0
C14orf93	60686	broad.mit.edu	37	14	23465426	23465426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23465426G>A	ENST00000299088.6	-	3	1078	c.649C>T	c.(649-651)Cct>Tct	p.P217S	C14orf93_ENST00000341470.4_Missense_Mutation_p.P217S|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.P217S|C14orf93_ENST00000406429.2_Missense_Mutation_p.P217S|C14orf93_ENST00000397382.4_Missense_Mutation_p.P217S|C14orf93_ENST00000397377.1_Missense_Mutation_p.P37S|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	217						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCATAAGCAGGGACCAGAACT	0.532000													50	58					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54542502	54542502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:54542502G>A	ENST00000545554.1	+	7	3308	c.3308G>A	c.(3307-3309)tGg>tAg	p.W1103*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.W1103*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W1101*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1103					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGAGGTCTGGACGGCTACC	0.493000													10	29					0	0	0.000673	0	0
LRIT1	26103	broad.mit.edu	37	10	85992033	85992033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:85992033C>T	ENST00000372105.3	-	4	1543	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	508	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ACACACTGCTCCTTCCGGGGC	0.542000													7	7					0	0	0.003080	0	0
OR14C36	127066	broad.mit.edu	37	1	248512185	248512185	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248512185C>T	ENST00000317861.1	+	1	109	c.109C>T	c.(109-111)Cta>Tta	p.L37L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTTGGTAACTCTAATGGGAAA	0.438000													17	23					0	0	0.006122	0	0
GAREM	64762	broad.mit.edu	37	18	29848634	29848634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:29848634G>A	ENST00000399218.4	-	6	1883	c.1828C>T	c.(1828-1830)Ccg>Tcg	p.P610S	GAREM_ENST00000269209.6_Missense_Mutation_p.P611S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CTTCCAAACGGGGATTTCAGG	0.483000													5	19					0	0	0.000602	0	0
ATP10B	23120	broad.mit.edu	37	5	160115067	160115067	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:160115067C>T	ENST00000327245.5	-	5	861	c.15G>A	c.(13-15)gtG>gtA	p.V5V	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	5					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGATGAGTCCACTGAGAGGG	0.532000													9	14					0	0	0.006214	0	0
SLC33A1	9197	broad.mit.edu	37	3	155547507	155547507	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:155547507G>A	ENST00000392845.2	-	5	1832	c.1452C>T	c.(1450-1452)aaC>aaT	p.N484N	SLC33A1_ENST00000359479.3_Silent_p.N484N	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	484					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACAATTCTGGTTTGATGCTC	0.368000													25	38					0	0	0.004656	0	0
TDRD9	122402	broad.mit.edu	37	14	104452583	104452583	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104452583G>A	ENST00000409874.4	+	8	1089	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	TDRD9_ENST00000339063.5_Silent_p.V347V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	347					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGAACCGGTGATAACTAAGG	0.413000													21	21					0	0	0.005443	0	0
TEK	7010	broad.mit.edu	37	9	27157949	27157949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:27157949G>A	ENST00000380036.4	+	2	615	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TEK_ENST00000406359.4_Missense_Mutation_p.G58E|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	58	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCACCATAGGAAGGGACTTT	0.478000													17	23					0	0	0.007413	0	0
PRF1	5551	broad.mit.edu	37	10	72358523	72358523	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:72358523G>A	ENST00000441259.1	-	3	1114	c.954C>T	c.(952-954)atC>atT	p.I318I	PRF1_ENST00000373209.2_Silent_p.I318I	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	318	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCCCGGCCTGGATCCCGAACA	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				32	35					0	0	0.003271	0	0
NXPH4	11247	broad.mit.edu	37	12	57619154	57619154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57619154G>A	ENST00000349394.5	+	2	726	c.551G>A	c.(550-552)gGg>gAg	p.G184E	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	184	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCTGGAGGGGGTGCTTCCT	0.746000													30	57					0	0	0.001786	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183150	140183150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140183150G>A	ENST00000522353.2	+	1	2368	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D790N|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAACAGGATGTGGACGT	0.453000													35	74					0	0	0.002836	0	0
COL3A1	1281	broad.mit.edu	37	2	189866135	189866135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189866135C>T	ENST00000304636.3	+	33	2466	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P766S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	766	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			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)	TCCTACTGGTCCTATTGGTCC	0.358000													34	32					0	0	0.006999	0	0
BAIAP2	10458	broad.mit.edu	37	17	79090085	79090085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79090085C>T	ENST00000321300.6	+	15	1732	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C		NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	547					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGGAGCGCCCGCACCCTGGC	0.637000													36	65					0	0	0.001951	0	0
MUC5B	727897	broad.mit.edu	37	11	1281225	1281225	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1281225C>A	ENST00000447027.1	+	46	16900	c.16842C>A	c.(16840-16842)gaC>gaA	p.D5614E	MUC5B_ENST00000529681.1_Missense_Mutation_p.D5611E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5611					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCATGTGGACAACTGCACCG	0.567000													113	43					5.99808e-64	1.21925e-63	0.003610	1	0
GPR149	344758	broad.mit.edu	37	3	154056018	154056018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:154056018C>T	ENST00000389740.2	-	4	1765	c.1666G>A	c.(1666-1668)Ggg>Agg	p.G556R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	556						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACACAGTCCCCTGGAATGCA	0.448000													18	33					0	0	0.001523	0	0
CSF3	1440	broad.mit.edu	37	17	38172855	38172855	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38172855G>T	ENST00000331769.2	+	3	625	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	CSF3_ENST00000577675.1_Missense_Mutation_p.A101S|CSF3_ENST00000394149.3_Missense_Mutation_p.A141S|CSF3_ENST00000225474.2_Missense_Mutation_p.A144S|CSF3_ENST00000394148.3_Missense_Mutation_p.A108S			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	144					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCTGGACGTCGCCGACTTTGC	0.632000													37	73					4.92203e-23	9.96309e-23	0.006230	1	0
SLC35A5	55032	broad.mit.edu	37	3	112289432	112289432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:112289432C>T	ENST00000492406.1	+	4	558	c.275C>T	c.(274-276)tCt>tTt	p.S92F	SLC35A5_ENST00000460713.1_Intron	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	92						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AAGGAATTCTCTGATTTCATG	0.358000													29	69					0	0	0.005443	0	0
KRT36	8689	broad.mit.edu	37	17	39645937	39645937	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39645937C>T	ENST00000393986.2	-	2	242	c.30G>A	c.(28-30)ggG>ggA	p.G10G	KRT36_ENST00000328119.6_Silent_p.G60G			O76013	KRT36_HUMAN	keratin 36	60	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCAAGCAGCTCCCAAGGCCAG	0.642000													15	65					0	0	0.003163	0	0
POP1	10940	broad.mit.edu	37	8	99152397	99152397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:99152397C>T	ENST00000401707.2	+	10	1535	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	POP1_ENST00000349693.3_Missense_Mutation_p.A485V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	485					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGACAAGAAGCCATTTTCGAG	0.502000													11	21					0	0	0.000978	0	0
CCDC37	348807	broad.mit.edu	37	3	126137599	126137599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126137599C>T	ENST00000393425.1	+	7	734	c.635C>T	c.(634-636)tCc>tTc	p.S212F	CCDC37_ENST00000505024.1_Missense_Mutation_p.S212F|CCDC37_ENST00000352312.1_Missense_Mutation_p.S211F			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	211										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GACTGCAGCTCCGTGCAGGCC	0.652000													7	14					0	0	0.000673	0	0
SSR2	6746	broad.mit.edu	37	1	155988123	155988123	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155988123G>A	ENST00000295702.4	-	3	263	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SSR2_ENST00000480567.1_Silent_p.F64F|SSR2_ENST00000496742.1_Intron|SSR2_ENST00000529008.1_Silent_p.F64F	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	64					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCTGGAGGGAAGGAATCAT	0.468000													31	100					0	0	0.005524	0	0
HNF1A	6927	broad.mit.edu	37	12	121416797	121416797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:121416797G>A	ENST00000257555.6	+	1	452	c.226G>A	c.(226-228)Gac>Aac	p.D76N	HNF1A_ENST00000400024.2_Missense_Mutation_p.D76N|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000538626.1_Intron|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.D76N|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000402929.1_Missense_Mutation_p.D76N|HNF1A_ENST00000541395.1_Missense_Mutation_p.D76N			P20823	HNF1A_HUMAN	HNF1 homeobox A	76	Asp/Glu-rich (acidic; potential involvement with transcription).				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAGACGGACGACGATGGGGA	0.672000									Hepatic Adenoma, Familial Clustering of				110	231					0	0	0.003610	0	0
C6orf165	154313	broad.mit.edu	37	6	88144696	88144696	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:88144696G>C	ENST00000507897.1	+	11	1502	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.K473N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	473										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTAGAGAAAAGGCCAAAAAAA	0.269000													31	3					0	0	0.001512	0	0
USP26	83844	broad.mit.edu	37	X	132161645	132161645	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:132161645C>G	ENST00000511190.1	-	6	1073	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	USP26_ENST00000370832.1_Missense_Mutation_p.E202Q|USP26_ENST00000406273.1_Missense_Mutation_p.E202Q	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	202					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTGTATTCTACAGAATTA	0.348000													7	10					0	0	0.001984	0	0
M1AP	130951	broad.mit.edu	37	2	74834299	74834299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:74834299C>T	ENST00000290536.5	-	4	594	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.E160K|M1AP_ENST00000536235.1_Missense_Mutation_p.E160K	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTCAACCCTTCCTCCAACTGT	0.453000													24	63					0	0	0.001786	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870877	12870877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:12870877C>T	ENST00000228872.4	+	1	820	c.104C>T	c.(103-105)cCg>cTg	p.P35L	CDKN1B_ENST00000396340.1_Missense_Mutation_p.P35L|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	35					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTCTTCGGCCCGGTGGACCAC	0.592000													85	41					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776537	77776537	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:77776537C>T	ENST00000521891.2	+	11	11035	c.10587C>T	c.(10585-10587)atC>atT	p.I3529I	ZFHX4_ENST00000455469.2_Silent_p.I3484I|ZFHX4_ENST00000518282.1_Silent_p.I3503I|ZFHX4_ENST00000050961.6_Silent_p.I3480I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3480	Ser-rich.					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)			GGCCTAATATCCTTTTCCAAG	0.498000										HNSCC(33;0.089)			8	12					0	0	0.004482	0	0
CHD8	57680	broad.mit.edu	37	14	21870196	21870196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:21870196C>T	ENST00000399982.2	-	19	4046	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	CHD8_ENST00000557364.1_Missense_Mutation_p.E1328K|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.E1049K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1328					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCAATGTCCTCTTCACAAAAC	0.418000													20	70					0	0	0.001882	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712537	46712537	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:46712537G>A	ENST00000318962.4	-	26	2882	c.2799C>T	c.(2797-2799)atC>atT	p.I933I	ALS2CL_ENST00000415953.1_Silent_p.I933I|ALS2CL_ENST00000383742.3_Silent_p.I280I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	933	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTTCTTTCTGGATGTGCTCGT	0.577000													48	95					0	0	0.003610	0	0
OTOA	146183	broad.mit.edu	37	16	21739615	21739615	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21739615T>C	ENST00000388958.3	+	19	2071	c.2070T>C	c.(2068-2070)tgT>tgC	p.C690C	OTOA_ENST00000388957.3_Silent_p.C366C|OTOA_ENST00000286149.4_Silent_p.C704C|OTOA_ENST00000388956.4_Silent_p.C611C	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	704					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACCTGCTGTGTCACTTGCCGG	0.567000													17	11					0	0	0.007413	0	0
ELN	2006	broad.mit.edu	37	7	73474706	73474706	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:73474706G>C	ENST00000252034.7	+	25	2021	c.1621_splice	c.e25-1	p.R541_splice	ELN_ENST00000357036.5_Splice_Site_p.R546_splice|ELN_ENST00000414324.1_Splice_Site_p.R517_splice|ELN_ENST00000380553.4_Splice_Site_p.R405_splice|ELN_ENST00000380562.4_Splice_Site_p.R547_splice|ELN_ENST00000380575.4_Splice_Site_p.R512_splice|ELN_ENST00000380584.4_Splice_Site_p.G493_splice|ELN_ENST00000320399.6_Splice_Site_p.R541_splice|ELN_ENST00000320492.7_Splice_Site_p.R460_splice|ELN_ENST00000380576.5_Splice_Site_p.R522_splice|ELN_ENST00000358929.4_Splice_Site_p.R576_splice|ELN_ENST00000458204.1_Splice_Site_p.R531_splice|ELN_ENST00000445912.1_Splice_Site_p.R541_splice|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Splice_Site_p.R527_splice	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	570	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGTCTGCAGGAGCTGCAGCT	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						45	73					0	0	0.002852	0	0
OR10G7	390265	broad.mit.edu	37	11	123909348	123909348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:123909348G>A	ENST00000330487.5	-	1	369	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCAGGTAGCGATCATAGGAC	0.572000													14	25					0	0	0.003163	0	0
VTN	7448	broad.mit.edu	37	17	26695044	26695044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:26695044C>T	ENST00000226218.4	-	7	1634	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	339					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CACACCGTGCCAGTCCCGGCT	0.622000													4	9					0	0	0.000248	0	0
FPR1	2357	broad.mit.edu	37	19	52249678	52249678	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:52249678C>T	ENST00000595042.1	-	3	711	c.570G>A	c.(568-570)agG>agA	p.R190R	FPR1_ENST00000304748.4_Silent_p.R190R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	190			R -> W (in dbSNP:rs5030880).		activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCACATTTATCCTCTCTTTAG	0.498000													9	25					0	0	0.004482	0	0
CAPN12	147968	broad.mit.edu	37	19	39233680	39233680	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:39233680C>T	ENST00000328867.4	-	2	608	c.300G>A	c.(298-300)ggG>ggA	p.G100G	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	100	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G100G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CACCCAGGCTCCCCTGACACA	0.592000													15	46					0	0	0.007413	0	0
DEF6	50619	broad.mit.edu	37	6	35289056	35289056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:35289056G>A	ENST00000316637.5	+	11	1770	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	DEF6_ENST00000542066.1_Missense_Mutation_p.G334R	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	589						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GACCCGCTGGGGATCCCAGGG	0.642000													38	85					0	0	0.005524	0	0
ALPK3	57538	broad.mit.edu	37	15	85370798	85370798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:85370798C>T	ENST00000258888.5	+	3	1039	c.872C>T	c.(871-873)tCc>tTc	p.S291F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	291	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGTCTGTGTCCGAGGACAGC	0.577000													13	39					0	0	0.003163	0	0
C9orf135	138255	broad.mit.edu	37	9	72501753	72501753	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:72501753G>A	ENST00000377197.3	+	5	536		c.e5-1		C9orf135_ENST00000527647.1_Intron|C9orf135_ENST00000466872.2_Splice_Site	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135							integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATCCCTCTTAGGTGTGCATTG	0.333000													4	14					0	0	0.000248	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152171	65152171	+	Silent	SNP	C	C	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:65152171C>A	ENST00000323544.4	+	4	486	c.358C>A	c.(358-360)Cga>Aga	p.R120R	AC069368.3_ENST00000437723.1_Silent_p.R120R	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	120										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGATTAACCGAGGCAAAAA	0.537000													8	191					0.00307968	0.00613492	0.003080	1	0
CLDN18	51208	broad.mit.edu	37	3	137742526	137742526	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:137742526A>G	ENST00000183605.5	+	2	473	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	CLDN18_ENST00000343735.4_Missense_Mutation_p.M83V	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	83					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCGAGCCCTGATGATCGTAGG	0.532000													6	77					0	0	0.001984	0	0
ZNF708	7562	broad.mit.edu	37	19	21476172	21476172	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:21476172G>A	ENST00000356929.3	-	4	1793	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CTTCACATTTGTAGGGTTTCT	0.368000													11	21					0	0	0.000978	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758593	121758593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:121758593C>T	ENST00000261367.7	+	6	1730	c.302C>T	c.(301-303)tCa>tTa	p.S101L	SNCAIP_ENST00000379536.2_Missense_Mutation_p.S54L|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S101L|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S54L|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S101L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	54					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGTGGCATCTCAACTCTTATT	0.423000													4	14					0	0	0.000602	0	0
TAF1L	138474	broad.mit.edu	37	9	32633240	32633240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:32633240C>T	ENST00000242310.4	-	1	2427	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	780					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCAGAAAATCAGTTTCTGGC	0.453000													41	4					0	0	0.003214	0	0
NONO	4841	broad.mit.edu	37	X	70519838	70519838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:70519838G>A	ENST00000535149.1	+	10	1704	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	NONO_ENST00000276079.8_Missense_Mutation_p.G443E|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.G443E|NONO_ENST00000373841.1_Missense_Mutation_p.G443E	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	443	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACAATGGAAGGAATTGGGGCA	0.488000			T	TFE3	papillary renal cancer								22	31					0	0	0.004656	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123648	50123648	+	Missense_Mutation	SNP	C	C	T	rs150189495		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:50123648C>T	ENST00000378302.2	-	9	1251	c.991G>A	c.(991-993)Gac>Aac	p.D331N	RCBTB1_ENST00000258646.3_Missense_Mutation_p.D331N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D331N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	331					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCAAACACGTCGTCGGTGCAG	0.632000													22	16					0	0	0.001882	0	0
COL11A1	1301	broad.mit.edu	37	1	103380351	103380351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:103380351C>T	ENST00000358392.2	-	51	4186	c.3869G>A	c.(3868-3870)aGa>aAa	p.R1290K	COL11A1_ENST00000353414.4_Missense_Mutation_p.R1239K|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1162K|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1278K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1278	Triple-helical region.				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	p.R1278T(1)|p.R1290T(1)		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)		TTTCTCTCCTCTTTCTCCTTT	0.453000													4	7					0	0	0.000248	0	0
DNAJA3	9093	broad.mit.edu	37	16	4493042	4493042	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4493042G>T	ENST00000262375.6	+	6	885	c.808G>T	c.(808-810)Gtg>Ttg	p.V270L	DNAJA3_ENST00000431375.2_Missense_Mutation_p.V117L|DNAJA3_ENST00000355296.4_Missense_Mutation_p.V270L	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	270					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						AGGCCCTTTTGTGATGCGTTC	0.507000													44	46					1.06522e-23	2.15696e-23	0.003214	1	0
TGM7	116179	broad.mit.edu	37	15	43574238	43574238	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43574238C>T	ENST00000452443.2	-	9	1159	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	385					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTGGACATCCCCTTCCCTGA	0.602000													29	22					0	0	0.001512	0	0
GPR98	84059	broad.mit.edu	37	5	89992899	89992899	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:89992899C>T	ENST00000405460.2	+	34	8187	c.8091C>T	c.(8089-8091)gcC>gcT	p.A2697A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2697					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATTTTGGCCAATGACAATG	0.403000													14	42					0	0	0.004007	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122568	31122568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31122568C>T	ENST00000396268.3	-	4	694	c.506G>A	c.(505-507)gGg>gAg	p.G169E	CCHCR1_ENST00000451521.2_Missense_Mutation_p.G133E|CCHCR1_ENST00000376266.5_Missense_Mutation_p.G80E|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G80E	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	80					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCCCTCCAGCCCCCAGGACCT	0.602000													4	25					0	0	0.000248	0	0
ZNF831	128611	broad.mit.edu	37	20	57768049	57768049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57768049C>T	ENST00000371030.2	+	1	1975	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	659						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGCTTTCCTCTGCAGAA	0.582000													44	44					0	0	0.002222	0	0
RECQL	5965	broad.mit.edu	37	12	21636377	21636377	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:21636377C>T	ENST00000444129.2	-	6	1101	c.633G>A	c.(631-633)agG>agA	p.R211R	RECQL_ENST00000421138.2_Silent_p.R211R	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GAGTAAATCTCCTTGCTTCAT	0.358000								Other identified genes with known or suspected DNA repair function					7	15					0	0	0.003080	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934214	113934214	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:113934214C>T	ENST00000335953.4	+	2	572	c.192C>T	c.(190-192)caC>caT	p.H64H	ZBTB16_ENST00000392996.2_Silent_p.H64H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	64	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTCTTCCACCGCAATAGTC	0.547000													24	37					0	0	0.002780	0	0
KLK15	55554	broad.mit.edu	37	19	51329071	51329071	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51329071T>C	ENST00000326856.4	-	6	878	c.749A>G	c.(748-750)gAa>gGa	p.E250G	KLK15_ENST00000598239.1_Missense_Mutation_p.E251G|KLK15_ENST00000416184.1_Missense_Mutation_p.E166G|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000301421.2_3'UTR	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	251	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CTTCATGGTTTCCCTGATCCA	0.557000													25	54					0	0	0.001512	0	0
RXFP2	122042	broad.mit.edu	37	13	32367062	32367062	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:32367062C>T	ENST00000298386.2	+	16	1694	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RXFP2_ENST00000380314.1_Silent_p.I517I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	541						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CCTCAGTCATCCTCATTTGCA	0.408000													18	34					0	0	0.001216	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40653289	40653289	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40653289C>T	ENST00000343619.4	+	17	2094	c.1971C>T	c.(1969-1971)gtC>gtT	p.V657V	ATP6V0A1_ENST00000264649.6_Silent_p.V664V|ATP6V0A1_ENST00000393829.2_Silent_p.V657V|ATP6V0A1_ENST00000544137.1_Silent_p.V303V|ATP6V0A1_ENST00000585525.1_Silent_p.V614V|ATP6V0A1_ENST00000537728.1_Silent_p.V614V|ATP6V0A1_ENST00000546249.1_Silent_p.V657V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	657					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACCATTGGTCCTTCGCCGTC	0.413000													18	48					0	0	0.006122	0	0
COL6A3	1293	broad.mit.edu	37	2	238277625	238277625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:238277625C>T	ENST00000295550.4	-	10	4933	c.4481G>A	c.(4480-4482)aGa>aAa	p.R1494K	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1294K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R887K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1288K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1288K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1293K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1494	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCTGGGATCTGTAGGTTTT	0.547000													16	37					0	0	0.004007	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363463	21363463	+	RNA	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21363463G>A	ENST00000452284.1	+	0	1130				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						TGGGACACTCGATGTCCAGGT	0.537000													12	61					0	0	0.001855	0	0
CLDN17	26285	broad.mit.edu	37	21	31538579	31538579	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:31538579C>T	ENST00000286808.3	-	1	392	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	119					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTGAAGTTCCCAGAAGGTATG	0.517000													15	2					0	0	0.007413	0	0
FSCN3	29999	broad.mit.edu	37	7	127235366	127235366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:127235366G>A	ENST00000265825.5	+	2	369	c.150G>A	c.(148-150)tgG>tgA	p.W50*	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	50						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGACCTGGGAGATCTTGG	0.557000													23	68					0	0	0.003954	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575477	44575477	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44575477G>A	ENST00000289547.4	-	5	2000	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L	NPC1L1_ENST00000381160.3_Silent_p.L649L|NPC1L1_ENST00000546276.1_Silent_p.L649L|NPC1L1_ENST00000423141.1_Silent_p.L649L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	649	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCCAGGGCCAGAGAGATGTAC	0.567000													29	66					0	0	0.002445	0	0
CLTCL1	8218	broad.mit.edu	37	22	19178917	19178917	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:19178917G>A	ENST00000263200.10	-	27	4294	c.4222C>T	c.(4222-4224)Ctg>Ttg	p.L1408L	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.L1408L|CLTCL1_ENST00000427926.1_Silent_p.L1408L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1408	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGAACTGCAGGGCTCTGTAA	0.532000			T	?	ALCL								33	137					0	0	0.007835	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513652	113513652	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113513652C>T	ENST00000541405.1	-	4	1324	c.801G>A	c.(799-801)ctG>ctA	p.L267L	CKAP2L_ENST00000302450.6_Silent_p.L432L			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	432						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTGTCTTGTTCAGAAAATGGT	0.413000													54	137					0	0	0.003610	0	0
STRA6	64220	broad.mit.edu	37	15	74473122	74473122	+	Splice_Site	SNP	C	C	T	rs144114337		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74473122C>T	ENST00000323940.5	-	18	2086		c.e18+1		STRA6_ENST00000574278.1_Splice_Site|STRA6_ENST00000574439.1_Splice_Site|STRA6_ENST00000563965.1_Splice_Site|STRA6_ENST00000535552.1_Splice_Site|STRA6_ENST00000449139.2_Splice_Site|STRA6_ENST00000423167.2_Splice_Site|STRA6_ENST00000416286.3_Splice_Site|STRA6_ENST00000395105.4_Splice_Site	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6						adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGAGGGCGCACCTTCGTCTTC	0.612000													39	74					0	0	0.006999	0	0
BTLA	151888	broad.mit.edu	37	3	112190128	112190128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:112190128G>A	ENST00000334529.5	-	3	680	c.478C>T	c.(478-480)Cct>Tct	p.P160S	BTLA_ENST00000383680.4_Intron	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	160					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CCCCCCAAAGGAAGTAAACGA	0.498000													12	32					0	0	0.001368	0	0
LINC00477	144360	broad.mit.edu	37	12	24736861	24736861	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:24736861C>T	ENST00000483544.1	-	0	241					NR_029451.2																						GAATACATCCCCATAGGAGAT	0.527000													15	25					0	0	0.002450	0	0
DOT1L	84444	broad.mit.edu	37	19	2217040	2217040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2217040C>T	ENST00000398665.3	+	21	2531	c.2495C>T	c.(2494-2496)cCc>cTc	p.P832L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	832						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GACCCGCGGCCCCTGTCCCCT	0.672000													12	56					0	0	0.001368	0	0
ZNF41	7592	broad.mit.edu	37	X	47308118	47308118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47308118C>T	ENST00000377065.4	-	5	1690	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	ZNF41_ENST00000397050.2_Missense_Mutation_p.G361R|ZNF41_ENST00000313116.7_Missense_Mutation_p.G351R	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GGTTTCTGCCCGGTATGAATT	0.383000													25	25					0	0	0.003954	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486364	37486364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:37486364C>T	ENST00000374660.1	+	35	2960	c.2861C>T	c.(2860-2862)cCa>cTa	p.P954L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P835L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P835L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1003						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGTCTGTTCCAAATAAAGCC	0.308000													50	8					0	0	0.003610	0	0
SDK1	221935	broad.mit.edu	37	7	4026948	4026948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:4026948G>A	ENST00000404826.2	+	14	2264	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	SDK1_ENST00000389531.3_Missense_Mutation_p.E709K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	709	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGCTCTCTGAAAACAGTAA	0.458000													38	144					0	0	0.006230	0	0
C12orf45	121053	broad.mit.edu	37	12	105388387	105388387	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:105388387C>T	ENST00000552951.1	+	4	514	c.471C>T	c.(469-471)acC>acT	p.T157T	C12orf45_ENST00000548583.1_3'UTR|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	157										large_intestine(1)|lung(2)	3						CTGAAGTCACCATAGATAACA	0.368000													18	35					0	0	0.006122	0	0
NF1	4763	broad.mit.edu	37	17	29556425	29556425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:29556425C>T	ENST00000358273.4	+	21	3175	c.2792C>T	c.(2791-2793)cCa>cTa	p.P931L	NF1_ENST00000356175.3_Missense_Mutation_p.P931L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	931					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTCTGTATCCAATGCTATTT	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	11					0	0	0.003163	0	0
TENM2	57451	broad.mit.edu	37	5	167654908	167654908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:167654908C>T	ENST00000519204.1	+	24	5048	c.4930C>T	c.(4930-4932)Cgg>Tgg	p.R1644W	TENM2_ENST00000520394.1_Missense_Mutation_p.R1526W|TENM2_ENST00000403607.2_Missense_Mutation_p.R1589W|TENM2_ENST00000545108.1_Missense_Mutation_p.R1764W|TENM2_ENST00000518659.1_Missense_Mutation_p.R1765W					teneurin transmembrane protein 2																		AGATCAAGTTCGGAACAGCTA	0.453000													3	2					0	0	0.004672	0	0
MTBP	27085	broad.mit.edu	37	8	121502706	121502706	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:121502706T>A	ENST00000305949.1	+	13	1388	c.1343T>A	c.(1342-1344)tTt>tAt	p.F448Y		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	448					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCTCAGGTTTTCCTTTTGAC	0.353000													10	11					0	0	0.000978	0	0
GP6	51206	broad.mit.edu	37	19	55543684	55543684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55543684C>T	ENST00000310373.3	-	3	175	c.148G>A	c.(148-150)Gga>Aga	p.G50R	CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.G50R|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.G50R|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	50	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCCGGAGGTCCCTGGCACCGG	0.657000													13	32					0	0	0.001855	0	0
IGHM	3507	broad.mit.edu	37	14	106322074	106322074	+	RNA	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106322074C>T	ENST00000390559.2	-	0	249																											ACCACGTGTTCGTCTGTGCCC	0.627000													46	144					0	0	0.003610	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517821	113517821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:113517821G>A	ENST00000284601.3	-	4	3394	c.3326C>T	c.(3325-3327)tCc>tTc	p.S1109F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1109					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCTTCCCAGGATAGCCAGGA	0.348000													5	20					0	0	0.001168	0	0
SYNE1	23345	broad.mit.edu	37	6	152771871	152771871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:152771871C>T	ENST00000367255.5	-	27	3885	c.3284G>A	c.(3283-3285)aGg>aAg	p.R1095K	SYNE1_ENST00000367248.3_Missense_Mutation_p.R1085K|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1095K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1095K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1102K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1102K|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1095K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1161K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1095					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)		AGGTGTGTCCCTTACTGGGTC	0.507000										HNSCC(10;0.0054)			119	9					0	0	0.003610	0	0
CXorf36	79742	broad.mit.edu	37	X	45013353	45013353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:45013353C>T	ENST00000398000.2	-	4	837	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	255						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TCATAGAATTCCTGCAGCGGT	0.577000													33	76					0	0	0.002836	0	0
GHRHR	2692	broad.mit.edu	37	7	31008745	31008745	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:31008745C>T	ENST00000326139.2	+	3	274	c.228C>T	c.(226-228)ctC>ctT	p.L76L		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	76					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGGTCACCCTCCCCTGCCCGG	0.622000													6	5					0	0	0.001984	0	0
PTPRT	11122	broad.mit.edu	37	20	40757460	40757460	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:40757460G>A	ENST00000373198.3	-	20	3082	c.2847C>T	c.(2845-2847)tcC>tcT	p.S949S	PTPRT_ENST00000356100.2_Silent_p.S936S|PTPRT_ENST00000373190.1_Silent_p.S926S|PTPRT_ENST00000373193.3_Silent_p.S930S|PTPRT_ENST00000373201.1_Silent_p.S917S|PTPRT_ENST00000373184.1_Silent_p.S917S|PTPRT_ENST00000373187.1_Silent_p.S927S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	927	Tyrosine-protein phosphatase 1.				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)				GCCTCACCCGGGAATGGTCGT	0.517000													10	11					0	0	0.002450	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187640	6187640	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6187640C>T	ENST00000588304.1	+	13	2007	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	ACSBG2_ENST00000588485.1_Silent_p.L384L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Silent_p.L571L|ACSBG2_ENST00000591403.1_Silent_p.L571L|ACSBG2_ENST00000252669.5_Silent_p.L571L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	571					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGAGAACCTCTGGACAAGCT	0.587000													9	25					0	0	0.004482	0	0
UGCG	7357	broad.mit.edu	37	9	114695137	114695137	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:114695137T>C	ENST00000374279.3	+	9	1495	c.1045T>C	c.(1045-1047)Tat>Cat	p.Y349H		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	349					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	AAAACTTGATTATGCAGTCGC	0.358000													27	57					0	0	0.004289	0	0
RBM45	129831	broad.mit.edu	37	2	178986073	178986073	+	Silent	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:178986073T>C	ENST00000286070.5	+	5	932	c.840T>C	c.(838-840)ccT>ccC	p.P280P		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	282					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AACGAGATCCTTATTCAAATT	0.328000													23	23					0	0	0.003954	0	0
OR51B6	390058	broad.mit.edu	37	11	5373327	5373327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5373327C>T	ENST00000380219.1	+	1	590	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTCTCTATCCAGTTGTAGTT	0.433000													37	14					0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9047882	9047882	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9047882A>G	ENST00000397910.4	-	5	33952	c.33749T>C	c.(33748-33750)gTt>gCt	p.V11250A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11252	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAAGTTGGAACAACAGAACT	0.483000													6	16					0	0	0.001168	0	0
MUC3A	4584	broad.mit.edu	37	7	100549633	100549633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100549633G>A	ENST00000379458.4	+	2	214	c.214G>A	c.(214-216)Gaa>Aaa	p.72_72insK	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGGCCACAGGGAAAATGCACC	0.577000													29	106					0	0	0.005443	0	0
ZNF500	26048	broad.mit.edu	37	16	4815779	4815779	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4815779G>A	ENST00000219478.6	-	2	500	c.201C>T	c.(199-201)gcC>gcT	p.A67A	ZNF500_ENST00000545009.1_Silent_p.A67A			O60304	ZN500_HUMAN	zinc finger protein 500	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCGGCTCAGGGCCTCCCGGG	0.682000													13	17					0	0	0.001368	0	0
DSCAM	1826	broad.mit.edu	37	21	41561075	41561075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:41561075G>A	ENST00000400454.1	-	12	2924	c.2447C>T	c.(2446-2448)cCc>cTc	p.P816L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	816	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACTATAATGGGCTTCTCACC	0.512000													32	121					0	0	0.003271	0	0
AKAP17A	8227	broad.mit.edu	37	X	1713000	1713000	+	Silent	SNP	C	C	T	rs138420977		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:1713000C>T	ENST00000313871.3	+	2	841	c.645C>T	c.(643-645)ttC>ttT	p.F215F	AKAP17A_ENST00000381261.3_Silent_p.F215F	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	215	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACTTGAACTTCGAGGCCTATG	0.612000													52	127					0	0	0.003610	0	0
MBL2	4153	broad.mit.edu	37	10	54528094	54528094	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:54528094G>A	ENST00000373968.3	-	4	614	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	184	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGATGCCCAGGAAGGCTTCC	0.517000													39	43					0	0	0.001951	0	0
CPS1	1373	broad.mit.edu	37	2	211438116	211438116	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:211438116A>T	ENST00000233072.5	+	2	417	c.221A>T	c.(220-222)aAt>aTt	p.N74I	CPS1_ENST00000430249.2_Missense_Mutation_p.N80I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	74	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTGGTTTTTAATACTGGCCTG	0.433000													22	30					0	0	0.002780	0	0
GALNT15	117248	broad.mit.edu	37	3	16254124	16254124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:16254124G>A	ENST00000339732.5	+	6	1749	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	GALNT15_ENST00000437509.1_Missense_Mutation_p.G416R	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CTCTCGGGTAGGACACATCTA	0.547000													18	31					0	0	0.007413	0	0
LTN1	26046	broad.mit.edu	37	21	30318520	30318520	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:30318520T>C	ENST00000361371.4	-	20	3727	c.3577A>G	c.(3577-3579)Ata>Gta	p.I1193V	LTN1_ENST00000389194.2_Missense_Mutation_p.I1239V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1193							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAGGATATTATGATTTTTAAT	0.308000													28	3					0	0	0.007291	0	0
BIN2	51411	broad.mit.edu	37	12	51685491	51685491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:51685491G>A	ENST00000267012.4	-	10	1460	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	BIN2_ENST00000604560.1_Missense_Mutation_p.P440S|BIN2_ENST00000544402.1_Missense_Mutation_p.P441S|BIN2_ENST00000452142.2_Missense_Mutation_p.P435S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	467	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCTGGATTAGGAGAGACCTCT	0.542000													11	28					0	0	0.000978	0	0
TRAV34	28648	broad.mit.edu	37	14	22675939	22675939	+	RNA	SNP	A	A	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22675939A>G	ENST00000390461.2	+	0	263																											ATAACTGCCAAGTTGGATGAG	0.458000													4	7					0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11603117	11603117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11603117G>A	ENST00000262442.3	+	23	5010	c.4942G>A	c.(4942-4944)Gaa>Aaa	p.E1648K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1648K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1648	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCAGTGGGGAACCAACCAA	0.507000													12	15					0	0	0.001855	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310380	57310380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57310380G>A	ENST00000457912.1	+	2	319	c.319G>A	c.(319-321)Gat>Aat	p.D107N	SMTNL1_ENST00000399154.2_Missense_Mutation_p.D89N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D89N			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	89										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGGGAAAGAGGATGCTGAGGC	0.522000													4	10					0	0	0.000602	0	0
BICD2	23299	broad.mit.edu	37	9	95483034	95483034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95483034C>T	ENST00000356884.6	-	4	677	c.610G>A	c.(610-612)Gag>Aag	p.E204K	BICD2_ENST00000375512.3_Missense_Mutation_p.E204K	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	204					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCTCAAACTCCACCTGGGAA	0.537000													20	34					0	0	0.001882	0	0
PCDH20	64881	broad.mit.edu	37	13	61985483	61985483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:61985483C>T	ENST00000409186.1	-	5	4854	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E917K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	890					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGATGCTTTTCCCCTTTCCTT	0.418000													17	45					0	0	0.007413	0	0
BAI2	576	broad.mit.edu	37	1	32193866	32193866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32193866G>A	ENST00000373658.3	-	31	4773	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W	BAI2_ENST00000527361.1_Missense_Mutation_p.R1444W|BAI2_ENST00000373655.2_Missense_Mutation_p.R1477W|BAI2_ENST00000398538.1_Missense_Mutation_p.R1466W|BAI2_ENST00000398556.3_Missense_Mutation_p.R1393W|BAI2_ENST00000398547.1_Missense_Mutation_p.R1411W|BAI2_ENST00000398542.1_Missense_Mutation_p.R1378W|BAI2_ENST00000257070.4_Missense_Mutation_p.R1444W|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.R1087W	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1478					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGCCGTTTCCGGGTGTGCATC	0.637000													16	15					0	0	0.001216	0	0
BPI	671	broad.mit.edu	37	20	36962855	36962855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:36962855G>A	ENST00000262865.4	+	13	1397	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	436					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AGGATATCATGAACTACATTG	0.507000													56	153					0	0	0.003610	0	0
UBN2	254048	broad.mit.edu	37	7	138968788	138968788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138968788C>T	ENST00000288561.8	+	15	3137	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V	UBN2_ENST00000473989.2_Missense_Mutation_p.A1046V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1046	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCCAAGCCTGCCACATCTCCT	0.512000													16	13					0	0	0.004990	0	0
FAM73A	374986	broad.mit.edu	37	1	78324727	78324727	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:78324727C>T	ENST00000370791.3	+	9	1133	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	FAM73A_ENST00000443751.2_Silent_p.Y329Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	367						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAAAATTTACTCCAGAGTAC	0.378000													11	21					0	0	0.001855	0	0
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125316096C>T	ENST00000373688.2	+	1	706	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	216					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						AGCTGATGATCATCACCATGG	0.502000													11	21					0	0	0.000673	0	0
PRG4	10216	broad.mit.edu	37	1	186276151	186276151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:186276151G>A	ENST00000445192.2	+	7	1345	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PRG4_ENST00000367485.4_Missense_Mutation_p.E341K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E391K|PRG4_ENST00000367483.4_Missense_Mutation_p.E393K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	434	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACTCCCAAGGAGCCTGCACC	0.657000													14	47					0	0	0.007413	0	0
SCYL1	57410	broad.mit.edu	37	11	65298129	65298129	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:65298129C>T	ENST00000524944.1	+	7	912	c.879C>T	c.(877-879)ttC>ttT	p.F293F	SCYL1_ENST00000533862.1_Silent_p.F293F|SCYL1_ENST00000525364.1_Silent_p.F293F|SCYL1_ENST00000527630.1_Silent_p.F293F|SCYL1_ENST00000279270.6_Silent_p.F293F|SCYL1_ENST00000420247.2_Silent_p.F293F|SCYL1_ENST00000527009.1_Silent_p.F150F|SCYL1_ENST00000270176.5_Silent_p.F293F			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	293	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AGCAAAAATTCTTCCAGGAGC	0.597000													22	49					0	0	0.002780	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:214878736C>T	ENST00000331683.5	+	13	1557	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P394S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000													6	12					0	0	0.001168	0	0
PRKAR1B	5575	broad.mit.edu	37	7	750993	750993	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:750993G>A	ENST00000406797.1	-	2	324	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000403562.1_Silent_p.L50L|PRKAR1B_ENST00000537384.1_Silent_p.L50L|PRKAR1B_ENST00000544935.1_Silent_p.L50L|PRKAR1B_ENST00000360274.4_Silent_p.L50L	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	50	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGTGCTCCCGGAGGAACTTCA	0.642000													36	112					0	0	0.005524	0	0
NRDE2	55051	broad.mit.edu	37	14	90784408	90784408	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:90784408G>A	ENST00000354366.3	-	2	346	c.114C>T	c.(112-114)tcC>tcT	p.S38S	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GTTGGCTCAGGGACGTTATGG	0.423000													48	153					0	0	0.003610	0	0
PDE6C	5146	broad.mit.edu	37	10	95385364	95385364	+	Silent	SNP	A	A	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:95385364A>T	ENST00000371447.3	+	5	1035	c.897A>T	c.(895-897)ggA>ggT	p.G299G		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	299	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCAAGCTTGGAGAAGTAGAGC	0.408000													17	1					0	0	0.006122	0	0
KSR1	8844	broad.mit.edu	37	17	25934966	25934966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:25934966C>T	ENST00000398988.3	+	17	2121	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	KSR1_ENST00000319524.6_Missense_Mutation_p.S696L|KSR1_ENST00000268763.6_Missense_Mutation_p.S559L|KSR1_ENST00000509603.2_Missense_Mutation_p.S674L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	694					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACGTTGCACTCGTTTGTGAGG	0.627000													5	7					0	0	0.001168	0	0
CIT	11113	broad.mit.edu	37	12	120139553	120139553	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:120139553G>A	ENST00000392521.2	-	43	5473	c.5418C>T	c.(5416-5418)ttC>ttT	p.F1806F	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.F1764F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1764	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTATCCAGGAATTCTGTAA	0.577000													13	29					0	0	0.001855	0	0
ZNF812	729648	broad.mit.edu	37	19	9801789	9801789	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9801789G>A	ENST00000457674.2	-	5	908	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	130	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCCAATAGAGGCTTCCTTGT	0.408000													7	41					0	0	0.003080	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798468	69798468	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:69798468T>A	ENST00000251566.4	-	3	904	c.874A>T	c.(874-876)Aat>Tat	p.N292Y	UGT2A3_ENST00000420231.2_Missense_Mutation_p.N3Y	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	292						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGACAAAATTTTCCATTTCC	0.318000													9	4					0	0	0.006214	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432834	140432834	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140432834G>A	ENST00000306549.3	+	1	1856	c.1779G>A	c.(1777-1779)gtG>gtA	p.V593V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		593	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCTGTGGATGGTGACT	0.478000													21	33					0	0	0.001216	0	0
GIF	2694	broad.mit.edu	37	11	59612876	59612876	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:59612876C>T	ENST00000257248.2	-	1	98	c.51G>A	c.(49-51)ggG>ggA	p.G17G	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	17					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGGTACTAGTCCCAGCTGTAG	0.542000													28	21					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179616667	179616667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179616667C>T	ENST00000360870.5	-	46	10682	c.10460G>A	c.(10459-10461)aGa>aAa	p.R3487K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3489							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)			ACTTGCATATCTTTTAGCAGC	0.388000													7	9					0	0	0.003080	0	0
TNNC1	7134	broad.mit.edu	37	3	52485483	52485483	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52485483C>T	ENST00000232975.3	-	5	432	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	126	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCGTGATGGTCTCGCCTGTAG	0.582000													26	65					0	0	0.007291	0	0
SCN7A	6332	broad.mit.edu	37	2	167328849	167328849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:167328849C>T	ENST00000409855.1	-	5	676	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	184					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACGCTGAAATCGAGCCAGTTC	0.353000													7	6					0	0	0.003080	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471643	39471643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39471643C>T	ENST00000334202.3	-	1	304	c.260G>A	c.(259-261)gGc>gAc	p.G87D		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	87						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCACCCGGAGCCgcagcaact	0.622000													10	27					0	0	0.000978	0	0
GPC3	2719	broad.mit.edu	37	X	132730486	132730486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:132730486G>A	ENST00000370818.3	-	7	2000	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.Q465*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.Q542*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	519						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AAGCGGAGCTGATTCTTCACT	0.423000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				18	35					0	0	0.002780	0	0
RGL4	266747	broad.mit.edu	37	22	24036014	24036014	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:24036014G>A	ENST00000290691.5	+	4	1935	c.765G>A	c.(763-765)ggG>ggA	p.G255G	RGL4_ENST00000401461.1_Silent_p.G119G	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	255	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCTGAAGGGGAATGAGCACA	0.587000													45	62					0	0	0.003610	0	0
THOP1	7064	broad.mit.edu	37	19	2799757	2799757	+	Missense_Mutation	SNP	C	C	T	rs143179443	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2799757C>T	ENST00000307741.6	+	5	760	c.557C>T	c.(556-558)aCg>aTg	p.T186M	THOP1_ENST00000586677.1_Missense_Mutation_p.T65M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	186					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		AACGAGGACACGACCTTCCTG	0.612000													66	71					0	0	0.003610	0	0
DIDO1	11083	broad.mit.edu	37	20	61526218	61526218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:61526218G>A	ENST00000266070.4	-	10	2705	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P794S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P794S|DIDO1_ENST00000395340.1_Missense_Mutation_p.P794S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	794					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTGCCTGGGGGCCGTCTTC	0.488000													84	75					0	0	0.003610	0	0
CSNK2B	1460	broad.mit.edu	37	6	31636404	31636404	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31636404C>T	ENST00000375880.2	+	4	382	c.264C>T	c.(262-264)atC>atT	p.I88I	CSNK2B_ENST00000375865.2_Silent_p.I88I|CSNK2B_ENST00000375882.2_Silent_p.I88I|CSNK2B_ENST00000375885.4_Silent_p.I107I|CSNK2B_ENST00000375866.2_Silent_p.I88I																							CCCGCTACATCCTTACCAACC	0.537000													108	185					0	0	0.003610	0	0
NLRP5	126206	broad.mit.edu	37	19	56539477	56539477	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56539477C>T	ENST00000390649.3	+	7	1878	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	626						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGGCAGGCTTCCATATCCACT	0.552000													46	22					0	0	0.003610	0	0
UNC79	57578	broad.mit.edu	37	14	94155165	94155165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94155165C>T	ENST00000553484.1	+	46	7401	c.7247C>T	c.(7246-7248)cCc>cTc	p.P2416L	UNC79_ENST00000256339.4_Missense_Mutation_p.P2217L|UNC79_ENST00000555664.1_Missense_Mutation_p.P2355L|UNC79_ENST00000393151.2_Missense_Mutation_p.P2394L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2394						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						CTTTATCATCCCCCCTCTGCA	0.537000													8	42					0	0	0.004482	0	0
MRPS34	65993	broad.mit.edu	37	16	1822335	1822335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1822335C>T	ENST00000177742.3	-	3	595	c.565G>A	c.(565-567)Gga>Aga	p.G189R	MRPS34_ENST00000397375.2_Missense_Mutation_p.G182R			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	182						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						CTTGTGTCTCCATTTTTCTGT	0.597000													16	64					0	0	0.004007	0	0
GPR50	9248	broad.mit.edu	37	X	150349148	150349148	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:150349148G>T	ENST00000218316.3	+	2	1162	c.1093G>T	c.(1093-1095)Gtc>Ttc	p.V365F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	365	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGATGAATGTCCGGAATGT	0.632000													76	58					1.04643e-32	2.12412e-32	0.003610	1	0
CCDC129	223075	broad.mit.edu	37	7	31692350	31692350	+	Silent	SNP	G	G	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:31692350G>A	ENST00000319386.3	+	14	3591	c.2598G>A	c.(2596-2598)agG>agA	p.R866R	CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000409210.1_Silent_p.R922R|CCDC129_ENST00000407970.3_Silent_p.R1014R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1014										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAGCACCAGGATGTCTCCTT	0.532000													4	11					0	0	0.000602	0	0
ATP8A1	10396	broad.mit.edu	37	4	42580307	42580307	+	Silent	SNP	C	C	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:42580307C>T	ENST00000381668.5	-	12	1329	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	ATP8A1_ENST00000264449.10_Silent_p.V366V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	366					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GGGTAAATTTCACAACTTCTA	0.333000													16	17					0	0	0.004990	0	0
CDCP2	200008	broad.mit.edu	37	1	54606824	54606825	+	Frame_Shift_Ins	INS	-	-	G	rs142681935		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:54606824_54606825insG	ENST00000371330.1	-	3	1556_1557	c.709_710insC	c.(709-711)caafs	p.Q237fs		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	237	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTCGGACTTGAAGACCACCTGC	0.649													21	37	---	---	---	---					
NOTCH2NL	388677	broad.mit.edu	37	1	145281552	145281566	+	In_Frame_Del	DEL	ACCTGCCTGGTTCCT	ACCTGCCTGGTTCCT	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:145281552_145281566delACCTGCCTGGTTCCT	ENST00000369340.3	+	5	926_940	c.482_496delACCTGCCTGGTTCCT	c.(481-498)aac>a	p.NLPGSY161del	NOTCH2NL_ENST00000344859.3_In_Frame_Del_p.NLPGSY161del|RP11-458D21.5_ENST00000468030.1_In_Frame_Del_p.NLPGSY161del|NOTCH2NL_ENST00000362074.6_In_Frame_Del_p.NLPGSY161del			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	161	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.S165F(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCTGCCTCAACCTGCCTGGTTCCTACCAGTGCCA	0.572													24	467	---	---	---	---					
CRTC2	200186	broad.mit.edu	37	1	153924881	153924885	+	Frame_Shift_Del	DEL	AGGGA	AGGGA	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153924881_153924885delAGGGA	ENST00000368633.1	-	9	867_871	c.740_744delTCCCT	c.(739-744)gfs	p.VP247fs	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	247					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTTAATTCCAGGGACTTCACAGGA	0.537													36	93	---	---	---	---					
CRIM1	51232	broad.mit.edu	37	2	36706721	36706721	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:36706721delA	ENST00000280527.2	+	7	1623	c.1256delA	c.(1255-1257)gcfs	p.D420fs		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	420	VWFC 2.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGGCGGGAAGACGACTGCACA	0.552													49	60	---	---	---	---					
AMIGO3	386724	broad.mit.edu	37	3	49755643	49755663	+	In_Frame_Del	DEL	CAGCGGCGGCAGCGGCAGGCA	CAGCGGCGGCAGCGGCAGGCA	-	rs71688394	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49755643_49755663delCAGCGGCGGCAGCGGCAGGCA	ENST00000535833.1	-	10	4686_4706	c.1236_1256delTGCCTGCCGCTGCCGCCGCTG	c.(1234-1257)cgg>cg	p.RACRCRRW412del	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_In_Frame_Del_p.RACRCRRW412del|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	412					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)		TGTTTGGGGCcagcggcggcagcggcaggcacggcggcagc	0.674													30	84	---	---	---	---					
TMEM248P1	645841	broad.mit.edu	37	4	126644445	126644446	+	RNA	DEL	TC	TC	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:126644445_126644446delTC	ENST00000507203.1	+	0	198																											AAAGCTGTCTTCTCAGGACAAT	0.441													2	4	---	---	---	---					
KCTD7	154881	broad.mit.edu	37	7	66270287	66270288	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:66270287_66270288insAA	ENST00000380828.2	+	10	1255_1256	c.1101_1102insAA	c.(1099-1104)aaccccfs	p.NP367fs	RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Frame_Shift_Ins_p.NP327fs|RABGEF1_ENST00000437078.2_Frame_Shift_Ins_p.NP341fs|RABGEF1_ENST00000439720.2_Frame_Shift_Ins_p.NP340fs|RABGEF1_ENST00000450873.2_Frame_Shift_Ins_p.NP327fs|KCTD7_ENST00000510829.2_Frame_Shift_Ins_p.NP327fs|RABGEF1_ENST00000284957.5_Frame_Shift_Ins_p.NP327fs			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGAAGGGCAACCCCCCACGCCT	0.510													7	78	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155559282	155559282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:155559282delA	ENST00000401878.3	+	16	3506	c.3308delA	c.(3307-3309)ggfs	p.E1103fs	RBM33_ENST00000341148.3_Frame_Shift_Del_p.E39fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1103	RRM.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGTCTGTGGAGGGGCTGTCC	0.667													7	31	---	---	---	---					
MTPAP	55149	broad.mit.edu	37	10	30658030	30658031	+	Translation_Start_Site	INS	-	-	TCATGCTTC	rs35032735		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:30658030_30658031insTCATGCTTC	ENST00000488290.1	-	0	382_383							Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCGATGCCTGTCATGCTTCTT	0.594													44	37	---	---	---	---					
ARID5B	84159	broad.mit.edu	37	10	63845528	63845528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:63845528delC	ENST00000279873.7	+	9	1677	c.1267delC	c.(1267-1269)ggfs	p.R423fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.R180fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	423					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AATCAAACCTCGGAAACAGGA	0.363													64	12	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													7	7	---	---	---	---					
MIR621	693206	broad.mit.edu	37	13	41384959	41384959	+	RNA	DEL	T	T	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:41384959delT	ENST00000384919.1	+	0	58					NR_030352.1																						TGAAGACCCATGTGGCTAGCA	0.552													13	71	---	---	---	---					
DMXL2	23312	broad.mit.edu	37	15	51773239	51773239	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51773239delT	ENST00000251076.5	-	24	6351	c.6064delA	c.(6064-6066)cafs	p.T2022fs	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Frame_Shift_Del_p.T1386fs|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.T2022fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2022						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTGAGGTGTTAATAACATG	0.388													112	122	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699358	17699359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17699358_17699359insC	ENST00000353383.1	+	3	3565_3566	c.3096_3097insC	c.(3094-3099)ggccccfs	p.GP1032fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.GP1032fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1032						cytoplasm|nucleus	zinc ion binding	p.Q1035fs*31(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGCACAGGGCCCCCCCAGGG	0.698													6	4	---	---	---	---					
ZBTB7A	51341	broad.mit.edu	37	19	4054599	4054607	+	In_Frame_Del	DEL	GCGGCCACG	GCGGCCACG	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4054599_4054607delGCGGCCACG	ENST00000322357.4	-	2	902_910	c.624_632delCGTGGCCGC	c.(622-633)gcg>gc	p.AVAA208del	ZBTB7A_ENST00000601588.1_In_Frame_Del_p.AVAA208del	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	208	Ala-rich.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTCGCCCGCGGCCACGGCGGCCACAG	0.756													8	16	---	---	---	---